Variant report

Variant	rs17692264
Chromosome Location	chr7:27864500-27864501
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	E2F4	chr7:27864484-27864691	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27856504..27859420-chr7:27862843..27864597,2	K562	blood:

Variant related genes	Relation type
TAX1BP1	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10228505	0.94[ASN][1000 genomes]
rs10228576	0.91[ASN][1000 genomes]
rs10245536	0.94[ASN][1000 genomes]
rs10281008	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10486556	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10486562	0.94[ASN][1000 genomes]
rs10951178	0.85[EUR][1000 genomes]
rs10951180	0.90[EUR][1000 genomes]
rs10951181	0.90[EUR][1000 genomes]
rs11761430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761467	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763610	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763861	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765837	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768570	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769157	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984239	0.94[ASN][1000 genomes]
rs17150567	0.94[ASN][1000 genomes]
rs17155691	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17155744	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17155797	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155802	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611272	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17684444	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17692895	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237344	0.90[EUR][1000 genomes]
rs2285929	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28432782	0.94[ASN][1000 genomes]
rs28693893	0.94[ASN][1000 genomes]
rs28805873	0.94[ASN][1000 genomes]
rs56172733	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58979783	0.94[ASN][1000 genomes]
rs61179177	0.94[ASN][1000 genomes]
rs61446104	0.94[ASN][1000 genomes]
rs62449628	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62449630	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62449641	0.85[EUR][1000 genomes]
rs62451066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451069	0.90[EUR][1000 genomes]
rs62451070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62451071	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62451072	0.94[ASN][1000 genomes]
rs62451074	0.94[ASN][1000 genomes]
rs62451078	0.94[ASN][1000 genomes]
rs62454809	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979972	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73075305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73075333	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73078729	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73078746	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73078762	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs739900	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797888	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
5	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
6	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
7	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
11	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
12	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:27835200-27878200	Weak transcription	Gastric	stomach
14	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
15	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
18	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix
19	chr7:27842400-27877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:27843600-27877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:27848400-27871600	Weak transcription	HMEC	breast
23	chr7:27848400-27873400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:27848600-27868200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:27848600-27871000	Weak transcription	K562	blood
26	chr7:27849200-27873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:27853000-27868800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:27854200-27882200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:27856000-27882200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:27856600-27866000	Weak transcription	Fetal Intestine Small	intestine
32	chr7:27856600-27874000	Weak transcription	Fetal Stomach	stomach
33	chr7:27856800-27865600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:27856800-27867400	Weak transcription	Brain Anterior Caudate	brain
35	chr7:27856800-27868200	Weak transcription	Lung	lung
36	chr7:27856800-27871800	Weak transcription	NH-A	brain
37	chr7:27856800-27873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:27856800-27874000	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:27856800-27874200	Weak transcription	GM12878-XiMat	blood
40	chr7:27857000-27867600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:27857200-27875600	Weak transcription	NHEK	skin
42	chr7:27857200-27877800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:27857800-27871200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:27858000-27866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:27858000-27868200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:27858200-27865600	Weak transcription	Ovary	ovary
47	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
48	chr7:27858400-27866000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:27858400-27871200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:27858400-27873400	Weak transcription	Colon Smooth Muscle	Colon

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