Variant report

Variant	esv1838610
Chromosome Location	chr3:133969361-133973731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:133969629-133969983	HepG2	liver:	n/a	n/a
2	BACH1	chr3:133969712-133970099	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr3:133969724-133969911	K562	blood:	n/a	n/a
4	BHLHE40	chr3:133969581-133969850	GM12878	blood:	n/a	chr3:133969655-133969671 chr3:133969583-133969599
5	BRCA1	chr3:133969713-133970025	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr3:133968957-133970062	K562	blood:	n/a	chr3:133969152-133969161
7	CEBPB	chr3:133969792-133970177	IMR90	lung:	n/a	n/a
8	CEBPB	chr3:133970544-133970756	K562	blood:	n/a	n/a
9	CEBPB	chr3:133969823-133970097	A549	lung:	n/a	n/a
10	CEBPB	chr3:133969767-133970076	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr3:133969777-133970150	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr3:133969603-133970155	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr3:133969772-133970167	MCF-7	breast:	n/a	n/a
14	CEBPB	chr3:133970524-133970877	K562	blood:	n/a	n/a
15	CEBPB	chr3:133969880-133970152	K562	blood:	n/a	n/a
16	CEBPB	chr3:133970621-133971116	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr3:133970534-133970850	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:133970531-133971120	HepG2	liver:	n/a	n/a
19	CEBPB	chr3:133969818-133970104	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:133971674-133971952	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr3:133970585-133970828	A549	lung:	n/a	n/a
22	CEBPD	chr3:133969450-133969892	HepG2	liver:	n/a	n/a
23	CEBPD	chr3:133969102-133969411	HepG2	liver:	n/a	n/a
24	CHD1	chr3:133969952-133970164	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr3:133971099-133971112	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr3:133970894-133971133	HepG2	liver:	n/a	n/a
27	CHD2	chr3:133969607-133969963	GM12878	blood:	n/a	n/a
28	CHD2	chr3:133968678-133969977	Hela-S3	cervix:	n/a	chr3:133969153-133969163 chr3:133969235-133969245
29	CHD2	chr3:133969808-133969940	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr3:133969729-133969945	HepG2	liver:	n/a	n/a
31	CREB1	chr3:133969510-133969884	A549	lung:	n/a	n/a
32	CREB1	chr3:133969545-133969819	K562	blood:	n/a	n/a
33	CTCF	chr3:133969632-133969765	GM12878	blood:	n/a	n/a
34	CTCF	chr3:133969720-133969870	SAEC	small airway:	n/a	n/a
35	CTCF	chr3:133969820-133969970	GM12869	blood:	n/a	n/a
36	CTCF	chr3:133969977-133969984	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr3:133969617-133969748	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr3:133969620-133969770	AG04449	skin:	n/a	n/a
39	CTCF	chr3:133969840-133969990	AG04449	skin:	n/a	n/a
40	E2F1	chr3:133969573-133970073	Hela-S3	cervix:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969587-133969597 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
41	E2F4	chr3:133969690-133969904	GM12878	blood:	n/a	chr3:133969721-133969730
42	E2F4	chr3:133969613-133970090	MCF10A-Er-Src	breast:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
43	E2F6	chr3:133969614-133970016	K562	blood:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
44	E2F6	chr3:133969669-133969838	K562	blood:	n/a	chr3:133969721-133969730
45	E2F6	chr3:133969607-133970228	A549	lung:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
46	E2F6	chr3:133969595-133970073	H1-hESC	embryonic stem cell:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
47	E2F6	chr3:133969632-133970031	K562	blood:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
48	E2F6	chr3:133969560-133970229	H1-hESC	embryonic stem cell:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969587-133969597 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
49	EBF1	chr3:133972646-133973060	GM12878	blood:	n/a	chr3:133972843-133972854
50	EBF1	chr3:133969610-133969904	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133969921-133969971	HEK293	kidney:	embryo
2	chr3:133969921-133969971	HEK293	kidney:	embryo
3	chr3:133969914-133969964	LNCaP	prostate:	n/a
4	chr3:133969591-133969641	NT2-D1	testis:	n/a
5	chr3:133969921-133969971	A549	lung:	n/a
6	chr3:133973256-133973306	HUVEC	blood vessel:	n/a
7	chr3:133970158-133970208	ECC-1	luminal epithelium:	n/a
8	chr3:133969591-133969641	HCT-116	colon:	n/a
9	chr3:133969591-133969641	SK-N-SH	brain:	n/a
10	chr3:133970158-133970208	HCPEpiC	choroid plexus:	n/a
11	chr3:133970158-133970208	SKMC	muscle:	n/a
12	chr3:133970158-133970208	PrEC	prostate:	n/a
13	chr3:133969914-133969964	HL-60	blood:	n/a
14	chr3:133969914-133969964	Hepatocyte	liver:	n/a
15	chr3:133969914-133969964	AG04450	lung:	fetal
16	chr3:133969914-133969964	ovcar-3	ovarian:	n/a
17	chr3:133969921-133969971	AG04449	skin:	fetal
18	chr3:133969914-133969964	A549	lung:	n/a
19	chr3:133969591-133969641	HRPEpiC	eye:	n/a
20	chr3:133970158-133970208	Hepatocyte	liver:	n/a
21	chr3:133973256-133973306	T-47D	breast:	n/a
22	chr3:133969591-133969641	IMR90	lung:	fetal
23	chr3:133970158-133970208	CMK	blood:	n/a
24	chr3:133969921-133969971	SK-N-SH	brain:	n/a
25	chr3:133970158-133970208	Caco-2	colon:	n/a
26	chr3:133969921-133969971	BJ	skin:	n/a
27	chr3:133973256-133973306	AG04450	lung:	fetal
28	chr3:133970158-133970208	HNPCEpiC	eye:	n/a
29	chr3:133969591-133969641	K562	blood:	n/a
30	chr3:133973256-133973306	HPAEpiC	pulmonary alveolar:	n/a
31	chr3:133970158-133970208	T-47D	breast:	n/a
32	chr3:133970158-133970208	SK-N-SH	brain:	n/a
33	chr3:133973256-133973306	NB4	blood:	n/a
34	chr3:133970158-133970208	MCF10A-Er-Src	breast:	n/a
35	chr3:133973256-133973306	PANC-1	pancreas:	n/a
36	chr3:133969914-133969964	MCF-7	breast:	n/a
37	chr3:133970158-133970208	RPTEC	kidney:	n/a
38	chr3:133969591-133969641	SK-N-MC	brain:	n/a
39	chr3:133973256-133973306	GM06990	blood:	n/a
40	chr3:133973256-133973306	HMEC	breast:	n/a
41	chr3:133969914-133969964	SKMC	muscle:	n/a
42	chr3:133973256-133973306	HCF	heart:	n/a
43	chr3:133970158-133970208	SK-N-MC	brain:	n/a
44	chr3:133969591-133969641	GM12892	blood:	n/a
45	chr3:133969921-133969971	NHBE	bronchial:	n/a
46	chr3:133969914-133969964	IMR90	lung:	fetal
47	chr3:133969921-133969971	GM06990	blood:	n/a
48	chr3:133969921-133969971	LNCaP	prostate:	n/a
49	chr3:133969591-133969641	NB4	blood:	n/a
50	chr3:133970158-133970208	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:22413816..22414336-chr3:133969155..133969870,2	HCT-116	colon:
2	chr3:133925826..133929174-chr3:133972868..133975223,3	MCF-7	breast:
3	chr3:133961848..133963508-chr3:133970974..133972912,2	K562	blood:
4	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
5	chr3:133970115..133972265-chr3:133986843..133989271,2	MCF-7	breast:
6	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
7	chr3:133970945..133973560-chr3:133978440..133980451,2	MCF-7	breast:
8	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
9	chr3:133971742..133973681-chr3:133989273..133991521,2	MCF-7	breast:
10	chr3:133968058..133969986-chr3:134093152..134094854,2	MCF-7	breast:
11	chr12:15942011..15942548-chr3:133969611..133970273,2	Hela-S3	cervix:
12	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
13	chr3:133969194..133969719-chr3:136470769..136471350,2	Hela-S3	cervix:
14	chr12:102091137..102092560-chr3:133969061..133970004,4	Hela-S3	cervix:
15	chr19:10206614..10207226-chr3:133969204..133969782,2	NB4	blood:
16	chr3:133969091..133969747-chr7:35839773..35840580,2	Hela-S3	cervix:
17	chr3:133967100..133970573-chr3:133973529..133976629,4	MCF-7	breast:
18	chr3:133970647..133972912-chr3:133975711..133978069,2	MCF-7	breast:
19	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:

Variant related genes	Relation type
RYK	TF binding region
RYK	CpG island
ENSG00000182923	chromatin interactions
ENSG00000228878	chromatin interactions
ENSG00000114019	chromatin interactions
ENSG00000151789	chromatin interactions
ENSG00000118007	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000151491	chromatin interactions
ENSG00000130812	chromatin interactions
ENSG00000122545	chromatin interactions
ENSG00000111666	chromatin interactions
ENSG00000163785	chromatin interactions
ENSG00000260633	chromatin interactions
ENSG00000214289	chromatin interactions
ENSG00000240006	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550024418	chr3:133969427-133969428	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs587770426	chr3:133969437-133969438	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs368961042	chr3:133969438-133969439	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs587744425	chr3:133969487-133969488	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs570101510	chr3:133969592-133969593	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs200139418	chr3:133969656-133969657	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs538792529	chr3:133969704-133969705	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs565684423	chr3:133969715-133969716	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs112646711	chr3:133969770-133969771	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs528322332	chr3:133969786-133969787	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs558888515	chr3:133969793-133969794	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs572396877	chr3:133969805-133969806	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs372446678	chr3:133969815-133969816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs374302260	chr3:133969901-133969902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs535316807	chr3:133969955-133969956	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs13073076	chr3:133969969-133969970	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146108328	chr3:133969972-133969973	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs543579472	chr3:133970018-133970019	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs563552355	chr3:133970092-133970093	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs576070029	chr3:133970102-133970103	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs187799790	chr3:133970192-133970193	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs564891000	chr3:133970193-133970194	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs527253280	chr3:133970242-133970243	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs547421075	chr3:133970298-133970299	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs561140145	chr3:133970300-133970301	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs530033205	chr3:133970336-133970337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs549985629	chr3:133970338-133970339	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs191285586	chr3:133970368-133970369	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs567878368	chr3:133970383-133970384	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs12494030	chr3:133970426-133970427	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552430878	chr3:133970444-133970445	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs566172685	chr3:133970445-133970446	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs567435849	chr3:133970460-133970461	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs76501484	chr3:133970471-133970472	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs554564019	chr3:133970477-133970478	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs142439372	chr3:133970503-133970504	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs113069889	chr3:133970512-133970513	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs552688378	chr3:133970513-133970514	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs557530245	chr3:133970523-133970524	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs577408419	chr3:133970525-133970526	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs556644040	chr3:133970551-133970552	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs570033209	chr3:133970619-133970620	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs368528390	chr3:133970627-133970628	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs546389667	chr3:133970675-133970676	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs558324588	chr3:133970704-133970705	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs375840788	chr3:133970717-133970718	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs572129193	chr3:133970747-133970748	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs540994220	chr3:133970752-133970753	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs560901296	chr3:133970762-133970763	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs139269849	chr3:133970803-133970804	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133966600-133970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:133967400-133970400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:133967600-133970200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:133967800-133969800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:133967800-133970000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr3:133967800-133970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:133967800-133970200	Active TSS	A549	lung
8	chr3:133968000-133970000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:133968000-133970200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:133968000-133970200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:133968000-133970200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:133968000-133970200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:133968000-133970200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:133968000-133970200	Active TSS	Fetal Intestine Small	intestine
15	chr3:133968000-133970200	Active TSS	Hela-S3	cervix
16	chr3:133968000-133970200	Active TSS	HSMMtube	muscle
17	chr3:133968000-133970200	Active TSS	K562	blood
18	chr3:133968000-133970400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr3:133968000-133970400	Active TSS	HepG2	liver
20	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr3:133968200-133969800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr3:133968200-133970000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr3:133968200-133970000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:133968200-133970000	Active TSS	NHEK	skin
25	chr3:133968200-133970200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr3:133968200-133970200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:133968200-133970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr3:133968200-133970200	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr3:133968200-133970200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:133968200-133970200	Active TSS	Aorta	Aorta
31	chr3:133968200-133970200	Active TSS	Brain Angular Gyrus	brain
32	chr3:133968200-133970200	Active TSS	Fetal Intestine Large	intestine
33	chr3:133968200-133970200	Active TSS	Fetal Thymus	thymus
34	chr3:133968200-133970200	Active TSS	Ovary	ovary
35	chr3:133968200-133970200	Active TSS	Psoas Muscle	Psoas
36	chr3:133968200-133970200	Active TSS	HMEC	breast
37	chr3:133968200-133970200	Active TSS	HSMM	muscle
38	chr3:133968200-133970200	Active TSS	NHDF-Ad	bronchial
39	chr3:133968200-133970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:133968200-133970800	Active TSS	Right Ventricle	heart
41	chr3:133968400-133970000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:133968400-133970000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr3:133968400-133970000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:133968400-133970000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:133968400-133970000	Active TSS	Esophagus	oesophagus
46	chr3:133968400-133970000	Active TSS	NHLF	lung
47	chr3:133968400-133970200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:133968400-133970200	Active TSS	Colonic Mucosa	Colon
49	chr3:133968400-133970200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:133968400-133970200	Active TSS	Fetal Muscle Trunk	muscle

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