Variant report

Variant	rs377309478
Chromosome Location	chr7:96631435-96631436
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	SP1	chr7:96631119-96631646	H1-hESC	embryonic stem cell:	n/a	chr7:96631400-96631414
2	TCF12	chr7:96631037-96631620	H1-hESC	embryonic stem cell:	n/a	chr7:96631078-96631087
3	ZNF143	chr7:96631084-96631742	H1-hESC	embryonic stem cell:	n/a	chr7:96631486-96631496 chr7:96631487-96631497
4	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
5	HDAC2	chr7:96631266-96631546	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr7:96631293-96631561	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr7:96631262-96632899	H1-neurons	neurons:	n/a	n/a
8	SUZ12	chr7:96630535-96633649	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr7:96631319-96633614	NT2-D1	testis:	n/a	n/a
10	SP1	chr7:96630931-96631732	H1-hESC	embryonic stem cell:	n/a	chr7:96631400-96631414
11	HDAC2	chr7:96631100-96631625	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr7:96631387-96631504	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr7:96631241-96631977	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr7:96631025-96633671	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
16	REST	chr7:96630994-96633107	H1-neurons	neurons:	n/a	n/a
17	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
18	TBP	chr7:96631161-96631718	H1-hESC	embryonic stem cell:	n/a	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

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:24 , 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	chr7:96629800-96631600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr7:96630000-96631600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:96630000-96632000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr7:96630000-96632800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
12	chr7:96630200-96632000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:96630400-96631600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr7:96630600-96631800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:96630600-96632200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:96630600-96632600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:96631000-96632000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
18	chr7:96631000-96632000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr7:96631200-96631600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr7:96631200-96634200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr7:96631400-96631600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr7:96631400-96631800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr7:96631400-96632000	Flanking Bivalent TSS/Enh	Placenta	Placenta
24	chr7:96631400-96632400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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