Variant report

Variant	rs1034759
Chromosome Location	chr7:96634345-96634346
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	REST	chr7:96633990-96635799	H1-neurons	neurons:	n/a	chr7:96635204-96635222 chr7:96634677-96634690
2	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr7:96634323-96637321	HepG2	liver:	n/a	n/a
4	MXI1	chr7:96633643-96636712	SK-N-SH	brain:	n/a	n/a
5	TAF1	chr7:96634199-96635841	H1-neurons	neurons:	n/a	n/a
6	MAZ	chr7:96634259-96634351	HepG2	liver:	n/a	n/a
7	HEY1	chr7:96634255-96634477	HepG2	liver:	n/a	n/a
8	RFX5	chr7:96633626-96636275	SK-N-SH	brain:	n/a	n/a
9	TAF1	chr7:96634079-96635082	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr7:96634213-96635048	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
12	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
13	POLR2A	chr7:96634318-96635159	HepG2	liver:	n/a	n/a
14	MAX	chr7:96634318-96635036	ECC-1	luminal epithelium:	n/a	chr7:96634981-96634991

Variant related genes	Relation type
DLX6	TF binding region
DLX6-AS1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1005169	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266441	1.00[JPT][hapmap]
rs1114319	1.00[ASN][1000 genomes]
rs1207733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1724297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs917046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96627400-96634800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr7:96632600-96634400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:96632800-96634400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
6	chr7:96633000-96634400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr7:96633000-96634400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr7:96633000-96634400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
9	chr7:96633000-96634400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
10	chr7:96633000-96634600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:96633000-96634800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:96633000-96635000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:96633200-96634400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:96633600-96634400	Weak transcription	Pancreas	Pancrea
15	chr7:96633600-96634600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
16	chr7:96633800-96634400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
17	chr7:96633800-96634400	Weak transcription	Spleen	Spleen
18	chr7:96633800-96634600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:96633800-96637000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:96634000-96634400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:96634000-96634400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr7:96634000-96634400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:96634000-96634400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:96634000-96634400	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr7:96634000-96634400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:96634000-96634400	Bivalent Enhancer	Adipose Nuclei	Adipose
27	chr7:96634000-96634400	Flanking Active TSS	HepG2	liver
28	chr7:96634000-96634600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:96634000-96634600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
30	chr7:96634000-96638200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:96634200-96634400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:96634200-96634400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
33	chr7:96634200-96634400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:96634200-96634400	Active TSS	Right Atrium	heart
35	chr7:96634200-96634400	Active TSS	Right Ventricle	heart
36	chr7:96634200-96634400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr7:96634200-96634400	Bivalent Enhancer	HMEC	breast
38	chr7:96634200-96634400	Bivalent/Poised TSS	NHEK	skin
39	chr7:96634200-96634600	Bivalent Enhancer	Esophagus	oesophagus
40	chr7:96634200-96634600	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr7:96634200-96634600	Enhancers	Ovary	ovary
42	chr7:96634200-96634600	Flanking Active TSS	Osteobl	bone
43	chr7:96634200-96634800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr7:96634200-96634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:96634200-96634800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr7:96634200-96634800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr7:96634200-96634800	Bivalent Enhancer	Fetal Brain Male	brain
48	chr7:96634200-96634800	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr7:96634200-96634800	Bivalent/Poised TSS	A549	lung
50	chr7:96634200-96635000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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