Variant report

Variant	rs12263331
Chromosome Location	chr10:98622171-98622172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98593714..98596338-chr10:98621792..98624067,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10437452	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11188937	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188939	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188940	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188947	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188954	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188955	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188956	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188959	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188967	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188971	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11188978	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12241405	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12241564	0.87[EUR][1000 genomes]
rs12242330	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243551	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244490	0.89[EUR][1000 genomes]
rs12246067	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12247344	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249381	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249427	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249891	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12252424	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12252435	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12256424	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12257413	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258355	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258469	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259265	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261278	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261881	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262784	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264014	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12265242	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266068	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12266185	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267926	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12268216	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12268272	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376965	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112175	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112190	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104785	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183449	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28439735	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505353	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28758432	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394767	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56867696	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57408003	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57501540	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57716318	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58270704	0.81[EUR][1000 genomes]
rs58376960	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59751908	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59938221	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59999388	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60576681	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61492214	1.00[EUR][1000 genomes]
rs6584101	0.89[EUR][1000 genomes]
rs7071211	0.89[EUR][1000 genomes]
rs7072273	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7073150	0.86[EUR][1000 genomes]
rs7082316	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082838	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7085822	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086875	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7090441	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7090690	0.89[EUR][1000 genomes]
rs74153734	0.89[EUR][1000 genomes]
rs7893144	0.83[ASN][1000 genomes]
rs7893325	0.86[EUR][1000 genomes]
rs7893564	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894138	0.93[EUR][1000 genomes]
rs7894418	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895914	0.86[EUR][1000 genomes]
rs7906294	0.93[EUR][1000 genomes]
rs7910221	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918085	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920238	0.89[EUR][1000 genomes]
rs7921193	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921216	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7921885	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv895910	chr10:98386483-98640994	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98593800-98624200	Weak transcription	Colonic Mucosa	Colon
2	chr10:98594200-98639400	Weak transcription	Thymus	Thymus
3	chr10:98600200-98624000	Weak transcription	Fetal Brain Male	brain
4	chr10:98604600-98623400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:98604800-98623600	Weak transcription	Fetal Brain Female	brain
6	chr10:98606200-98623200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr10:98606800-98623600	Weak transcription	Stomach Mucosa	stomach
8	chr10:98607000-98624000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:98610800-98632200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:98611000-98623200	Weak transcription	A549	lung
11	chr10:98611000-98649800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:98611000-98713000	Weak transcription	Aorta	Aorta
13	chr10:98611200-98623400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:98611200-98623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:98611200-98623600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:98611200-98640200	Weak transcription	Fetal Heart	heart
17	chr10:98612200-98623400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:98614000-98623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:98616400-98622200	Weak transcription	Lung	lung
20	chr10:98616400-98624200	Weak transcription	Ovary	ovary
21	chr10:98616600-98622400	Weak transcription	HUVEC	blood vessel
22	chr10:98616600-98629600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:98617200-98651600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr10:98617600-98622600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr10:98617600-98623600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:98617600-98624000	Weak transcription	Adipose Nuclei	Adipose
27	chr10:98617600-98624400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:98617600-98631600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr10:98617800-98622600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr10:98617800-98623200	Weak transcription	Liver	Liver
31	chr10:98617800-98623400	Weak transcription	HMEC	breast
32	chr10:98617800-98623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:98618000-98623400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:98618200-98622400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr10:98618200-98622400	Strong transcription	Primary T cells from cord blood	blood
36	chr10:98618200-98623400	Weak transcription	NHLF	lung
37	chr10:98618400-98622400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr10:98618400-98623200	Weak transcription	NHEK	skin
39	chr10:98618400-98623400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr10:98618400-98623400	Weak transcription	NHDF-Ad	bronchial
41	chr10:98618400-98623600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:98618400-98624200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr10:98618600-98622400	Strong transcription	Fetal Intestine Small	intestine
44	chr10:98618600-98622400	Strong transcription	Fetal Thymus	thymus
45	chr10:98618600-98623400	Weak transcription	Fetal Kidney	kidney
46	chr10:98618600-98623600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:98618600-98623600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:98618800-98622600	Strong transcription	HSMM	muscle
49	chr10:98618800-98622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:98618800-98623400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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