Variant report

Variant	rs7781211
Chromosome Location	chr7:70241423-70241424
allele	A/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	POLR2A	chr7:70241384-70242361	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:70240702-70241462	H1-neurons	neurons:	n/a	n/a
3	EP300	chr7:70241420-70242191	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10228883	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10264980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10499822	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12698936	0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17763090	0.94[ASN][1000 genomes]
rs2049633	0.81[ASN][1000 genomes]
rs2293501	0.81[JPT][hapmap]
rs2293503	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2293504	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817575	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460559	0.80[ASN][1000 genomes]
rs6948548	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6959590	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs6959597	0.87[JPT][hapmap]
rs6971633	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9886083	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9886273	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9886351	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
10	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
11	nsv1022759	chr7:70236919-70292317	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70214800-70250000	Weak transcription	Psoas Muscle	Psoas
2	chr7:70218600-70241600	Weak transcription	Fetal Heart	heart
3	chr7:70222000-70258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:70226400-70254800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:70227400-70253000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:70228000-70249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:70228400-70250000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:70228400-70257400	Weak transcription	Right Atrium	heart
9	chr7:70228800-70241600	Weak transcription	NHDF-Ad	bronchial
10	chr7:70229400-70259600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr7:70229400-70259600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr7:70229600-70241600	Strong transcription	Fetal Muscle Leg	muscle
13	chr7:70229600-70242200	Weak transcription	Small Intestine	intestine
14	chr7:70230200-70254000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:70230200-70257400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr7:70230400-70242400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:70230600-70241800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:70230600-70250000	Weak transcription	Right Ventricle	heart
19	chr7:70231000-70250000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:70231400-70246400	Strong transcription	Fetal Intestine Large	intestine
21	chr7:70231600-70250000	Weak transcription	NHLF	lung
22	chr7:70231800-70241600	Weak transcription	Spleen	Spleen
23	chr7:70231800-70244000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:70232000-70241800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:70232000-70241800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:70232000-70244200	Weak transcription	Gastric	stomach
27	chr7:70232000-70246400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:70232000-70250000	Weak transcription	Pancreas	Pancrea
29	chr7:70232000-70250000	Weak transcription	HMEC	breast
30	chr7:70233400-70242000	Weak transcription	Osteobl	bone
31	chr7:70233400-70246800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:70233400-70250200	Weak transcription	Colonic Mucosa	Colon
33	chr7:70234600-70259600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:70235200-70258200	Strong transcription	HSMMtube	muscle
35	chr7:70236400-70242600	Strong transcription	NHEK	skin
36	chr7:70236400-70245000	Strong transcription	Fetal Lung	lung
37	chr7:70236400-70247000	Strong transcription	Fetal Stomach	stomach
38	chr7:70236400-70250000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:70236400-70257000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:70236800-70243200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:70236800-70258200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:70237200-70246400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:70237400-70242000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:70237800-70242000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:70237800-70242000	Enhancers	Fetal Brain Male	brain
46	chr7:70237800-70244400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:70237800-70249800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:70237800-70249800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:70238200-70241800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:70238200-70247200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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