Variant report

Variant	rs2247981
Chromosome Location	chr10:43923616-43923617
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43922499..43924905-chr10:43932128..43934196,2	MCF-7	breast:
2	chr10:43901381..43904812-chr10:43920194..43925203,8	MCF-7	breast:
3	chr10:43923300..43926779-chr10:43929702..43934389,5	K562	blood:

Variant related genes	Relation type
ENSG00000243660	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10409	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs10793431	0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.99[MKK][hapmap];0.84[AMR][1000 genomes]
rs10899794	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10899795	0.83[GIH][hapmap]
rs10899797	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10899798	0.84[AMR][1000 genomes]
rs10899799	0.84[AMR][1000 genomes]
rs10899803	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs10899807	0.90[JPT][hapmap]
rs1112959	0.89[CHD][hapmap];0.84[JPT][hapmap]
rs11238526	0.90[ASN][1000 genomes]
rs11238532	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs11238536	0.90[JPT][hapmap]
rs11238553	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs1126487	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1126709	0.94[ASN][1000 genomes]
rs12220230	0.90[JPT][hapmap]
rs12240317	0.89[CHD][hapmap];0.84[JPT][hapmap]
rs12245391	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12250140	0.90[JPT][hapmap]
rs12257917	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12260474	0.89[CHD][hapmap];0.84[JPT][hapmap]
rs13376803	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs1416226	0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs17153606	0.88[TSI][hapmap]
rs2066043	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2066044	0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.87[AMR][1000 genomes]
rs2247860	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2247979	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs2248332	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2248335	0.83[CHB][hapmap];0.85[JPT][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2248469	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2248931	0.82[ASN][1000 genomes]
rs2250444	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252783	0.83[CHB][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.84[AMR][1000 genomes]
rs2252785	0.91[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.84[AMR][1000 genomes]
rs2252800	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2255967	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2259045	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2260200	0.89[ASW][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2261636	1.00[CEU][hapmap];0.94[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];0.96[ASN][1000 genomes]
rs2265886	0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.85[AMR][1000 genomes]
rs2265887	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265888	0.89[AFR][1000 genomes]
rs2265952	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265953	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2265954	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2460558	0.83[ASN][1000 genomes]
rs2492404	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2492405	0.89[ASW][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2492408	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2492409	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2492410	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2492411	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2493648	0.89[ASW][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2819021	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2819026	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2819032	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819034	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2946992	0.83[ASN][1000 genomes]
rs2999276	0.84[AMR][1000 genomes]
rs2999282	0.82[AMR][1000 genomes]
rs2999286	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999287	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3000700	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3750890	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs4551711	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4559639	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4584528	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4597022	0.83[CHB][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];0.84[AMR][1000 genomes]
rs4948726	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]
rs56059584	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60739384	0.83[ASN][1000 genomes]
rs61859002	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6421744	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7069214	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7070029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070769	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs7088430	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7089290	0.89[AMR][1000 genomes]
rs7092599	0.84[AMR][1000 genomes]
rs7894374	0.84[AMR][1000 genomes]
rs7905676	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7914140	0.83[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs7920539	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs9422371	0.83[CHB][hapmap];0.85[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
8	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43916800-43931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:43916800-43931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:43916800-43931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43917000-43931600	Weak transcription	Fetal Brain Female	brain
5	chr10:43917200-43930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:43917200-43930800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:43917200-43931600	Weak transcription	Brain Anterior Caudate	brain
8	chr10:43917400-43930400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr10:43917400-43930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:43917400-43930800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:43917400-43930800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:43917400-43930800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr10:43917400-43931600	Weak transcription	Brain Angular Gyrus	brain
14	chr10:43917600-43930800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:43917600-43930800	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:43917600-43931600	Weak transcription	Right Ventricle	heart
17	chr10:43918000-43928000	Weak transcription	Fetal Intestine Small	intestine
18	chr10:43919800-43926400	Weak transcription	K562	blood
19	chr10:43920000-43930400	Weak transcription	Liver	Liver
20	chr10:43920000-43930400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:43920200-43925200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr10:43920200-43931600	Weak transcription	Fetal Lung	lung
23	chr10:43921200-43923800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr10:43921600-43923800	Enhancers	Primary B cells from peripheral blood	blood
25	chr10:43921800-43926600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:43921800-43931200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr10:43922400-43923800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr10:43922800-43923800	Enhancers	Primary T cells from cord blood	blood
29	chr10:43922800-43930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:43922800-43930600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr10:43923400-43930400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr10:43923400-43931000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:43923600-43923800	Enhancers	Fetal Thymus	thymus
34	chr10:43923600-43927000	Weak transcription	Primary B cells from cord blood	blood
35	chr10:43923600-43928800	Weak transcription	Fetal Stomach	stomach
36	chr10:43923600-43931400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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