Variant report

Variant	rs10498551
Chromosome Location	chr14:81256954-81256955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81252167..81254164-chr14:81256810..81258338,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10129919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10132871	0.90[JPT][hapmap]
rs10498552	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11159475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[TSI][hapmap]
rs12147744	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12586162	1.00[CEU][hapmap]
rs12586908	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12587367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12587646	0.85[AMR][1000 genomes]
rs12587844	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs12587883	0.90[JPT][hapmap]
rs12588075	0.80[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap]
rs12588311	0.81[CHB][hapmap]
rs12588374	0.81[CHB][hapmap]
rs12589266	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs12589935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[TSI][hapmap]
rs12590477	0.90[CHB][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs12590579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12590682	0.84[JPT][hapmap]
rs12880008	0.80[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12882027	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12884630	0.80[CEU][hapmap];0.83[JPT][hapmap]
rs12885049	0.80[CEU][hapmap];0.85[JPT][hapmap]
rs12885089	0.86[CHB][hapmap]
rs12885819	0.80[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs12892149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12892368	0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes]
rs1458992	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs1470639	0.86[CHB][hapmap]
rs17111034	0.81[CHB][hapmap]
rs17111035	0.81[CHB][hapmap]
rs17111078	0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes]
rs17111093	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17111143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs17111149	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17111151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17111165	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs17111167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2021815	1.00[CEU][hapmap]
rs2195101	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs2371414	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2371417	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap]
rs2371461	0.81[JPT][hapmap]
rs2840052	0.85[JPT][hapmap];0.85[AMR][1000 genomes]
rs327433	0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs34052204	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35112141	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35749780	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35842427	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3742720	0.90[JPT][hapmap]
rs3861639	0.80[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs61979421	0.85[AMR][1000 genomes]
rs61979422	0.85[AMR][1000 genomes]
rs61979424	0.85[AMR][1000 genomes]
rs66586819	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs67330037	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68145550	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7149702	0.81[JPT][hapmap]

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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
5	chr14:81227000-81260800	Weak transcription	NH-A	brain
6	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
10	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
11	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:81239200-81258800	Weak transcription	Adipose Nuclei	Adipose
13	chr14:81239400-81257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:81239400-81260200	Weak transcription	NHEK	skin
15	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:81242200-81261000	Weak transcription	Liver	Liver
18	chr14:81243800-81259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:81246200-81259000	Weak transcription	Lung	lung
21	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:81248600-81258400	Weak transcription	HSMM	muscle
23	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
25	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
26	chr14:81249400-81258600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:81250200-81259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:81250400-81260800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:81251400-81261200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:81251600-81258400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:81251600-81259000	Weak transcription	Left Ventricle	heart
37	chr14:81251600-81259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:81251600-81259200	Weak transcription	Aorta	Aorta
39	chr14:81251600-81260600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:81251600-81261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:81251800-81257600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr14:81251800-81257800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:81251800-81258200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:81251800-81259000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:81251800-81261000	Weak transcription	Ovary	ovary
46	chr14:81251800-81263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:81251800-81282600	Weak transcription	A549	lung
48	chr14:81252200-81268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:81253400-81261400	Strong transcription	Dnd41	blood
50	chr14:81253800-81258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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