Variant report

Variant	rs4948726
Chromosome Location	chr10:43955574-43955575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43889454..43895016-chr10:43953657..43957344,5	MCF-7	breast:
2	chr10:43899870..43905980-chr10:43953401..43957689,7	MCF-7	breast:
3	chr10:43949801..43952727-chr10:43954596..43956488,2	K562	blood:
4	chr10:43902834..43905177-chr10:43955557..43957736,3	MCF-7	breast:
5	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:

Variant related genes	Relation type
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10409	0.90[JPT][hapmap]
rs10793431	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs10899794	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs10899797	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10899798	0.81[AMR][1000 genomes]
rs10899799	0.81[AMR][1000 genomes]
rs10899803	0.90[JPT][hapmap]
rs10899807	0.90[JPT][hapmap]
rs1112959	0.84[JPT][hapmap]
rs11238526	0.83[ASN][1000 genomes]
rs11238532	0.90[JPT][hapmap]
rs11238536	0.90[JPT][hapmap]
rs11238553	0.90[JPT][hapmap]
rs1126487	0.86[JPT][hapmap]
rs1126709	0.87[ASN][1000 genomes]
rs12220230	0.90[JPT][hapmap]
rs12240317	0.84[JPT][hapmap]
rs12245391	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12250140	0.90[JPT][hapmap]
rs12257917	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12260474	0.84[JPT][hapmap]
rs13376803	0.89[JPT][hapmap]
rs1416226	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs2066043	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2066044	0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs2247860	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2247979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2247981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248332	0.82[AMR][1000 genomes]
rs2248335	0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2248469	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2250444	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];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252783	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2252785	0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs2252800	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2255967	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2259045	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2260200	0.83[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2261636	1.00[CEU][hapmap];0.94[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];0.93[ASN][1000 genomes]
rs2265886	0.83[CHB][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2265887	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265888	0.87[AFR][1000 genomes]
rs2265952	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2265953	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2265954	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2492404	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2492405	0.83[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2492407	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492408	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492409	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2492410	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492411	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2493648	0.83[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2819021	0.85[JPT][hapmap]
rs2819026	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2819032	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2819034	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2999276	0.81[AMR][1000 genomes]
rs2999286	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2999287	0.83[AMR][1000 genomes]
rs3000700	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3750890	0.85[JPT][hapmap]
rs4551711	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4559639	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4584528	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4597022	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes]
rs56059584	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61859002	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6421744	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7069214	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7070029	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7070769	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7088430	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7089290	0.92[AMR][1000 genomes]
rs7092599	0.81[AMR][1000 genomes]
rs7894374	0.81[AMR][1000 genomes]
rs7905676	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7914140	0.84[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs7920539	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs9422371	0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43951800-43957400	Weak transcription	Fetal Kidney	kidney
2	chr10:43952000-43956400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:43952000-43957000	Weak transcription	K562	blood
4	chr10:43952000-43957200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:43952000-43957600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr10:43952000-43957600	Weak transcription	Brain Anterior Caudate	brain
7	chr10:43952000-43957600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:43952000-43957600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:43952000-43957600	Weak transcription	Hela-S3	cervix
10	chr10:43952000-43960000	Weak transcription	Left Ventricle	heart
11	chr10:43952000-43972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:43952000-43973200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:43952000-43977200	Weak transcription	HSMMtube	muscle
14	chr10:43952200-43956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:43952200-43956800	Weak transcription	NHEK	skin
16	chr10:43952200-43957000	Weak transcription	Spleen	Spleen
17	chr10:43952200-43957200	Weak transcription	Fetal Intestine Small	intestine
18	chr10:43952200-43957400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:43952200-43957400	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:43952200-43957600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:43952200-43957600	Weak transcription	Adipose Nuclei	Adipose
22	chr10:43952200-43957600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr10:43952200-43957600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr10:43952200-43961600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:43952200-43967800	Weak transcription	Right Atrium	heart
26	chr10:43952200-43975200	Weak transcription	Fetal Stomach	stomach
27	chr10:43952400-43956800	Weak transcription	HepG2	liver
28	chr10:43952400-43957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:43952400-43976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:43952600-43957200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:43952600-43957200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:43952600-43957200	Weak transcription	Dnd41	blood
33	chr10:43952600-43957800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:43952600-43967400	Weak transcription	Fetal Muscle Leg	muscle
35	chr10:43952800-43957200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:43952800-43957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr10:43952800-43957200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:43952800-43957400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr10:43952800-43957400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr10:43952800-43957600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr10:43952800-43957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:43952800-43957600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:43953000-43957400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:43954400-43957400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr10:43954400-43957400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:43954400-43960400	Weak transcription	Primary T cells from cord blood	blood
47	chr10:43954600-43957600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:43954800-43959200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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