Variant report

Variant	rs11195384
Chromosome Location	chr10:112703931-112703932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112677659..112680429-chr10:112703227..112706726,3	MCF-7	breast:
2	chr10:112678195..112680843-chr10:112702190..112705152,3	MCF-7	breast:
3	chr10:112703823..112706425-chr10:112708540..112711574,4	K562	blood:

Variant related genes	Relation type
ENSG00000214413	Chromatin interaction
ENSG00000108061	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11195357	0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11195378	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11195386	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11195389	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195392	0.94[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11195393	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12240492	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12244153	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12244273	0.86[AFR][1000 genomes]
rs12245003	0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12248431	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12248632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12248739	0.84[CHB][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12249521	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12249906	0.83[AFR][1000 genomes]
rs12255335	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12256152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12258923	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12266042	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12267661	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12268160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12268606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1327552	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13306146	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1341055	0.86[AMR][1000 genomes]
rs1410052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1538998	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128099	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128102	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17128270	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1800038	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs3750621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3750622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3763691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4917593	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4918610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[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]
rs4918620	0.81[ASN][1000 genomes]
rs55879225	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56005122	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56302131	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56350255	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72819772	0.82[ASN][1000 genomes]
rs9804245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112680600-112706800	Weak transcription	Esophagus	oesophagus
2	chr10:112680800-112704600	Weak transcription	Aorta	Aorta
3	chr10:112681000-112704600	Weak transcription	Right Ventricle	heart
4	chr10:112682000-112704600	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:112682000-112708400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr10:112682000-112732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:112684400-112712600	Weak transcription	HepG2	liver
8	chr10:112685200-112719200	Weak transcription	A549	lung
9	chr10:112689400-112704600	Weak transcription	Left Ventricle	heart
10	chr10:112689600-112714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:112690200-112707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr10:112692000-112722000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr10:112692400-112704000	Weak transcription	Adipose Nuclei	Adipose
14	chr10:112692400-112704600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr10:112692400-112705400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:112692400-112719000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:112692400-112719000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr10:112692400-112724000	Weak transcription	Stomach Mucosa	stomach
19	chr10:112692600-112704600	Weak transcription	Psoas Muscle	Psoas
20	chr10:112692600-112705000	Weak transcription	Fetal Heart	heart
21	chr10:112692600-112705000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:112692600-112706400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:112692600-112713600	Weak transcription	Hela-S3	cervix
24	chr10:112692600-112732400	Weak transcription	Fetal Intestine Large	intestine
25	chr10:112693000-112706800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr10:112693400-112704600	Weak transcription	NHEK	skin
27	chr10:112693600-112704600	Weak transcription	HMEC	breast
28	chr10:112693600-112706800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:112693600-112706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:112693600-112719200	Weak transcription	Small Intestine	intestine
31	chr10:112693600-112722000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:112695200-112709000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:112695400-112722400	Weak transcription	Colonic Mucosa	Colon
34	chr10:112697000-112704600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:112697000-112704600	Weak transcription	Spleen	Spleen
36	chr10:112697000-112706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:112697200-112706400	Weak transcription	Gastric	stomach
38	chr10:112697200-112706800	Weak transcription	Lung	lung
39	chr10:112697200-112720400	Weak transcription	Ovary	ovary
40	chr10:112697200-112740200	Weak transcription	Thymus	Thymus
41	chr10:112697200-112745400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:112697400-112704600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr10:112697800-112704800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:112698000-112724000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:112700400-112711000	Weak transcription	HSMMtube	muscle
46	chr10:112700600-112707600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr10:112700600-112712200	Weak transcription	Fetal Brain Male	brain
48	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
49	chr10:112700800-112704400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr10:112700800-112709800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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