Variant report

Variant	rs574408760
Chromosome Location	chr7:96631690-96631691
allele	G/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	ZNF143	chr7:96631084-96631742	H1-hESC	embryonic stem cell:	n/a	chr7:96631486-96631496 chr7:96631487-96631497
2	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr7:96631262-96632899	H1-neurons	neurons:	n/a	n/a
4	SUZ12	chr7:96630535-96633649	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr7:96631319-96633614	NT2-D1	testis:	n/a	n/a
6	SP1	chr7:96630931-96631732	H1-hESC	embryonic stem cell:	n/a	chr7:96631400-96631414
7	BACH1	chr7:96631241-96631977	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr7:96631025-96633671	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
10	REST	chr7:96630994-96633107	H1-neurons	neurons:	n/a	n/a
11	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
12	TBP	chr7:96631161-96631718	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96631680-96631730	GM19239	blood:	n/a
2	chr7:96631680-96631730	AG09309	skin:	n/a
3	chr7:96631680-96631730	Hepatocyte	liver:	n/a
4	chr7:96631680-96631730	GM12878	blood:	n/a
5	chr7:96631680-96631730	A549	lung:	n/a
6	chr7:96631680-96631730	AG04449	skin:	fetal
7	chr7:96631680-96631730	H1-hESC	embryonic stem cell:	embryo
8	chr7:96631680-96631730	HEEpiC	esophagus:	n/a
9	chr7:96631680-96631730	NH-A	brain:	n/a
10	chr7:96631680-96631730	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:96631680-96631730	ECC-1	luminal epithelium:	n/a
12	chr7:96631680-96631730	NT2-D1	testis:	n/a
13	chr7:96631680-96631730	AG04450	lung:	fetal
14	chr7:96631680-96631730	SAEC	small airway:	n/a
15	chr7:96631680-96631730	T-47D	breast:	n/a
16	chr7:96631680-96631730	IMR90	lung:	fetal
17	chr7:96631680-96631730	HCT-116	colon:	n/a
18	chr7:96631680-96631730	AoSMC	blood vessel:	n/a
19	chr7:96631680-96631730	HepG2	liver:	n/a
20	chr7:96631680-96631730	ovcar-3	ovarian:	n/a
21	chr7:96631680-96631730	NB4	blood:	n/a
22	chr7:96631680-96631730	MCF-7	breast:	n/a
23	chr7:96631680-96631730	HRCEpiC	kidney:	n/a
24	chr7:96631680-96631730	Caco-2	colon:	n/a
25	chr7:96631680-96631730	NHDF-neo	bronchial:	n/a
26	chr7:96631680-96631730	CMK	blood:	n/a
27	chr7:96631680-96631730	LNCaP	prostate:	n/a
28	chr7:96631680-96631730	HL-60	blood:	n/a
29	chr7:96631680-96631730	U87	brain:	n/a
30	chr7:96631680-96631730	RPTEC	kidney:	n/a
31	chr7:96631680-96631730	SKMC	muscle:	n/a
32	chr7:96631680-96631730	K562	blood:	n/a
33	chr7:96631680-96631730	GM06990	blood:	n/a
34	chr7:96631680-96631730	SK-N-SH	brain:	n/a
35	chr7:96631680-96631730	Jurkat	blood:	n/a
36	chr7:96631680-96631730	BJ	skin:	n/a
37	chr7:96631680-96631730	HNPCEpiC	eye:	n/a
38	chr7:96631680-96631730	GM12892	blood:	n/a
39	chr7:96631680-96631730	HRPEpiC	eye:	n/a
40	chr7:96631680-96631730	NHBE	bronchial:	n/a
41	chr7:96631680-96631730	PrEC	prostate:	n/a
42	chr7:96631680-96631730	HMEC	breast:	n/a
43	chr7:96631680-96631730	AG10803	skin:	n/a
44	chr7:96631680-96631730	GM12891	blood:	n/a
45	chr7:96631680-96631730	SK-N-SH_RA	brain:	n/a
46	chr7:96631680-96631730	PANC-1	pancreas:	n/a
47	chr7:96631680-96631730	MCF10A-Er-Src	breast:	n/a
48	chr7:96631680-96631730	HUVEC	blood vessel:	n/a
49	chr7:96631680-96631730	HRE	kidney:	n/a
50	chr7:96631680-96631730	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96624402..96628038-chr7:96629326..96632472,4	K562	blood:

Variant related genes	Relation type
DLX6	TF binding region
DLX6	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv967466	chr7:96630712-96634026	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96625200-96631800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:96626000-96633800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:96626200-96633200	Weak transcription	Pancreas	Pancrea
5	chr7:96627400-96634800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
7	chr7:96628400-96634000	Weak transcription	HepG2	liver
8	chr7:96630000-96632000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr7:96630000-96632800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
10	chr7:96630200-96632000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:96630600-96631800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:96630600-96632200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:96630600-96632600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:96631000-96632000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr7:96631000-96632000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr7:96631200-96634200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr7:96631400-96631800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr7:96631400-96632000	Flanking Bivalent TSS/Enh	Placenta	Placenta
19	chr7:96631400-96632400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr7:96631600-96631800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:96631600-96631800	Bivalent Enhancer	Colon Smooth Muscle	Colon
22	chr7:96631600-96632000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr7:96631600-96632000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr7:96631600-96632000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr7:96631600-96632000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr7:96631600-96632200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:96631600-96633200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:96631600-96633800	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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