Variant report

Variant	rs113428006
Chromosome Location	chr8:1712049-1712050
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	POLR2A	chr8:1711813-1712158	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr8:1711796-1712946	H1-hESC	embryonic stem cell:	n/a	chr8:1712674-1712693 chr8:1712679-1712688 chr8:1712678-1712689 chr8:1712448-1712457
3	JUND	chr8:1711775-1712138	A549	lung:	n/a	chr8:1712006-1712015
4	POLR2A	chr8:1711807-1713001	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPD	chr8:1711783-1712163	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:1711156-1713034	GM19099	blood:	n/a	n/a
7	POLR2A	chr8:1711823-1712169	GM12892	blood:	n/a	n/a
8	E2F6	chr8:1711760-1712088	K562	blood:	n/a	n/a
9	POLR2A	chr8:1710968-1713116	GM18951	blood:	n/a	n/a
10	NRF1	chr8:1711740-1712108	K562	blood:	n/a	chr8:1711923-1711934 chr8:1711904-1711915
11	POLR2A	chr8:1711871-1712126	GM12878	blood:	n/a	n/a
12	ATF2	chr8:1711802-1712124	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr8:1711790-1713032	HepG2	liver:	n/a	chr8:1712674-1712693 chr8:1712679-1712688 chr8:1712678-1712689 chr8:1712448-1712457
14	POLR2A	chr8:1711845-1714193	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:1711816-1712226	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr8:1711801-1712950	A549	lung:	n/a	chr8:1712899-1712906 chr8:1712900-1712910 chr8:1712667-1712677
17	POLR2A	chr8:1711158-1712982	MCF-7	breast:	n/a	n/a
18	POLR2A	chr8:1711797-1712207	HepG2	liver:	n/a	n/a
19	MXI1	chr8:1711813-1712829	GM12878	blood:	n/a	n/a
20	MYC	chr8:1711774-1712162	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr8:1704744-1714404	K562	blood:	n/a	n/a
22	POLR2A	chr8:1711833-1713369	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr8:1711796-1713063	HCT-116	colon:	n/a	n/a
24	POLR2A	chr8:1711830-1713060	HepG2	liver:	n/a	n/a
25	HA-E2F1	chr8:1711771-1712174	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr8:1711787-1712163	H1-neurons	neurons:	n/a	n/a
27	YY1	chr8:1711838-1712137	SK-N-SH_RA	brain:	n/a	chr8:1712010-1712024
28	BHLHE40	chr8:1711206-1712723	GM12878	blood:	n/a	chr8:1712616-1712632
29	ZBTB7A	chr8:1711880-1713128	ECC-1	luminal epithelium:	n/a	chr8:1712841-1712850
30	JUN	chr8:1711867-1712070	H1-hESC	embryonic stem cell:	n/a	chr8:1712006-1712015
31	STAT3	chr8:1711847-1712085	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:1711874-1712135	HepG2	liver:	n/a	n/a
33	TBL1XR1	chr8:1711801-1712067	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:1711164-1712800	GM18526	blood:	n/a	n/a
35	MAX	chr8:1711801-1713095	HCT-116	colon:	n/a	chr8:1712674-1712693 chr8:1712679-1712688 chr8:1712678-1712689 chr8:1712448-1712457
36	POLR2A	chr8:1711836-1713590	HepG2	liver:	n/a	n/a
37	ELK1	chr8:1711852-1712085	Hela-S3	cervix:	n/a	n/a
38	EGR1	chr8:1711802-1712072	K562	blood:	n/a	n/a
39	POLR2A	chr8:1711866-1712091	GM12891	blood:	n/a	n/a
40	JUND	chr8:1711869-1712136	HepG2	liver:	n/a	chr8:1712006-1712015
41	POLR2A	chr8:1711805-1712242	H1-neurons	neurons:	n/a	n/a
42	BCL3	chr8:1711834-1712485	A549	lung:	n/a	chr8:1712414-1712427 chr8:1712415-1712428 chr8:1712008-1712017
43	POLR2A	chr8:1711884-1714617	PBDE	blood:	n/a	n/a
44	TCF3	chr8:1711967-1712265	GM12878	blood:	n/a	n/a
45	MAX	chr8:1711932-1713043	HepG2	liver:	n/a	chr8:1712674-1712693 chr8:1712679-1712688 chr8:1712678-1712689 chr8:1712448-1712457
46	EGR1	chr8:1711798-1712100	K562	blood:	n/a	n/a
47	RCOR1	chr8:1711860-1712302	GM12878	blood:	n/a	n/a
48	MAFK	chr8:1712012-1712113	HepG2	liver:	n/a	n/a
49	E2F6	chr8:1711808-1712211	H1-hESC	embryonic stem cell:	n/a	n/a
50	PBX3	chr8:1711890-1712135	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1712007-1712057	AG04449	skin:	fetal
2	chr8:1712007-1712057	SKMC	muscle:	n/a
3	chr8:1712007-1712057	HCT-116	colon:	n/a
4	chr8:1712007-1712057	H1-hESC	embryonic stem cell:	embryo
5	chr8:1712007-1712057	HPAEpiC	pulmonary alveolar:	n/a
6	chr8:1712007-1712057	HUVEC	blood vessel:	n/a
7	chr8:1712007-1712057	NHBE	bronchial:	n/a
8	chr8:1712007-1712057	HCF	heart:	n/a
9	chr8:1712007-1712057	HRE	kidney:	n/a
10	chr8:1712007-1712057	U87	brain:	n/a
11	chr8:1712007-1712057	MCF10A-Er-Src	breast:	n/a
12	chr8:1712007-1712057	SAEC	small airway:	n/a
13	chr8:1712007-1712057	HIPEpiC	eye:	n/a
14	chr8:1712007-1712057	A549	lung:	n/a
15	chr8:1712007-1712057	AG04450	lung:	fetal
16	chr8:1712007-1712057	GM19239	blood:	n/a
17	chr8:1712007-1712057	HEEpiC	esophagus:	n/a
18	chr8:1712007-1712057	NB4	blood:	n/a
19	chr8:1712007-1712057	ProgFib	skin:	n/a
20	chr8:1712007-1712057	RPTEC	kidney:	n/a
21	chr8:1712007-1712057	ovcar-3	ovarian:	n/a
22	chr8:1712007-1712057	K562	blood:	n/a
23	chr8:1712007-1712057	HRPEpiC	eye:	n/a
24	chr8:1712007-1712057	GM12878	blood:	n/a
25	chr8:1712007-1712057	Hela-S3	cervix:	n/a
26	chr8:1712007-1712057	HRCEpiC	kidney:	n/a
27	chr8:1712007-1712057	HCPEpiC	choroid plexus:	n/a
28	chr8:1712007-1712057	Hepatocyte	liver:	n/a
29	chr8:1712007-1712057	NT2-D1	testis:	n/a
30	chr8:1712007-1712057	HL-60	blood:	n/a
31	chr8:1712007-1712057	GM12892	blood:	n/a
32	chr8:1712007-1712057	GM06990	blood:	n/a
33	chr8:1712007-1712057	Caco-2	colon:	n/a
34	chr8:1712007-1712057	BE2_C	brain:	n/a
35	chr8:1712007-1712057	NHDF-neo	bronchial:	n/a
36	chr8:1712007-1712057	CMK	blood:	n/a
37	chr8:1712007-1712057	HAEpiC	amniotic membrane:	n/a
38	chr8:1712007-1712057	MCF-7	breast:	n/a
39	chr8:1712007-1712057	IMR90	lung:	fetal
40	chr8:1712007-1712057	Jurkat	blood:	n/a
41	chr8:1712007-1712057	AG09309	skin:	n/a
42	chr8:1712007-1712057	AG10803	skin:	n/a
43	chr8:1712007-1712057	HNPCEpiC	eye:	n/a
44	chr8:1712007-1712057	BJ	skin:	n/a
45	chr8:1712007-1712057	SK-N-SH_RA	brain:	n/a
46	chr8:1712007-1712057	LNCaP	prostate:	n/a
47	chr8:1712007-1712057	HCM	heart:	n/a
48	chr8:1712007-1712057	PANC-1	pancreas:	n/a
49	chr8:1712007-1712057	GM12891	blood:	n/a
50	chr8:1712007-1712057	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:1710901..1715165-chr8:1763143..1767602,4	K562	blood:
2	chr8:1676916..1679793-chr8:1711386..1713857,2	K562	blood:
3	chr8:1711111..1712724-chr8:1772703..1775383,2	MCF-7	breast:
4	chr8:1702392..1708895-chr8:1709221..1714010,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253982	TF binding region
ENSG00000253982	CpG island
ENSG00000254265	Chromatin interaction
ENSG00000104728	Chromatin interaction
ENSG00000207826	Chromatin interaction
ENSG00000182372	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
13	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv465274	chr8:1685064-1728292	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv609528	chr8:1685064-1728292	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
18	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
19	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
20	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
21	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
22	esv3358001	chr8:1710645-1712743	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	esv3371041	chr8:1710770-1713318	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:1710400-1712200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:1710600-1712200	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:1710600-1712400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr8:1710600-1712600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:1710600-1712600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:1710600-1712600	Active TSS	Placenta Amnion	Placenta Amnion
7	chr8:1710600-1712800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:1710600-1713000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:1710600-1713000	Active TSS	Ovary	ovary
10	chr8:1710600-1713200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:1710600-1713400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:1710600-1713400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:1710600-1713400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:1710600-1713600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:1710600-1714000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:1710800-1712400	Active TSS	Psoas Muscle	Psoas
17	chr8:1710800-1712600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr8:1710800-1712600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:1710800-1712600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:1710800-1712600	Active TSS	Placenta	Placenta
21	chr8:1710800-1712600	Active TSS	Lung	lung
22	chr8:1710800-1712600	Active TSS	Right Atrium	heart
23	chr8:1710800-1712800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:1710800-1712800	Active TSS	Aorta	Aorta
25	chr8:1710800-1712800	Active TSS	Fetal Intestine Large	intestine
26	chr8:1710800-1713000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr8:1710800-1713000	Active TSS	NHDF-Ad	bronchial
28	chr8:1710800-1713200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr8:1710800-1713200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:1710800-1713200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:1710800-1713200	Active TSS	Gastric	stomach
32	chr8:1710800-1713400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:1710800-1713600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:1711000-1712200	Active TSS	Fetal Brain Female	brain
35	chr8:1711000-1712400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:1711000-1712600	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr8:1711000-1712600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr8:1711000-1712600	Active TSS	Brain Hippocampus Middle	brain
39	chr8:1711000-1712600	Active TSS	Colonic Mucosa	Colon
40	chr8:1711000-1712600	Active TSS	Colon Smooth Muscle	Colon
41	chr8:1711000-1712600	Active TSS	Esophagus	oesophagus
42	chr8:1711000-1712600	Active TSS	Fetal Stomach	stomach
43	chr8:1711000-1712600	Active TSS	Left Ventricle	heart
44	chr8:1711000-1712600	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:1711000-1712800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:1711000-1712800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:1711000-1712800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:1711000-1712800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:1711000-1712800	Active TSS	Brain Angular Gyrus	brain
50	chr8:1711000-1712800	Active TSS	Brain Cingulate Gyrus	brain

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