Variant report

Variant	rs12779919
Chromosome Location	chr10:27069490-27069491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27068463..27071008-chr10:27149449..27152029,3	K562	blood:
2	chr10:27064202..27066612-chr10:27068536..27071634,3	K562	blood:
3	chr10:27063322..27065877-chr10:27068617..27071382,2	K562	blood:
4	chr10:27067079..27070597-chr10:27072640..27074844,4	K562	blood:
5	chr10:27054901..27057514-chr10:27069095..27071711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136754	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12413383	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12774231	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12776877	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12780703	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16927334	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17669895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17747961	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17748178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2094150	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2182294	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2182295	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35175791	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35531360	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3802614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5010875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5025734	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67940790	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7091364	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7092571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092950	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7094825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7096584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7920164	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv933544	chr10:27005220-27111998	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv831812	chr10:27061506-27234267	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv971858	chr10:27066006-27157708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv6132	chr10:27066081-27075522	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 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	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:27021600-27069600	Weak transcription	Esophagus	oesophagus
3	chr10:27023400-27070000	Weak transcription	Pancreas	Pancrea
4	chr10:27025600-27069600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:27025800-27070800	Weak transcription	Aorta	Aorta
6	chr10:27026000-27069600	Weak transcription	Brain Angular Gyrus	brain
7	chr10:27027800-27069600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:27028400-27069800	Weak transcription	NHLF	lung
9	chr10:27029800-27069600	Weak transcription	HSMMtube	muscle
10	chr10:27032000-27069600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:27032400-27069600	Weak transcription	Lung	lung
12	chr10:27032600-27069800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:27034000-27069600	Weak transcription	Ovary	ovary
14	chr10:27034000-27069800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:27034400-27069600	Weak transcription	Right Ventricle	heart
16	chr10:27044800-27069600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:27044800-27070400	Weak transcription	HUVEC	blood vessel
18	chr10:27044800-27082000	Weak transcription	Fetal Lung	lung
19	chr10:27051400-27082000	Weak transcription	Fetal Stomach	stomach
20	chr10:27055600-27070200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:27057200-27069600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:27057800-27072000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:27058000-27072200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:27058000-27079200	Weak transcription	Dnd41	blood
25	chr10:27059400-27069800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:27063000-27069800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:27063000-27069800	Weak transcription	Osteobl	bone
28	chr10:27064600-27074200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr10:27065400-27069600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:27065600-27069600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:27065600-27069600	Weak transcription	NH-A	brain
32	chr10:27066000-27069600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:27066200-27074600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:27066400-27074000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr10:27066400-27074600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:27066400-27075200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr10:27066600-27070600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:27066600-27071200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr10:27066800-27073400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:27067200-27073000	Enhancers	Primary B cells from peripheral blood	blood
41	chr10:27067400-27069600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:27067400-27070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr10:27067600-27072200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:27067800-27070400	Enhancers	Fetal Intestine Large	intestine
45	chr10:27067800-27071000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr10:27067800-27071200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:27067800-27071200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr10:27067800-27071400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr10:27068000-27069600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr10:27068000-27070600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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