Variant report

Variant	rs6971633
Chromosome Location	chr7:70241056-70241057
allele	C/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	GATA3	chr7:70240514-70241369	SK-N-SH	brain:	n/a	chr7:70240568-70240589
2	POLR2A	chr7:70240770-70241108	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:70240614-70241210	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:70240849-70241106	GM12878	blood:	n/a	n/a
5	PBX3	chr7:70240632-70241163	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:70240702-70241462	H1-neurons	neurons:	n/a	n/a
7	RAD21	chr7:70240563-70241067	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr7:70240659-70241265	SK-N-SH_RA	brain:	n/a	chr7:70241045-70241052
9	TCF12	chr7:70240522-70241291	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr7:70240596-70241339	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr7:70240609-70241265	SK-N-SH	brain:	n/a	n/a
12	EP300	chr7:70240585-70241234	SK-N-SH_RA	brain:	n/a	chr7:70241045-70241052
13	NFIC	chr7:70240576-70241218	SK-N-SH	brain:	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	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10264980	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[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];0.84[AMR][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	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817575	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6460557	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460559	0.80[ASN][1000 genomes]
rs6948548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6959590	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs6959597	0.86[JPT][hapmap]
rs7781211	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	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9886083	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9886273	0.84[AMR][1000 genomes];0.84[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	chr7:70227600-70241400	Strong transcription	Dnd41	blood
7	chr7:70228000-70249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:70228400-70250000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70228400-70257400	Weak transcription	Right Atrium	heart
10	chr7:70228800-70241600	Weak transcription	NHDF-Ad	bronchial
11	chr7:70229400-70259600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr7:70229400-70259600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr7:70229600-70241600	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:70229600-70242200	Weak transcription	Small Intestine	intestine
15	chr7:70229800-70241200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:70230000-70241200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:70230200-70254000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:70230200-70257400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr7:70230400-70242400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:70230600-70241800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:70230600-70250000	Weak transcription	Right Ventricle	heart
22	chr7:70231000-70250000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:70231400-70246400	Strong transcription	Fetal Intestine Large	intestine
24	chr7:70231600-70250000	Weak transcription	NHLF	lung
25	chr7:70231800-70241200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:70231800-70241200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:70231800-70241600	Weak transcription	Spleen	Spleen
28	chr7:70231800-70244000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:70232000-70241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:70232000-70241800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:70232000-70241800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:70232000-70244200	Weak transcription	Gastric	stomach
33	chr7:70232000-70246400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:70232000-70250000	Weak transcription	Pancreas	Pancrea
35	chr7:70232000-70250000	Weak transcription	HMEC	breast
36	chr7:70233400-70241200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:70233400-70242000	Weak transcription	Osteobl	bone
38	chr7:70233400-70246800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:70233400-70250200	Weak transcription	Colonic Mucosa	Colon
40	chr7:70234600-70259600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:70235200-70258200	Strong transcription	HSMMtube	muscle
42	chr7:70236400-70242600	Strong transcription	NHEK	skin
43	chr7:70236400-70245000	Strong transcription	Fetal Lung	lung
44	chr7:70236400-70247000	Strong transcription	Fetal Stomach	stomach
45	chr7:70236400-70250000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:70236400-70257000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:70236800-70243200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:70236800-70258200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:70237200-70246400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:70237400-70242000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links