Variant report

Variant	esv3344907
Chromosome Location	chr15:55800209-55830551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:696)
CpG islands
(count:428)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:55806152-55806285	K562	blood:	n/a	n/a
2	ARID3A	chr15:55818712-55819023	HepG2	liver:	n/a	n/a
3	ATF3	chr15:55818765-55819007	K562	blood:	n/a	n/a
4	ATF3	chr15:55818618-55819080	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr15:55830506-55830748	K562	blood:	n/a	n/a
6	BHLHE40	chr15:55802897-55803042	K562	blood:	n/a	n/a
7	BHLHE40	chr15:55818801-55818995	K562	blood:	n/a	n/a
8	CBX3	chr15:55818676-55819112	K562	blood:	n/a	n/a
9	CBX3	chr15:55818704-55819076	K562	blood:	n/a	n/a
10	CEBPB	chr15:55823194-55823490	IMR90	lung:	n/a	n/a
11	CEBPB	chr15:55818827-55818993	K562	blood:	n/a	n/a
12	CEBPB	chr15:55818756-55819003	HepG2	liver:	n/a	n/a
13	CEBPD	chr15:55814912-55815367	K562	blood:	n/a	n/a
14	CHD2	chr15:55819026-55819079	K562	blood:	n/a	n/a
15	CHD2	chr15:55818821-55818930	HepG2	liver:	n/a	n/a
16	CTCF	chr15:55810980-55811130	RPTEC	kidney:	n/a	n/a
17	CTCF	chr15:55818611-55819060	IMR90	lung:	n/a	n/a
18	CTCF	chr15:55806080-55806230	A549	lung:	n/a	n/a
19	CTCF	chr15:55806160-55806310	HMEC	breast:	n/a	n/a
20	CTCF	chr15:55806094-55806329	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr15:55818800-55818950	GM12867	blood:	n/a	n/a
22	CTCF	chr15:55818666-55819040	GM12878	blood:	n/a	n/a
23	CTCF	chr15:55811000-55811150	GM12874	blood:	n/a	n/a
24	CTCF	chr15:55818780-55818930	GM12878	blood:	n/a	n/a
25	CTCF	chr15:55819509-55819597	Medullo	brain:	n/a	n/a
26	CTCF	chr15:55818752-55818754	GM10266	blood:	n/a	n/a
27	CTCF	chr15:55818748-55818994	Fibrobl	skin:	n/a	n/a
28	CTCF	chr15:55818779-55818980	MCF-7	breast:	n/a	n/a
29	CTCF	chr15:55818780-55818930	HCFaa	heart:	n/a	n/a
30	CTCF	chr15:55818820-55818970	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr15:55810960-55811110	GM12873	blood:	n/a	n/a
32	CTCF	chr15:55806048-55806437	GM12878	blood:	n/a	n/a
33	CTCF	chr15:55827777-55827884	K562	blood:	n/a	n/a
34	CTCF	chr15:55806180-55806330	RPTEC	kidney:	n/a	n/a
35	CTCF	chr15:55806084-55806304	K562	blood:	n/a	n/a
36	CTCF	chr15:55811000-55811150	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr15:55827700-55827850	GM12865	blood:	n/a	n/a
38	CTCF	chr15:55806192-55806335	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr15:55810920-55811070	NHEK	skin:	n/a	n/a
40	CTCF	chr15:55806125-55806295	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr15:55818320-55818470	RPTEC	kidney:	n/a	n/a
42	CTCF	chr15:55819524-55819611	MCF-7	breast:	n/a	n/a
43	CTCF	chr15:55819460-55819610	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr15:55819529-55819620	Gliobla	brain:	n/a	n/a
45	CTCF	chr15:55806123-55806332	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr15:55818737-55818959	HepG2	liver:	n/a	n/a
47	CTCF	chr15:55818760-55818910	GM12866	blood:	n/a	n/a
48	CTCF	chr15:55806160-55806310	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr15:55806180-55806330	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr15:55806160-55806310	GM12869	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:55801069-55801119	HCF	heart:	n/a
2	chr15:55801069-55801119	HCF	heart:	n/a
3	chr15:55801378-55801428	SKMC	muscle:	n/a
4	chr15:55806536-55806586	A549	lung:	n/a
5	chr15:55805949-55805999	HCPEpiC	choroid plexus:	n/a
6	chr15:55801378-55801428	Hepatocyte	liver:	n/a
7	chr15:55801378-55801428	SK-N-MC	brain:	n/a
8	chr15:55806536-55806586	HUVEC	blood vessel:	n/a
9	chr15:55803008-55803058	HEK293	kidney:	embryo
10	chr15:55800831-55800881	MCF-7	breast:	n/a
11	chr15:55806536-55806586	NH-A	brain:	n/a
12	chr15:55806536-55806586	HIPEpiC	eye:	n/a
13	chr15:55801378-55801428	HAEpiC	amniotic membrane:	n/a
14	chr15:55803008-55803058	IMR90	lung:	fetal
15	chr15:55805566-55805616	A549	lung:	n/a
16	chr15:55806536-55806586	AG10803	skin:	n/a
17	chr15:55806536-55806586	AG09319	gingival:	n/a
18	chr15:55801378-55801428	RPTEC	kidney:	n/a
19	chr15:55800831-55800881	H1-hESC	embryonic stem cell:	embryo
20	chr15:55805566-55805616	HNPCEpiC	eye:	n/a
21	chr15:55800831-55800881	HCT-116	colon:	n/a
22	chr15:55801069-55801119	Caco-2	colon:	n/a
23	chr15:55805949-55805999	U87	brain:	n/a
24	chr15:55806536-55806586	HRE	kidney:	n/a
25	chr15:55801378-55801428	SAEC	small airway:	n/a
26	chr15:55805566-55805616	HIPEpiC	eye:	n/a
27	chr15:55800831-55800881	Hepatocyte	liver:	n/a
28	chr15:55805949-55805999	GM19239	blood:	n/a
29	chr15:55806536-55806586	GM12892	blood:	n/a
30	chr15:55805949-55805999	BJ	skin:	n/a
31	chr15:55801378-55801428	Hela-S3	cervix:	n/a
32	chr15:55801069-55801119	PrEC	prostate:	n/a
33	chr15:55800831-55800881	HCPEpiC	choroid plexus:	n/a
34	chr15:55805949-55805999	H1-hESC	embryonic stem cell:	embryo
35	chr15:55805949-55805999	HCM	heart:	n/a
36	chr15:55800831-55800881	BJ	skin:	n/a
37	chr15:55800831-55800881	NT2-D1	testis:	n/a
38	chr15:55803008-55803058	K562	blood:	n/a
39	chr15:55803008-55803058	HIPEpiC	eye:	n/a
40	chr15:55805949-55805999	HPAEpiC	pulmonary alveolar:	n/a
41	chr15:55800831-55800881	K562	blood:	n/a
42	chr15:55801069-55801119	ECC-1	luminal epithelium:	n/a
43	chr15:55805566-55805616	SK-N-SH	brain:	n/a
44	chr15:55803008-55803058	AG09309	skin:	n/a
45	chr15:55801378-55801428	GM06990	blood:	n/a
46	chr15:55803008-55803058	U87	brain:	n/a
47	chr15:55805949-55805999	AG04450	lung:	fetal
48	chr15:55805949-55805999	A549	lung:	n/a
49	chr15:55805949-55805999	MCF-7	breast:	n/a
50	chr15:55803008-55803058	BE2_C	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55814401..55816505-chr15:55817575..55819685,2	K562	blood:
2	chr15:55805811..55806979-chr15:55933287..55934076,3	MCF-7	breast:
3	chr15:55814401..55816505-chr15:55817575..55819685,2	K562	blood:
4	chr15:55818426..55819436-chr15:55933526..55934353,4	MCF-7	breast:
5	chr15:55818424..55820652-chr15:55918654..55921682,3	MCF-7	breast:
6	chr15:55818773..55820947-chr15:55823916..55827475,3	K562	blood:
7	chr15:55824404..55826095-chr15:55826140..55828917,2	MCF-7	breast:
8	chr15:55808580..55811274-chr15:55928806..55931409,2	MCF-7	breast:
9	chr15:55818609..55819363-chr15:55933519..55934249,2	MCF-7	breast:
10	chr15:55824404..55826095-chr15:55826140..55828917,2	MCF-7	breast:
11	chr15:55818674..55821558-chr15:55828731..55830449,2	MCF-7	breast:
12	chr15:55818773..55820947-chr15:55823916..55827475,3	K562	blood:
13	chr15:55811685..55812599-chr15:55933611..55934492,2	MCF-7	breast:
14	chr15:55818674..55821558-chr15:55828731..55830449,2	MCF-7	breast:

No data

Variant related genes	Relation type
DYX1C1	TF binding region
DYX1C1	CpG island

Extended variants
information (count: 1269 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149584376	chr15:55800269-55800270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563795363	chr15:55800375-55800376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373091326	chr15:55800460-55800461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143304168	chr15:55800467-55800468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559441813	chr15:55800524-55800525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528484971	chr15:55800564-55800565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148349344	chr15:55800572-55800573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142185188	chr15:55800575-55800576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146381188	chr15:55800583-55800584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549528339	chr15:55800586-55800587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200904517	chr15:55800590-55800591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569418226	chr15:55800598-55800599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538306922	chr15:55800599-55800600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549277673	chr15:55800606-55800607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192613807	chr15:55800629-55800630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139758850	chr15:55800630-55800631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376403088	chr15:55800646-55800647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185007592	chr15:55800662-55800663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544046430	chr15:55800681-55800682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189121419	chr15:55800686-55800687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141496847	chr15:55800693-55800694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560667675	chr15:55800694-55800695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546029374	chr15:55800697-55800698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559791097	chr15:55800699-55800700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528513281	chr15:55800710-55800711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542186978	chr15:55800712-55800713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560861813	chr15:55800721-55800722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191592222	chr15:55800729-55800730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184909202	chr15:55800731-55800732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189274303	chr15:55800737-55800738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567674395	chr15:55800740-55800741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181946139	chr15:55800743-55800744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532324458	chr15:55800748-55800749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367671717	chr15:55800753-55800754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565745955	chr15:55800756-55800757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386784242	chr15:55800757-55800758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139056106	chr15:55800758-55800759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570488208	chr15:55800777-55800778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537695059	chr15:55800779-55800780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539539931	chr15:55800783-55800784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8042087	chr15:55800787-55800788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552856107	chr15:55800804-55800805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4774775	chr15:55800814-55800815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553221963	chr15:55800815-55800816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186590168	chr15:55800825-55800826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140464309	chr15:55800831-55800832	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs371568329	chr15:55800833-55800834	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs16787	chr15:55800837-55800838	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	mRNA abundance
49	rs555742734	chr15:55800843-55800844	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs543350566	chr15:55800877-55800878	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55800200-55801000	Enhancers	Psoas Muscle	Psoas
2	chr15:55803000-55803400	Enhancers	K562	blood
3	chr15:55803400-55804800	Weak transcription	K562	blood
4	chr15:55804800-55805600	Enhancers	K562	blood
5	chr15:55805000-55805600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:55805200-55805800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:55805200-55806200	Enhancers	Fetal Lung	lung
8	chr15:55805400-55806200	Enhancers	Fetal Muscle Leg	muscle
9	chr15:55805400-55809000	Enhancers	Placenta	Placenta
10	chr15:55805600-55807400	Weak transcription	K562	blood
11	chr15:55806000-55806200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr15:55806000-55809400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:55806200-55818600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:55806400-55807800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr15:55807400-55808400	Enhancers	K562	blood
16	chr15:55808600-55809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:55815800-55818800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:55818600-55818800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr15:55818600-55818800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:55818600-55818800	Enhancers	HepG2	liver
21	chr15:55818600-55819200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr15:55818800-55819000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr15:55818800-55819000	Active TSS	Stomach Smooth Muscle	stomach
24	chr15:55818800-55819000	Enhancers	HSMM	muscle
25	chr15:55818800-55819000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr15:55818800-55819200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:55818800-55819200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:55818800-55819200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr15:55818800-55819200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:55818800-55819200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:55818800-55819200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr15:55818800-55819200	Enhancers	Primary B cells from peripheral blood	blood
33	chr15:55818800-55819200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr15:55818800-55819200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:55818800-55819200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:55818800-55819200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:55818800-55819200	Enhancers	Adipose Nuclei	Adipose
38	chr15:55818800-55819200	Active TSS	Brain Anterior Caudate	brain
39	chr15:55818800-55819200	Enhancers	Placenta	Placenta
40	chr15:55818800-55819200	Enhancers	Pancreas	Pancrea
41	chr15:55818800-55819200	Active TSS	Rectal Smooth Muscle	rectum
42	chr15:55818800-55819200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr15:55818800-55819200	Enhancers	Stomach Mucosa	stomach
44	chr15:55818800-55819200	Enhancers	GM12878-XiMat	blood
45	chr15:55818800-55819200	Enhancers	Hela-S3	cervix
46	chr15:55818800-55819200	Enhancers	NH-A	brain
47	chr15:55818800-55819400	Enhancers	Gastric	stomach
48	chr15:55818800-55819400	Flanking Active TSS	HepG2	liver
49	chr15:55819000-55819200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:55819000-55819200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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