Variant report

Variant	rs207461402
Chromosome Location	chr1:247494960-247494961
allele	A/G
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	REST	chr1:247494379-247495375	PFSK-1	brain:	n/a	n/a
2	UBTF	chr1:247494404-247496504	K562	blood:	n/a	n/a
3	POLR2A	chr1:247494921-247495550	A549	lung:	n/a	n/a
4	SIN3A	chr1:247493833-247497073	H1-hESC	embryonic stem cell:	n/a	chr1:247495631-247495642 chr1:247495953-247495964
5	MAX	chr1:247494908-247496081	MCF-7	breast:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
6	TAF1	chr1:247494284-247495892	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr1:247494289-247497747	K562	blood:	n/a	chr1:247494564-247494579
8	YY1	chr1:247494538-247495115	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:247494953-247495971	SK-N-SH	brain:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
10	IRF1	chr1:247494430-247495375	K562	blood:	n/a	chr1:247494568-247494582
11	UBTF	chr1:247494251-247496736	K562	blood:	n/a	n/a
12	POLR2A	chr1:247494334-247495960	Hela-S3	cervix:	n/a	n/a
13	HEY1	chr1:247494359-247495610	HepG2	liver:	n/a	chr1:247494564-247494579
14	E2F6	chr1:247494954-247495191	K562	blood:	n/a	chr1:247494976-247494985
15	POLR2A	chr1:247494233-247495033	U87	brain:	n/a	n/a
16	ELF1	chr1:247494100-247496415	GM12878	blood:	n/a	chr1:247495199-247495212 chr1:247494665-247494677 chr1:247496347-247496358
17	ELF1	chr1:247494925-247495994	MCF-7	breast:	n/a	chr1:247495199-247495212
18	ZBTB7A	chr1:247494951-247496133	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr1:247494856-247495863	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:247494338-247495763	SK-N-SH	brain:	n/a	n/a
21	TAF1	chr1:247494931-247495518	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:247494337-247495995	HCT-116	colon:	n/a	n/a
23	MAX	chr1:247494376-247495977	Hela-S3	cervix:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
24	POLR2A	chr1:247494841-247495572	HUVEC	blood vessel:	n/a	n/a
25	TAF7	chr1:247494748-247495790	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr1:247494838-247495538	A549	lung:	n/a	chr1:247495256-247495265
27	POLR2A	chr1:247494239-247495027	U87	brain:	n/a	n/a
28	REST	chr1:247494328-247494970	H1-neurons	neurons:	n/a	n/a
29	POU2F2	chr1:247494723-247495312	GM12878	blood:	n/a	chr1:247494976-247494988
30	TBP	chr1:247494396-247495375	HepG2	liver:	n/a	n/a
31	POLR2A	chr1:247494358-247495781	HEK293	kidney:	n/a	n/a
32	POLR2A	chr1:247494422-247505513	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:247494250-247495914	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr1:247494398-247496436	NB4	blood:	n/a	n/a
35	SIN3AK20	chr1:247494785-247495832	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:247493944-247495972	H1-neurons	neurons:	n/a	n/a
37	YY1	chr1:247494383-247495427	ECC-1	luminal epithelium:	n/a	chr1:247495252-247495263 chr1:247495255-247495264
38	POLR2A	chr1:247494318-247498379	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:247494736-247495432	A549	lung:	n/a	n/a
40	MYC	chr1:247494439-247496518	NB4	blood:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
41	POLR2A	chr1:247494315-247496009	K562	blood:	n/a	n/a
42	POLR2A	chr1:247494925-247495635	K562	blood:	n/a	n/a
43	POLR2A	chr1:247494312-247496028	GM19099	blood:	n/a	n/a
44	EGR1	chr1:247494879-247495509	K562	blood:	n/a	chr1:247495255-247495265 chr1:247495254-247495264 chr1:247495250-247495263 chr1:247495200-247495209
45	POLR2A	chr1:247494939-247495368	GM12892	blood:	n/a	n/a
46	POLR2A	chr1:247494951-247495469	A549	lung:	n/a	n/a
47	MAX	chr1:247493811-247496029	ECC-1	luminal epithelium:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
48	MYC	chr1:247494363-247496744	MCF10A-Er-Src	breast:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
49	POLR2A	chr1:247494335-247495530	GM12892	blood:	n/a	n/a
50	RCOR1	chr1:247494257-247496645	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247494926-247494976	MCF-7	breast:	n/a
2	chr1:247494926-247494976	BJ	skin:	n/a
3	chr1:247494926-247494976	HNPCEpiC	eye:	n/a
4	chr1:247494926-247494976	LNCaP	prostate:	n/a
5	chr1:247494926-247494976	AG04450	lung:	fetal
6	chr1:247494926-247494976	SKMC	muscle:	n/a
7	chr1:247494926-247494976	SK-N-MC	brain:	n/a
8	chr1:247494926-247494976	HCT-116	colon:	n/a
9	chr1:247494926-247494976	ECC-1	luminal epithelium:	n/a
10	chr1:247494926-247494976	H1-hESC	embryonic stem cell:	embryo
11	chr1:247494926-247494976	HRE	kidney:	n/a
12	chr1:247494926-247494976	NT2-D1	testis:	n/a
13	chr1:247494926-247494976	GM19239	blood:	n/a
14	chr1:247494926-247494976	HUVEC	blood vessel:	n/a
15	chr1:247494926-247494976	HepG2	liver:	n/a
16	chr1:247494926-247494976	NHDF-neo	bronchial:	n/a
17	chr1:247494926-247494976	T-47D	breast:	n/a
18	chr1:247494926-247494976	HEEpiC	esophagus:	n/a
19	chr1:247494926-247494976	Caco-2	colon:	n/a
20	chr1:247494926-247494976	PrEC	prostate:	n/a
21	chr1:247494926-247494976	NH-A	brain:	n/a
22	chr1:247494926-247494976	AG04449	skin:	fetal
23	chr1:247494926-247494976	HEK293	kidney:	embryo
24	chr1:247494926-247494976	HRCEpiC	kidney:	n/a
25	chr1:247494926-247494976	AG09309	skin:	n/a
26	chr1:247494926-247494976	HAEpiC	amniotic membrane:	n/a
27	chr1:247494926-247494976	PFSK-1	brain:	n/a
28	chr1:247494926-247494976	GM06990	blood:	n/a
29	chr1:247494926-247494976	HCM	heart:	n/a
30	chr1:247494926-247494976	NB4	blood:	n/a
31	chr1:247494926-247494976	RPTEC	kidney:	n/a
32	chr1:247494926-247494976	SK-N-SH	brain:	n/a
33	chr1:247494926-247494976	ovcar-3	ovarian:	n/a
34	chr1:247494926-247494976	IMR90	lung:	fetal
35	chr1:247494926-247494976	HCF	heart:	n/a
36	chr1:247494926-247494976	AG10803	skin:	n/a
37	chr1:247494926-247494976	A549	lung:	n/a
38	chr1:247494926-247494976	PANC-1	pancreas:	n/a
39	chr1:247494926-247494976	AoSMC	blood vessel:	n/a
40	chr1:247494926-247494976	SK-N-SH_RA	brain:	n/a
41	chr1:247494926-247494976	HIPEpiC	eye:	n/a
42	chr1:247494926-247494976	SAEC	small airway:	n/a
43	chr1:247494926-247494976	HCPEpiC	choroid plexus:	n/a
44	chr1:247494926-247494976	GM12878	blood:	n/a
45	chr1:247494926-247494976	HRPEpiC	eye:	n/a
46	chr1:247494926-247494976	HL-60	blood:	n/a
47	chr1:247494926-247494976	Hepatocyte	liver:	n/a
48	chr1:247494926-247494976	BE2_C	brain:	n/a
49	chr1:247494926-247494976	Hela-S3	cervix:	n/a
50	chr1:247494926-247494976	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:247371506..247373896-chr1:247494793..247496492,2	K562	blood:
2	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
3	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
4	chr1:247494766..247495584-chr12:123849315..123850422,3	Hela-S3	cervix:
5	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
6	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:
7	chr1:247266988..247268956-chr1:247494459..247496057,2	MCF-7	breast:
8	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
9	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
10	chr1:247373865..247374385-chr1:247494539..247495272,2	NB4	blood:
11	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:

Variant related genes	Relation type
ZNF496	TF binding region
ZNF496	CpG island
ENSG00000135747	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000153207	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000227671	Chromatin interaction
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	esv1848384	chr1:247485654-247495666	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
7	esv1811709	chr1:247491143-247495666	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
8	esv1840501	chr1:247491143-247495666	Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
9	esv3437414	chr1:247494354-247496902	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
10	esv17401	chr1:247494711-247495773	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
11	nsv549588	chr1:247494738-247495666	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
12	nsv549589	chr1:247494738-247495693	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
13	nsv549590	chr1:247494789-247495588	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
14	nsv549591	chr1:247494789-247495666	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
15	nsv549592	chr1:247494789-247495693	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
16	esv1799864	chr1:247494789-247500650	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
17	nsv549593	chr1:247494841-247495693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
18	nsv549594	chr1:247494893-247495693	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
19	nsv549595	chr1:247494944-247495693	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247493600-247496400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:247493800-247495400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:247493800-247495800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247493800-247496200	Active TSS	HSMMtube	muscle
5	chr1:247493800-247496400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:247493800-247496600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:247494000-247495000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:247494000-247495000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:247494000-247496000	Active TSS	NHLF	lung
10	chr1:247494000-247496400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:247494000-247496400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:247494000-247496400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:247494000-247496400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:247494000-247496400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:247494000-247496400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:247494000-247496600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:247494000-247496600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:247494200-247495000	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr1:247494200-247495000	Active TSS	Stomach Mucosa	stomach
20	chr1:247494200-247495600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:247494200-247495600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:247494200-247495600	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:247494200-247495600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:247494200-247495600	Active TSS	GM12878-XiMat	blood
25	chr1:247494200-247495600	Active TSS	HMEC	breast
26	chr1:247494200-247495800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:247494200-247495800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr1:247494200-247495800	Active TSS	Brain Angular Gyrus	brain
29	chr1:247494200-247495800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:247494200-247495800	Active TSS	Brain Substantia Nigra	brain
31	chr1:247494200-247495800	Active TSS	Fetal Intestine Large	intestine
32	chr1:247494200-247495800	Active TSS	Fetal Lung	lung
33	chr1:247494200-247495800	Active TSS	Fetal Stomach	stomach
34	chr1:247494200-247495800	Active TSS	Fetal Thymus	thymus
35	chr1:247494200-247495800	Active TSS	Psoas Muscle	Psoas
36	chr1:247494200-247495800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr1:247494200-247495800	Active TSS	Thymus	Thymus
38	chr1:247494200-247495800	Active TSS	Hela-S3	cervix
39	chr1:247494200-247495800	Active TSS	HUVEC	blood vessel
40	chr1:247494200-247495800	Active TSS	K562	blood
41	chr1:247494200-247495800	Active TSS	NHDF-Ad	bronchial
42	chr1:247494200-247495800	Active TSS	NHEK	skin
43	chr1:247494200-247496000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:247494200-247496000	Active TSS	Brain Anterior Caudate	brain
45	chr1:247494200-247496000	Active TSS	Fetal Brain Female	brain
46	chr1:247494200-247496000	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:247494200-247496200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:247494200-247496200	Active TSS	Aorta	Aorta
49	chr1:247494200-247496200	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:247494200-247496200	Active TSS	Colon Smooth Muscle	Colon

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