Variant report

Variant	rs535316807
Chromosome Location	chr3:133969955-133969956
allele	C/T
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	MAZ	chr3:133969571-133970022	HepG2	liver:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
2	POLR2A	chr3:133969533-133970150	HL-60	blood:	n/a	n/a
3	SP4	chr3:133969624-133970023	H1-hESC	embryonic stem cell:	n/a	n/a
4	PML	chr3:133969551-133969987	K562	blood:	n/a	n/a
5	TAF1	chr3:133969477-133970001	HepG2	liver:	n/a	n/a
6	SP1	chr3:133969714-133970061	A549	lung:	n/a	chr3:133969850-133969859 chr3:133969851-133969860 chr3:133969850-133969859
7	POLR2A	chr3:133969037-133970093	ECC-1	luminal epithelium:	n/a	n/a
8	GTF2F1	chr3:133969637-133969991	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr3:133969608-133970085	K562	blood:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
10	POLR2A	chr3:133969430-133970066	HCT-116	colon:	n/a	n/a
11	POLR2A	chr3:133969031-133970111	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:133969540-133970107	U87	brain:	n/a	n/a
13	POLR2A	chr3:133969114-133969997	GM10847	blood:	n/a	n/a
14	POLR2A	chr3:133969501-133970064	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:133968982-133970045	GM15510	blood:	n/a	n/a
16	HCFC1	chr3:133969600-133969967	K562	blood:	n/a	n/a
17	POLR2A	chr3:133969517-133970109	SK-N-MC	brain:	n/a	n/a
18	SIN3A	chr3:133969706-133970037	GM12878	blood:	n/a	n/a
19	HEY1	chr3:133969504-133969961	HepG2	liver:	n/a	chr3:133969587-133969602 chr3:133969655-133969670 chr3:133969658-133969673 chr3:133969714-133969729
20	PML	chr3:133969527-133970010	MCF-7	breast:	n/a	n/a
21	POLR2A	chr3:133969492-133970030	GM12878	blood:	n/a	n/a
22	E2F6	chr3:133969607-133970228	A549	lung:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
23	POLR2A	chr3:133969510-133970057	HUVEC	blood vessel:	n/a	n/a
24	E2F6	chr3:133969614-133970016	K562	blood:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969660-133969670 chr3:133969653-133969662 chr3:133969942-133969952
25	MAX	chr3:133969471-133970223	HepG2	liver:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
26	POLR2A	chr3:133969539-133970057	K562	blood:	n/a	n/a
27	POLR2A	chr3:133969033-133970102	MCF-7	breast:	n/a	n/a
28	HA-E2F1	chr3:133968983-133970118	Hela-S3	cervix:	n/a	chr3:133969721-133969730 chr3:133969657-133969667 chr3:133969587-133969597 chr3:133969660-133969670 chr3:133969152-133969161 chr3:133969152-133969164 chr3:133969653-133969662 chr3:133969942-133969952
29	HDAC2	chr3:133969536-133970008	HepG2	liver:	n/a	n/a
30	POLR2A	chr3:133969486-133970030	HUVEC	blood vessel:	n/a	n/a
31	SIN3AK20	chr3:133969528-133970060	SK-N-SH	brain:	n/a	n/a
32	SIN3AK20	chr3:133968851-133970044	PANC-1	pancreas:	n/a	n/a
33	MAX	chr3:133969514-133970197	A549	lung:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
34	POLR2A	chr3:133968887-133970071	GM18505	blood:	n/a	n/a
35	POLR2A	chr3:133969539-133970146	PANC-1	pancreas:	n/a	n/a
36	MAX	chr3:133969528-133970197	A549	lung:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
37	POLR2A	chr3:133969469-133970040	K562	blood:	n/a	n/a
38	CEBPB	chr3:133969792-133970177	IMR90	lung:	n/a	n/a
39	USF2	chr3:133969818-133969986	H1-hESC	embryonic stem cell:	n/a	chr3:133969941-133969957
40	POLR2A	chr3:133969069-133970093	K562	blood:	n/a	n/a
41	CTCF	chr3:133969820-133969970	GM12869	blood:	n/a	n/a
42	POLR2A	chr3:133969506-133970047	A549	lung:	n/a	n/a
43	TAF1	chr3:133969536-133969975	SK-N-SH	brain:	n/a	n/a
44	ELF1	chr3:133968909-133970069	GM12878	blood:	n/a	chr3:133969658-133969670 chr3:133969578-133969590 chr3:133969149-133969161 chr3:133969724-133969733 chr3:133969662-133969671 chr3:133969659-133969668 chr3:133969242-133969254 chr3:133969656-133969665
45	POLR2A	chr3:133968953-133970135	MCF-7	breast:	n/a	n/a
46	MAX	chr3:133969524-133970192	ECC-1	luminal epithelium:	n/a	chr3:133969859-133969866 chr3:133969855-133969864
47	POLR2A	chr3:133969517-133970004	HepG2	liver:	n/a	n/a
48	POLR2A	chr3:133968992-133970013	A549	lung:	n/a	n/a
49	HEY1	chr3:133969492-133970104	HepG2	liver:	n/a	chr3:133969587-133969602 chr3:133969655-133969670 chr3:133969658-133969673 chr3:133969714-133969729
50	MAX	chr3:133969737-133970068	H1-hESC	embryonic stem cell:	n/a	chr3:133969859-133969866 chr3:133969855-133969864

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:133969921-133969971	AG10803	skin:	n/a
2	chr3:133969921-133969971	HMEC	breast:	n/a
3	chr3:133969921-133969971	SK-N-SH_RA	brain:	n/a
4	chr3:133969921-133969971	PFSK-1	brain:	n/a
5	chr3:133969914-133969964	HMEC	breast:	n/a
6	chr3:133969914-133969964	MCF10A-Er-Src	breast:	n/a
7	chr3:133969921-133969971	PrEC	prostate:	n/a
8	chr3:133969921-133969971	HUVEC	blood vessel:	n/a
9	chr3:133969914-133969964	T-47D	breast:	n/a
10	chr3:133969914-133969964	HIPEpiC	eye:	n/a
11	chr3:133969914-133969964	HCPEpiC	choroid plexus:	n/a
12	chr3:133969921-133969971	AG04449	skin:	fetal
13	chr3:133969921-133969971	ovcar-3	ovarian:	n/a
14	chr3:133969914-133969964	GM06990	blood:	n/a
15	chr3:133969914-133969964	NB4	blood:	n/a
16	chr3:133969921-133969971	AG09319	gingival:	n/a
17	chr3:133969914-133969964	BE2_C	brain:	n/a
18	chr3:133969914-133969964	H1-hESC	embryonic stem cell:	embryo
19	chr3:133969921-133969971	HNPCEpiC	eye:	n/a
20	chr3:133969921-133969971	LNCaP	prostate:	n/a
21	chr3:133969914-133969964	SKMC	muscle:	n/a
22	chr3:133969914-133969964	GM12892	blood:	n/a
23	chr3:133969921-133969971	Jurkat	blood:	n/a
24	chr3:133969921-133969971	HCPEpiC	choroid plexus:	n/a
25	chr3:133969914-133969964	AG04449	skin:	fetal
26	chr3:133969914-133969964	U87	brain:	n/a
27	chr3:133969914-133969964	ProgFib	skin:	n/a
28	chr3:133969914-133969964	HCT-116	colon:	n/a
29	chr3:133969914-133969964	K562	blood:	n/a
30	chr3:133969921-133969971	SAEC	small airway:	n/a
31	chr3:133969921-133969971	H1-hESC	embryonic stem cell:	embryo
32	chr3:133969921-133969971	NHDF-neo	bronchial:	n/a
33	chr3:133969914-133969964	HAEpiC	amniotic membrane:	n/a
34	chr3:133969921-133969971	HAEpiC	amniotic membrane:	n/a
35	chr3:133969921-133969971	HepG2	liver:	n/a
36	chr3:133969914-133969964	AG09309	skin:	n/a
37	chr3:133969921-133969971	SKMC	muscle:	n/a
38	chr3:133969921-133969971	T-47D	breast:	n/a
39	chr3:133969914-133969964	AG04450	lung:	fetal
40	chr3:133969914-133969964	GM19239	blood:	n/a
41	chr3:133969914-133969964	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:133969921-133969971	HCM	heart:	n/a
43	chr3:133969914-133969964	PrEC	prostate:	n/a
44	chr3:133969921-133969971	Hepatocyte	liver:	n/a
45	chr3:133969914-133969964	HCM	heart:	n/a
46	chr3:133969921-133969971	IMR90	lung:	fetal
47	chr3:133969921-133969971	AoSMC	blood vessel:	n/a
48	chr3:133969921-133969971	HCT-116	colon:	n/a
49	chr3:133969914-133969964	HepG2	liver:	n/a
50	chr3:133969914-133969964	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:133969851..133972992-chr3:133976680..133979913,3	K562	blood:
2	chr3:133967562..133971327-chr3:134067822..134072418,4	MCF-7	breast:
3	chr3:133969328..133972317-chr3:134030794..134032589,3	MCF-7	breast:
4	chr12:102091137..102092560-chr3:133969061..133970004,4	Hela-S3	cervix:
5	chr3:133969854..133971498-chr3:134203715..134206373,2	K562	blood:
6	chr3:133968058..133969986-chr3:134093152..134094854,2	MCF-7	breast:
7	chr3:133969506..133971460-chr3:134202147..134204798,2	K562	blood:
8	chr12:15942011..15942548-chr3:133969611..133970273,2	Hela-S3	cervix:

Variant related genes	Relation type
RYK	TF binding region
RYK	CpG island
ENSG00000214289	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000114019	Chromatin interaction
ENSG00000151491	Chromatin interaction
ENSG00000111666	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000260633	Chromatin interaction
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv3406249	chr3:133968537-133970760	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1792549	chr3:133969361-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	esv1798144	chr3:133969361-133973731	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	esv1838610	chr3:133969361-133973731	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	esv1842254	chr3:133969361-133973731	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

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	chr3:133967800-133970000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:133967800-133970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:133967800-133970200	Active TSS	A549	lung
7	chr3:133968000-133970000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:133968000-133970200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:133968000-133970200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:133968000-133970200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:133968000-133970200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:133968000-133970200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:133968000-133970200	Active TSS	Fetal Intestine Small	intestine
14	chr3:133968000-133970200	Active TSS	Hela-S3	cervix
15	chr3:133968000-133970200	Active TSS	HSMMtube	muscle
16	chr3:133968000-133970200	Active TSS	K562	blood
17	chr3:133968000-133970400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr3:133968000-133970400	Active TSS	HepG2	liver
19	chr3:133968000-133970800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr3:133968200-133970000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:133968200-133970000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:133968200-133970000	Active TSS	NHEK	skin
23	chr3:133968200-133970200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr3:133968200-133970200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr3:133968200-133970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:133968200-133970200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr3:133968200-133970200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:133968200-133970200	Active TSS	Aorta	Aorta
29	chr3:133968200-133970200	Active TSS	Brain Angular Gyrus	brain
30	chr3:133968200-133970200	Active TSS	Fetal Intestine Large	intestine
31	chr3:133968200-133970200	Active TSS	Fetal Thymus	thymus
32	chr3:133968200-133970200	Active TSS	Ovary	ovary
33	chr3:133968200-133970200	Active TSS	Psoas Muscle	Psoas
34	chr3:133968200-133970200	Active TSS	HMEC	breast
35	chr3:133968200-133970200	Active TSS	HSMM	muscle
36	chr3:133968200-133970200	Active TSS	NHDF-Ad	bronchial
37	chr3:133968200-133970600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:133968200-133970800	Active TSS	Right Ventricle	heart
39	chr3:133968400-133970000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:133968400-133970000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr3:133968400-133970000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:133968400-133970000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:133968400-133970000	Active TSS	Esophagus	oesophagus
44	chr3:133968400-133970000	Active TSS	NHLF	lung
45	chr3:133968400-133970200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:133968400-133970200	Active TSS	Colonic Mucosa	Colon
47	chr3:133968400-133970200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:133968400-133970200	Active TSS	Fetal Muscle Trunk	muscle
49	chr3:133968400-133970200	Active TSS	Lung	lung
50	chr3:133968400-133970200	Active TSS	Pancreas	Pancrea

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