Variant report

Variant	rs568218861
Chromosome Location	chr7:120497334-120497335
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	chr7:120496702-120498414	GM12892	blood:	n/a	n/a
2	SMC3	chr7:120496700-120498041	GM12878	blood:	n/a	chr7:120496890-120496900
3	CREB1	chr7:120496782-120497506	H1-hESC	embryonic stem cell:	n/a	chr7:120497289-120497302
4	CREB1	chr7:120497038-120497399	HepG2	liver:	n/a	chr7:120497289-120497302
5	MXI1	chr7:120495811-120497434	GM12878	blood:	n/a	n/a
6	MAX	chr7:120496902-120497415	ECC-1	luminal epithelium:	n/a	n/a
7	MTA3	chr7:120496705-120497435	GM12878	blood:	n/a	n/a
8	CTCF	chr7:120497200-120497350	Caco-2	colon:	n/a	n/a
9	CTCF	chr7:120497200-120497350	HEK293	kidney:	n/a	n/a
10	E2F6	chr7:120496665-120497446	H1-hESC	embryonic stem cell:	n/a	chr7:120496676-120496687 chr7:120496676-120496683 chr7:120496675-120496683 chr7:120496893-120496902 chr7:120496893-120496905 chr7:120496673-120496690
11	POLR2A	chr7:120496612-120497391	GM12892	blood:	n/a	n/a
12	CTCF	chr7:120497220-120497370	GM12865	blood:	n/a	n/a
13	HA-E2F1	chr7:120497163-120498025	Hela-S3	cervix:	n/a	chr7:120497755-120497765 chr7:120497812-120497822 chr7:120497724-120497733 chr7:120497620-120497629
14	BCL11A	chr7:120497061-120497377	GM12878	blood:	n/a	chr7:120497166-120497175 chr7:120497285-120497294
15	RCOR1	chr7:120496763-120498408	K562	blood:	n/a	n/a
16	ZNF143	chr7:120496669-120498419	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:120496939-120497429	GM12892	blood:	n/a	n/a
18	MAX	chr7:120497019-120497440	HepG2	liver:	n/a	n/a
19	MAZ	chr7:120497188-120497388	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr7:120496645-120498422	A549	lung:	n/a	chr7:120496887-120496900 chr7:120497812-120497825 chr7:120497726-120497739 chr7:120497091-120497099 chr7:120496884-120496902 chr7:120496964-120496977
21	POU2F2	chr7:120496563-120497456	GM12878	blood:	n/a	chr7:120496650-120496665 chr7:120496890-120496902
22	RAD21	chr7:120496618-120497908	GM12878	blood:	n/a	chr7:120497805-120497817 chr7:120496890-120496900 chr7:120496888-120496901 chr7:120497274-120497286
23	BCL11A	chr7:120497139-120497351	GM12878	blood:	n/a	chr7:120497166-120497175 chr7:120497285-120497294
24	MAX	chr7:120496843-120497451	A549	lung:	n/a	n/a
25	TAF1	chr7:120497051-120497391	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr7:120497130-120497395	MCF-7	breast:	n/a	n/a
27	BACH1	chr7:120496830-120497354	H1-hESC	embryonic stem cell:	n/a	n/a
28	HMGN3	chr7:120496840-120498561	K562	blood:	n/a	n/a
29	E2F6	chr7:120496759-120497458	H1-hESC	embryonic stem cell:	n/a	chr7:120496893-120496902 chr7:120496893-120496905
30	CTCF	chr7:120496690-120498455	GM12878	blood:	n/a	chr7:120496887-120496900 chr7:120497812-120497825 chr7:120497726-120497739 chr7:120497091-120497099 chr7:120496884-120496902 chr7:120496964-120496977
31	RCOR1	chr7:120496645-120497359	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:120496077-120498566	GM12878	blood:	n/a	n/a
33	CTCF	chr7:120497220-120497370	GM12871	blood:	n/a	n/a
34	ATF2	chr7:120496627-120497370	GM12878	blood:	n/a	n/a
35	SIN3A	chr7:120496824-120497382	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:120497109-120498678	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:120496147-120498481	GM12878	blood:	n/a	n/a
38	CBX3	chr7:120497001-120497445	K562	blood:	n/a	n/a
39	ZNF263	chr7:120496423-120497356	HEK293-T-REx	kidney:	n/a	chr7:120496892-120496913 chr7:120496845-120496866
40	EBF1	chr7:120496086-120498448	GM12878	blood:	n/a	chr7:120497153-120497163 chr7:120496862-120496873
41	CTCF	chr7:120497260-120497410	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr7:120497240-120497390	GM12872	blood:	n/a	n/a
43	MAZ	chr7:120496803-120498378	K562	blood:	n/a	chr7:120498017-120498027 chr7:120497893-120497902
44	CTCF	chr7:120497240-120497390	GM12867	blood:	n/a	n/a
45	TCF12	chr7:120496671-120497385	GM12878	blood:	n/a	n/a
46	CTCF	chr7:120497220-120497370	SAEC	small airway:	n/a	n/a
47	CTCF	chr7:120497200-120497362	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr7:120497124-120497423	K562	blood:	n/a	n/a
49	CTCF	chr7:120497200-120497350	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr7:120497200-120497350	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:3072484..3075327-chr7:120496877..120499119,2	MCF-7	breast:
2	chr7:120495769..120499665-chr7:120588624..120592417,7	MCF-7	breast:
3	chr7:120494775..120497431-chr7:120590834..120592743,2	K562	blood:

Variant related genes	Relation type
TSPAN12	TF binding region
ENSG00000131652	Chromatin interaction
ENSG00000071243	Chromatin interaction
ENSG00000103145	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3438279	chr7:120496341-120498889	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120494400-120498200	Active TSS	GM12878-XiMat	blood
2	chr7:120495800-120498600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:120495800-120498600	Active TSS	Left Ventricle	heart
4	chr7:120496000-120499000	Active TSS	Fetal Kidney	kidney
5	chr7:120496200-120498800	Active TSS	Aorta	Aorta
6	chr7:120496200-120498800	Active TSS	Colon Smooth Muscle	Colon
7	chr7:120496200-120499000	Active TSS	Right Ventricle	heart
8	chr7:120496400-120498600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:120496400-120498600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:120496400-120498800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:120496400-120498800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:120496400-120498800	Active TSS	Stomach Smooth Muscle	stomach
13	chr7:120496600-120497400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:120496600-120497400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
15	chr7:120496600-120497400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
16	chr7:120496600-120497400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:120496600-120497400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:120496600-120497400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:120496600-120497400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:120496600-120497400	Flanking Active TSS	Liver	Liver
21	chr7:120496600-120497400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:120496600-120498400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:120496600-120498400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:120496600-120498400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:120496600-120498400	Active TSS	Lung	lung
26	chr7:120496600-120498600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:120496600-120498600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:120496600-120498600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:120496600-120498600	Active TSS	Pancreas	Pancrea
30	chr7:120496600-120498600	Active TSS	Hela-S3	cervix
31	chr7:120496600-120498600	Active TSS	HSMM	muscle
32	chr7:120496600-120498800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:120496600-120498800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr7:120496600-120498800	Active TSS	Brain Anterior Caudate	brain
35	chr7:120496600-120498800	Active TSS	Fetal Heart	heart
36	chr7:120496600-120498800	Active TSS	HSMMtube	muscle
37	chr7:120496600-120499000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:120496800-120497400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:120496800-120497400	Flanking Active TSS	Placenta	Placenta
45	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
46	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr7:120496800-120497400	Flanking Bivalent TSS/Enh	HMEC	breast
48	chr7:120496800-120497400	Flanking Active TSS	K562	blood
49	chr7:120496800-120498200	Active TSS	Colonic Mucosa	Colon
50	chr7:120496800-120498400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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