Variant report

Variant	rs8189250
Chromosome Location	chr11:50778912-50778913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11819790	0.95[AFR][1000 genomes]
rs11824233	0.84[EUR][1000 genomes]
rs11824245	0.95[EUR][1000 genomes]
rs11827612	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs55672857	0.95[EUR][1000 genomes]
rs56052831	0.89[EUR][1000 genomes]
rs56281004	0.89[EUR][1000 genomes]
rs61917341	0.92[EUR][1000 genomes]
rs61917342	0.87[EUR][1000 genomes]
rs61918061	0.90[EUR][1000 genomes]
rs61918115	0.92[EUR][1000 genomes]
rs61918121	0.95[EUR][1000 genomes]
rs61918122	0.95[EUR][1000 genomes]
rs61918123	0.89[EUR][1000 genomes]
rs61920064	0.87[AFR][1000 genomes]
rs8188863	0.81[EUR][1000 genomes]
rs8189021	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8189079	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8189278	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897507	chr11:50121285-51093950	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1040407	chr11:50121285-51095992	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2760206	chr11:50203494-51096372	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv897513	chr11:50245252-51093950	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897518	chr11:50297005-51093950	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1048803	chr11:50299098-51238712	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv897523	chr11:50304124-51093950	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv897530	chr11:50325741-51093950	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1049866	chr11:50343830-51176731	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1048298	chr11:50343830-51238712	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1038456	chr11:50343830-51328785	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1037858	chr11:50343830-51337246	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1037616	chr11:50357044-51337246	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1036511	chr11:50382437-51328785	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1047158	chr11:50382437-51337246	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv897533	chr11:50386833-51385894	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1053526	chr11:50398202-51268157	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1037231	chr11:50398202-51319588	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1051082	chr11:50398202-51337246	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1042370	chr11:50398202-51357233	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1050870	chr11:50398895-51267021	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1041367	chr11:50401840-51275347	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv1047448	chr11:50401840-51319588	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1045612	chr11:50401840-51328785	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv897535	chr11:50405139-51314773	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv1053443	chr11:50417549-51195051	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1049503	chr11:50417549-51216190	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1048618	chr11:50417549-51238712	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1041910	chr11:50417549-51275347	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv1035955	chr11:50417549-51282897	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv1044241	chr11:50417549-51319588	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv1043205	chr11:50417549-51337246	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	nsv1054781	chr11:50417549-51375310	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv1036702	chr11:50417549-51377342	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv1047636	chr11:50417549-51410459	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
36	nsv1045799	chr11:50430956-51205162	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1047689	chr11:50430956-51238712	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1039015	chr11:50430956-51275347	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	nsv1040310	chr11:50430956-51319588	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv1046211	chr11:50430956-51337246	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	nsv1039300	chr11:50430956-51377342	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv897538	chr11:50440270-51221009	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1812912	chr11:50440270-51372036	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv1046506	chr11:50446266-51357233	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv1037210	chr11:50458746-51228169	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1050452	chr11:50458746-51268157	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv1048640	chr11:50458746-51282897	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	nsv1037895	chr11:50458746-51319588	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	nsv1042119	chr11:50458746-51357233	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	nsv1037622	chr11:50458746-51377342	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50764000-50783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:50773800-50783400	Weak transcription	GM12878-XiMat	blood
3	chr11:50778400-50779200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr11:50778400-50783600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:50778600-50779400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr11:50778600-50779400	ZNF genes & repeats	HepG2	liver
7	chr11:50778600-50779600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr11:50778600-50783600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr11:50778600-50783800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:50778600-50783800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:50778800-50779000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:50778800-50779000	Flanking Active TSS	NH-A	brain
13	chr11:50778800-50779200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:50778800-50779200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:50778800-50779200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr11:50778800-50779200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
17	chr11:50778800-50779200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:50778800-50779200	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr11:50778800-50779200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:50778800-50779200	Active TSS	Psoas Muscle	Psoas
21	chr11:50778800-50779200	ZNF genes & repeats	HMEC	breast
22	chr11:50778800-50779200	ZNF genes & repeats	HSMMtube	muscle
23	chr11:50778800-50779200	ZNF genes & repeats	HUVEC	blood vessel
24	chr11:50778800-50779400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr11:50778800-50779400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:50778800-50779400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:50778800-50779400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr11:50778800-50779400	ZNF genes & repeats	Liver	Liver
29	chr11:50778800-50779400	ZNF genes & repeats	Colonic Mucosa	Colon
30	chr11:50778800-50779400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr11:50778800-50783600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links