Variant report

Variant	rs547100298
Chromosome Location	chr7:64498529-64498530
allele	C/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	YY1	chr7:64498481-64499062	GM12878	blood:	n/a	chr7:64498603-64498612
2	RCOR1	chr7:64498345-64498928	K562	blood:	n/a	n/a
3	MAZ	chr7:64498196-64498950	Hela-S3	cervix:	n/a	chr7:64498601-64498611 chr7:64498304-64498314
4	IRF1	chr7:64498196-64498722	K562	blood:	n/a	chr7:64498602-64498616
5	POLR2A	chr7:64498199-64498967	GM15510	blood:	n/a	n/a
6	EP300	chr7:64498449-64498973	SK-N-SH	brain:	n/a	n/a
7	CEBPB	chr7:64498426-64498560	HepG2	liver:	n/a	n/a
8	CEBPB	chr7:64498354-64498681	IMR90	lung:	n/a	n/a
9	POLR2A	chr7:64498495-64499007	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr7:64498472-64499033	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr7:64498527-64499006	PFSK-1	brain:	n/a	n/a
12	ZNF143	chr7:64498222-64498796	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr7:64498340-64499062	PANC-1	pancreas:	n/a	n/a
14	YY1	chr7:64498417-64499278	SK-N-SH	brain:	n/a	chr7:64499266-64499277 chr7:64498603-64498612
15	POLR2A	chr7:64498329-64499368	GM18526	blood:	n/a	n/a
16	POLR2A	chr7:64498464-64499774	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr7:64498440-64499058	K562	blood:	n/a	chr7:64498603-64498612
18	POLR2A	chr7:64498476-64499098	A549	lung:	n/a	n/a
19	SRF	chr7:64498451-64498607	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:64498408-64499128	ProgFib	skin:	n/a	n/a
21	POLR2A	chr7:64498299-64498978	NB4	blood:	n/a	n/a
22	MAX	chr7:64498458-64499004	SK-N-SH	brain:	n/a	chr7:64498601-64498611
23	JUND	chr7:64498330-64498777	K562	blood:	n/a	n/a
24	TEAD4	chr7:64498118-64498534	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:64498482-64499066	HUVEC	blood vessel:	n/a	n/a
26	CREB1	chr7:64498311-64498913	A549	lung:	n/a	n/a
27	EGR1	chr7:64498425-64498843	GM12878	blood:	n/a	chr7:64498601-64498611 chr7:64498599-64498613 chr7:64498598-64498611 chr7:64498603-64498613
28	POLR2A	chr7:64498284-64499130	Gliobla	brain:	n/a	n/a
29	POLR2A	chr7:64498485-64499532	K562	blood:	n/a	n/a
30	POLR2A	chr7:64498492-64498959	HCT-116	colon:	n/a	n/a
31	POLR2A	chr7:64498490-64498964	U87	brain:	n/a	n/a
32	MYC	chr7:64498461-64499427	MCF-7	breast:	n/a	chr7:64498601-64498611
33	MAZ	chr7:64498201-64499554	K562	blood:	n/a	chr7:64498601-64498611 chr7:64498304-64498314
34	POLR2A	chr7:64498510-64499126	PFSK-1	brain:	n/a	n/a
35	EGR1	chr7:64498333-64498916	K562	blood:	n/a	chr7:64498601-64498611 chr7:64498599-64498613 chr7:64498598-64498611 chr7:64498603-64498613
36	NRF1	chr7:64498035-64498841	SK-N-SH	brain:	n/a	chr7:64498603-64498612
37	MYC	chr7:64498515-64498971	K562	blood:	n/a	chr7:64498601-64498611
38	EGR1	chr7:64498500-64498831	ECC-1	luminal epithelium:	n/a	chr7:64498601-64498611 chr7:64498599-64498613 chr7:64498598-64498611 chr7:64498603-64498613
39	TAF1	chr7:64498425-64499059	HepG2	liver:	n/a	n/a
40	PAX5	chr7:64498412-64498687	GM12892	blood:	n/a	n/a
41	POLR2A	chr7:64498479-64499023	K562	blood:	n/a	n/a
42	E2F4	chr7:64498365-64498706	MCF10A-Er-Src	breast:	n/a	chr7:64498603-64498612
43	NFYB	chr7:64498527-64498755	K562	blood:	n/a	n/a
44	MXI1	chr7:64498331-64498946	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:64498184-64499014	Raji	blood:	n/a	n/a
46	HCFC1	chr7:64498254-64498964	K562	blood:	n/a	n/a
47	GABPA	chr7:64498276-64498603	K562	blood:	n/a	n/a
48	REST	chr7:64498360-64499258	H1-neurons	neurons:	n/a	n/a
49	CEBPB	chr7:64498404-64498657	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:64498520-64499516	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:64467103..64469967-chr7:64496870..64499849,2	K562	blood:
2	chr7:64253690..64256534-chr7:64497237..64499995,2	K562	blood:
3	chr7:64465739..64467675-chr7:64497142..64500012,3	MCF-7	breast:
4	chr7:64465846..64468983-chr7:64497347..64500243,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239985	TF binding region
CCT6P3	TF binding region
ENSG00000152926	Chromatin interaction
ENSG00000213462	Chromatin interaction
ENSG00000197008	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv1034625	chr7:64456197-64850413	Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv1019089	chr7:64456197-64874187	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
17	nsv1023699	chr7:64456197-64942418	Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
19	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
20	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	esv34341	chr7:64478386-65012082	Bivalent/Poised TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
24	esv3393496	chr7:64497342-64499890	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	esv3398872	chr7:64497667-64499790	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv15917	chr7:64498240-64499881	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64493800-64498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:64496800-64498600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:64497000-64498600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:64497000-64498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:64498000-64498600	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:64498000-64498600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:64498000-64498800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:64498000-64499400	Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr7:64498000-64499400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:64498000-64499400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:64498000-64499400	Active TSS	HepG2	liver
12	chr7:64498000-64499600	Active TSS	Colon Smooth Muscle	Colon
13	chr7:64498000-64499800	Active TSS	Brain Angular Gyrus	brain
14	chr7:64498000-64499800	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:64498000-64500000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:64498000-64500000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:64498000-64500000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:64498000-64500000	Active TSS	Brain Anterior Caudate	brain
19	chr7:64498000-64500200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:64498000-64500200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:64498000-64500400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:64498000-64500400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr7:64498200-64498600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:64498200-64498600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr7:64498200-64498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:64498200-64498600	Enhancers	Gastric	stomach
27	chr7:64498200-64498600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:64498200-64498600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:64498200-64498600	Enhancers	Hela-S3	cervix
30	chr7:64498200-64498600	Enhancers	NH-A	brain
31	chr7:64498200-64498600	Enhancers	NHDF-Ad	bronchial
32	chr7:64498200-64499400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr7:64498200-64499400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:64498200-64499400	Active TSS	Brain Hippocampus Middle	brain
35	chr7:64498200-64499400	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:64498200-64499600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:64498200-64499600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:64498200-64499600	Active TSS	Brain Germinal Matrix	brain
39	chr7:64498200-64499600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:64498200-64499600	Active TSS	NHEK	skin
41	chr7:64498200-64499600	Active TSS	Osteobl	bone
42	chr7:64498200-64499800	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr7:64498200-64499800	Active TSS	Brain Substantia Nigra	brain
44	chr7:64498200-64499800	Active TSS	Fetal Muscle Leg	muscle
45	chr7:64498200-64499800	Active TSS	Left Ventricle	heart
46	chr7:64498200-64499800	Active TSS	Psoas Muscle	Psoas
47	chr7:64498200-64499800	Active TSS	HSMM	muscle
48	chr7:64498200-64500000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr7:64498200-64500000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:64498200-64500000	Active TSS	Fetal Brain Female	brain

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