Variant report

Variant	rs12241343
Chromosome Location	chr10:91095049-91095050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:91093291..91095702-chr10:91097071..91099553,2	MCF-7	breast:
2	chr10:91094086..91096049-chr10:91100539..91102838,2	MCF-7	breast:
3	chr10:91092012..91093700-chr10:91094311..91097149,2	K562	blood:

Variant related genes	Relation type
ENSG00000107798	Chromatin interaction
ENSG00000119917	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10159512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159516	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10159652	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159869	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1041540	0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs11203074	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203075	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203076	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203081	1.00[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203084	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203085	1.00[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11203087	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11203088	1.00[ASN][1000 genomes]
rs11203097	1.00[ASN][1000 genomes]
rs12242568	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12244506	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12244571	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12245627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249661	1.00[ASN][1000 genomes]
rs12249707	1.00[ASN][1000 genomes]
rs12250753	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12251895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12256980	0.91[AFR][1000 genomes]
rs12259713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12259768	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12261273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263989	1.00[ASN][1000 genomes]
rs12264051	1.00[ASN][1000 genomes]
rs12266581	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12267943	1.00[ASN][1000 genomes]
rs1332332	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332334	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1332336	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332337	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119593	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119665	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119672	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119790	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119791	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2151008	1.00[ASN][1000 genomes]
rs41284140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41284142	1.00[ASN][1000 genomes]
rs4378299	1.00[ASN][1000 genomes]
rs6586185	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586186	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586187	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6586189	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586191	1.00[CHD][hapmap];0.85[TSI][hapmap];1.00[ASN][1000 genomes]
rs7081163	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091558	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099668	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099681	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100115	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367441	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73367444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367447	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73367460	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73368528	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7898580	0.80[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7901862	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902096	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902109	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902380	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7904924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7906827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7907230	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7907341	1.00[CEU][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911396	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913002	0.85[TSI][hapmap]
rs7916398	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663337	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663529	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91088000-91099800	Weak transcription	Gastric	stomach
2	chr10:91090200-91107600	Weak transcription	Pancreas	Pancrea
3	chr10:91092600-91095600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:91092800-91095200	Enhancers	Spleen	Spleen
5	chr10:91092800-91095400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr10:91092800-91095400	Enhancers	Small Intestine	intestine
7	chr10:91092800-91095600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr10:91093000-91095200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr10:91093000-91095200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr10:91093200-91095600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:91093400-91095600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:91093400-91097200	Enhancers	Brain Substantia Nigra	brain
13	chr10:91093400-91097800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr10:91093400-91100200	Weak transcription	K562	blood
15	chr10:91093400-91100800	Weak transcription	Right Ventricle	heart
16	chr10:91093600-91096600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:91093800-91095400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:91093800-91097200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:91093800-91097400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr10:91093800-91099000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr10:91093800-91106000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:91093800-91106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr10:91094000-91095200	Weak transcription	Fetal Heart	heart
24	chr10:91094000-91095400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr10:91094000-91095400	Enhancers	Fetal Intestine Small	intestine
26	chr10:91094000-91095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:91094000-91095800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr10:91094000-91095800	Enhancers	Fetal Intestine Large	intestine
29	chr10:91094000-91096200	Weak transcription	Hela-S3	cervix
30	chr10:91094000-91097200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:91094000-91097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:91094000-91097200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:91094000-91097200	Enhancers	Brain Anterior Caudate	brain
34	chr10:91094000-91097200	Weak transcription	NH-A	brain
35	chr10:91094000-91097400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr10:91094000-91097400	Weak transcription	NHLF	lung
37	chr10:91094000-91098000	Weak transcription	HSMMtube	muscle
38	chr10:91094000-91098200	Weak transcription	HSMM	muscle
39	chr10:91094000-91098400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:91094000-91101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:91094000-91102000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:91094000-91102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:91094000-91103400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:91094000-91105400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr10:91094000-91110200	Weak transcription	Colonic Mucosa	Colon
46	chr10:91094000-91112000	Weak transcription	Esophagus	oesophagus
47	chr10:91094200-91095200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:91094200-91095200	Enhancers	Liver	Liver
49	chr10:91094200-91095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:91094200-91095400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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