Variant report

Variant	rs2293507
Chromosome Location	chr7:70228020-70228021
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	POLR2A	chr7:70226672-70231239	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:70225557-70231872	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:70227666-70230807	GM12878	blood:	n/a	n/a
4	GATA3	chr7:70227729-70228133	SH-SY5Y	brain:	n/a	n/a
5	MXI1	chr7:70227653-70228235	SK-N-SH	brain:	n/a	n/a
6	EP300	chr7:70227738-70228024	SK-N-SH_RA	brain:	n/a	n/a
7	GATA2	chr7:70227673-70228158	SH-SY5Y	brain:	n/a	n/a
8	POLR2A	chr7:70227557-70228812	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr7:70226736-70231526	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70225764..70228069-chr7:70229252..70232083,2	K562	blood:

Variant related genes	Relation type
AUTS2	TF binding region
ENSG00000158321	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12698935	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17684191	1.00[JPT][hapmap]
rs1881010	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1881011	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1969498	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2141205	1.00[JPT][hapmap]
rs2293508	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34452361	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34590018	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958668	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9638591	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70202400-70230000	Weak transcription	Fetal Thymus	thymus
2	chr7:70207000-70230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:70214200-70230200	Weak transcription	NHEK	skin
4	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
5	chr7:70216200-70230400	Weak transcription	Pancreas	Pancrea
6	chr7:70216800-70231000	Weak transcription	HMEC	breast
7	chr7:70217000-70230400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:70217200-70229400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:70217200-70230200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:70218000-70228200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:70218000-70230400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:70218200-70231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:70218400-70230000	Weak transcription	NH-A	brain
14	chr7:70218400-70230600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:70218600-70230200	Weak transcription	HSMM	muscle
16	chr7:70218600-70230600	Weak transcription	HSMMtube	muscle
17	chr7:70218600-70241600	Weak transcription	Fetal Heart	heart
18	chr7:70218800-70228400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:70222000-70230400	Weak transcription	Aorta	Aorta
20	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:70222200-70229400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:70223200-70229800	Weak transcription	Thymus	Thymus
23	chr7:70223200-70238000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:70223400-70237400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:70223800-70230000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:70224400-70228200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:70224400-70229400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:70224600-70229000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:70224600-70231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:70225400-70232800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:70225600-70228600	Enhancers	Liver	Liver
32	chr7:70225800-70228400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:70226200-70230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:70226400-70254800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:70226600-70228600	Enhancers	Brain Hippocampus Middle	brain
36	chr7:70226800-70228800	Enhancers	Brain Substantia Nigra	brain
37	chr7:70226800-70231000	Weak transcription	Colonic Mucosa	Colon
38	chr7:70227000-70228200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:70227000-70230600	Weak transcription	NHLF	lung
40	chr7:70227200-70228200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:70227200-70228600	Enhancers	Brain Angular Gyrus	brain
42	chr7:70227200-70228800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr7:70227200-70228800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:70227200-70230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:70227400-70228400	Genic enhancers	H1 Cell Line	embryonic stem cell
46	chr7:70227400-70228400	Enhancers	Lung	lung
47	chr7:70227400-70228600	Enhancers	Brain Anterior Caudate	brain
48	chr7:70227400-70229400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:70227400-70229600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:70227400-70229600	Enhancers	Brain Cingulate Gyrus	brain

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