Variant report

Variant	rs11249938
Chromosome Location	chr8:9544786-9544787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9543911..9545584-chr8:9545608..9547740,2	K562	blood:
2	chr8:9539321..9541643-chr8:9542322..9544841,2	K562	blood:
3	chr8:9544687..9547010-chr8:9559104..9561532,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10087166	0.94[CEU][hapmap]
rs10087749	0.84[EUR][1000 genomes]
rs10088037	0.84[EUR][1000 genomes]
rs10088039	0.83[EUR][1000 genomes]
rs10088401	0.84[EUR][1000 genomes]
rs10097438	0.83[EUR][1000 genomes]
rs10098758	0.93[CEU][hapmap]
rs10101953	0.94[CEU][hapmap]
rs10102030	0.94[CEU][hapmap]
rs10103426	0.94[CEU][hapmap]
rs10103752	0.84[EUR][1000 genomes]
rs10111980	0.94[CEU][hapmap]
rs10112600	0.83[EUR][1000 genomes]
rs10112821	0.84[EUR][1000 genomes]
rs10464998	0.93[EUR][1000 genomes]
rs10465002	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10503380	0.88[CEU][hapmap]
rs1055328	0.87[CEU][hapmap]
rs10794712	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10903314	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs10903315	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10903318	0.89[EUR][1000 genomes]
rs11249931	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11249941	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11249942	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11779335	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.92[EUR][1000 genomes]
rs11783635	0.92[EUR][1000 genomes]
rs11785927	0.92[EUR][1000 genomes]
rs11785987	0.92[EUR][1000 genomes]
rs11984585	0.94[CEU][hapmap]
rs11985349	1.00[CEU][hapmap]
rs11989409	0.85[EUR][1000 genomes]
rs11993506	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11994420	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs11995920	0.94[CEU][hapmap]
rs12335063	0.85[EUR][1000 genomes]
rs12541617	0.86[CEU][hapmap]
rs12543959	0.83[CEU][hapmap]
rs12544371	0.82[CEU][hapmap]
rs12545912	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12674762	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs12675511	0.94[CEU][hapmap]
rs12675893	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs12676827	0.93[EUR][1000 genomes]
rs12680098	0.84[EUR][1000 genomes]
rs12680578	0.86[EUR][1000 genomes]
rs12681719	0.94[CEU][hapmap]
rs12682247	0.83[EUR][1000 genomes]
rs13249683	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13252338	0.87[EUR][1000 genomes]
rs13262577	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs13263409	0.83[CEU][hapmap]
rs13269437	0.91[EUR][1000 genomes]
rs13270518	0.83[CEU][hapmap]
rs13271097	0.81[CEU][hapmap]
rs13273033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13276750	0.84[EUR][1000 genomes]
rs13276965	0.90[EUR][1000 genomes]
rs28561748	0.85[EUR][1000 genomes]
rs28695930	0.84[EUR][1000 genomes]
rs28716261	0.85[EUR][1000 genomes]
rs35159871	0.92[EUR][1000 genomes]
rs4240626	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs4240629	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4240631	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4240632	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4282575	0.84[EUR][1000 genomes]
rs4305907	0.93[EUR][1000 genomes]
rs4310210	0.83[EUR][1000 genomes]
rs4320547	0.80[EUR][1000 genomes]
rs4372006	0.82[EUR][1000 genomes]
rs4398920	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs4407883	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4418340	0.85[EUR][1000 genomes]
rs4419813	0.93[EUR][1000 genomes]
rs4464970	0.84[EUR][1000 genomes]
rs4483157	0.83[EUR][1000 genomes]
rs4493905	0.81[EUR][1000 genomes]
rs4510870	0.83[EUR][1000 genomes]
rs4535744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568626	0.84[EUR][1000 genomes]
rs4579533	0.85[EUR][1000 genomes]
rs4582568	0.81[EUR][1000 genomes]
rs4626603	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.92[EUR][1000 genomes]
rs4626604	0.92[EUR][1000 genomes]
rs4840431	0.85[EUR][1000 genomes]
rs4841174	0.94[CEU][hapmap]
rs4841179	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs4841182	0.85[EUR][1000 genomes]
rs4841183	0.85[EUR][1000 genomes]
rs4841197	0.94[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841202	0.93[EUR][1000 genomes]
rs4841206	0.93[EUR][1000 genomes]
rs4841209	0.93[EUR][1000 genomes]
rs4841210	0.93[EUR][1000 genomes]
rs4841211	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs4841212	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs55917145	0.84[EUR][1000 genomes]
rs6601331	0.94[CEU][hapmap]
rs6601332	0.94[CEU][hapmap]
rs6601333	0.94[CEU][hapmap]
rs6601334	1.00[CEU][hapmap]
rs6601339	0.80[EUR][1000 genomes]
rs6601348	0.93[EUR][1000 genomes]
rs6601361	0.92[EUR][1000 genomes]
rs6651495	0.84[EUR][1000 genomes]
rs6651496	0.84[EUR][1000 genomes]
rs6651501	0.83[EUR][1000 genomes]
rs6651502	0.84[EUR][1000 genomes]
rs67480155	0.84[EUR][1000 genomes]
rs6980831	0.94[CEU][hapmap]
rs6981831	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6983608	0.93[EUR][1000 genomes]
rs6983762	0.93[EUR][1000 genomes]
rs6986386	0.94[CEU][hapmap]
rs6986929	0.91[EUR][1000 genomes]
rs6987698	0.83[EUR][1000 genomes]
rs6990590	0.94[CEU][hapmap]
rs6990779	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994557	0.93[EUR][1000 genomes]
rs6995495	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6996976	0.85[EUR][1000 genomes]
rs7006785	0.92[EUR][1000 genomes]
rs7010270	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7015787	0.93[EUR][1000 genomes]
rs7015963	0.92[EUR][1000 genomes]
rs7016561	0.91[EUR][1000 genomes]
rs7016839	0.92[EUR][1000 genomes]
rs7461376	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7462054	0.93[EUR][1000 genomes]
rs7462055	0.93[EUR][1000 genomes]
rs7462102	0.84[EUR][1000 genomes]
rs7462115	0.91[EUR][1000 genomes]
rs7462910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.93[EUR][1000 genomes]
rs7464185	0.84[EUR][1000 genomes]
rs7464226	0.83[EUR][1000 genomes]
rs7465249	0.91[EUR][1000 genomes]
rs7812967	0.86[EUR][1000 genomes]
rs7814014	0.94[CEU][hapmap]
rs7817655	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822548	0.94[CEU][hapmap]
rs7822904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832096	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs7834823	0.94[CEU][hapmap]
rs7837815	0.93[EUR][1000 genomes]
rs7840706	0.83[CEU][hapmap]
rs7846140	0.94[CEU][hapmap]
rs9650638	1.00[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9504800-9549600	Weak transcription	Pancreas	Pancrea
2	chr8:9509400-9545000	Weak transcription	HSMM	muscle
3	chr8:9510400-9563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:9511000-9564200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:9511600-9554600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:9512400-9551400	Weak transcription	Dnd41	blood
7	chr8:9513200-9564200	Weak transcription	Ovary	ovary
8	chr8:9513200-9567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:9513400-9605400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:9513800-9563600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:9521000-9544800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:9522000-9545000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:9522400-9546000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:9523800-9545000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:9529600-9545000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:9529600-9545000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:9529600-9549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:9529600-9606400	Weak transcription	Esophagus	oesophagus
19	chr8:9530600-9549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:9530800-9549800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:9531200-9564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:9534800-9563600	Weak transcription	HepG2	liver
23	chr8:9535000-9544800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:9535000-9545400	Weak transcription	Liver	Liver
25	chr8:9535000-9564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:9535000-9608000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:9535400-9560800	Weak transcription	HMEC	breast
28	chr8:9535400-9563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:9536400-9563400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:9537200-9545000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:9537400-9549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:9537400-9563600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:9537600-9592400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:9537800-9545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:9538200-9545200	Weak transcription	Brain Angular Gyrus	brain
36	chr8:9538800-9545200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:9538800-9546000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:9539800-9549800	Weak transcription	Brain Germinal Matrix	brain
39	chr8:9540000-9565400	Weak transcription	Fetal Kidney	kidney
40	chr8:9541400-9592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:9541600-9563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:9542200-9546000	Strong transcription	Primary B cells from cord blood	blood
43	chr8:9542200-9606800	Weak transcription	Small Intestine	intestine
44	chr8:9542400-9553400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:9543000-9592200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:9543200-9545000	Weak transcription	Fetal Thymus	thymus
47	chr8:9543400-9549400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:9543400-9606400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:9543600-9544800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:9543600-9545200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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