Variant report

Variant	rs1038523
Chromosome Location	chr14:81258799-81258800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10133034	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10135084	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10141970	0.88[JPT][hapmap]
rs10142753	0.87[JPT][hapmap]
rs1016699	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11625199	0.87[JPT][hapmap]
rs11627934	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1197467	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1197474	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12050151	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12050342	0.87[JPT][hapmap]
rs12050416	0.88[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs12433134	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12434318	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12437260	0.88[JPT][hapmap]
rs12896436	0.82[JPT][hapmap]
rs149626	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs150997	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs162171	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162172	0.81[EUR][1000 genomes]
rs162174	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs162178	0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs170595	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs170596	0.88[JPT][hapmap]
rs17111153	0.86[JPT][hapmap]
rs17111237	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17111246	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs17111256	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs17615020	0.87[JPT][hapmap]
rs1863766	0.87[JPT][hapmap]
rs2010847	0.88[JPT][hapmap]
rs2059719	0.81[JPT][hapmap]
rs2162547	0.82[JPT][hapmap]
rs2268451	0.80[CEU][hapmap]
rs228119	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs228122	0.87[JPT][hapmap]
rs2284722	0.81[JPT][hapmap]
rs2288347	0.87[JPT][hapmap]
rs2556607	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2556611	0.87[JPT][hapmap]
rs2619661	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28850656	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2888032	0.87[JPT][hapmap]
rs327423	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327424	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327425	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs327428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327434	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes]
rs327435	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs327440	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs327442	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs327443	0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs327446	0.94[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs327447	0.80[EUR][1000 genomes]
rs327451	0.96[CEU][hapmap]
rs327452	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs327454	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs327456	0.86[CHB][hapmap]
rs327457	0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs327459	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327460	0.89[AMR][1000 genomes]
rs327462	0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs327463	0.94[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327467	0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs327469	0.81[EUR][1000 genomes]
rs327470	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs327472	0.94[CHB][hapmap];0.82[EUR][1000 genomes]
rs327473	0.82[EUR][1000 genomes]
rs327476	0.82[EUR][1000 genomes]
rs328206	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs328212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs328213	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs328241	0.80[EUR][1000 genomes]
rs328258	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4899780	0.88[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs4903949	0.87[JPT][hapmap]
rs6574608	0.87[JPT][hapmap]
rs6574609	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs6574610	0.88[JPT][hapmap]
rs7140452	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs7156572	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7157845	0.88[JPT][hapmap]
rs7158936	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs722906	0.88[JPT][hapmap]
rs7493314	0.86[JPT][hapmap]
rs759919	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs768359	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs8008366	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8011273	0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8016507	0.87[JPT][hapmap]
rs9323694	1.00[CHB][hapmap];1.00[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:58 , 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	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
9	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
10	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:81239200-81258800	Weak transcription	Adipose Nuclei	Adipose
12	chr14:81239400-81260200	Weak transcription	NHEK	skin
13	chr14:81240800-81260800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:81242200-81261000	Weak transcription	Liver	Liver
16	chr14:81243800-81259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:81243800-81261200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:81246200-81259000	Weak transcription	Lung	lung
19	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:81249000-81260600	Weak transcription	HUVEC	blood vessel
22	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
23	chr14:81249600-81261200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:81249800-81261200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:81250200-81259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:81250400-81260800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:81251400-81261200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:81251600-81259000	Weak transcription	Left Ventricle	heart
32	chr14:81251600-81259200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:81251600-81259200	Weak transcription	Aorta	Aorta
34	chr14:81251600-81260600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:81251600-81261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:81251800-81259000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:81251800-81261000	Weak transcription	Ovary	ovary
38	chr14:81251800-81263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:81251800-81282600	Weak transcription	A549	lung
40	chr14:81252200-81268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:81253400-81261400	Strong transcription	Dnd41	blood
42	chr14:81255200-81258800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:81256400-81271000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:81257600-81259200	Weak transcription	Spleen	Spleen
45	chr14:81257600-81259600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:81257800-81259400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:81257800-81259400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:81257800-81259400	Strong transcription	Fetal Thymus	thymus
49	chr14:81257800-81259400	Strong transcription	Thymus	Thymus
50	chr14:81257800-81260600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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