Variant report

Variant	rs7271250
Chromosome Location	chr20:25037093-25037094
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25034947..25037572-chr20:25052854..25054680,2	MCF-7	breast:
2	chr20:25033407..25037735-chr20:25037828..25040328,4	MCF-7	breast:
3	chr20:25027984..25032783-chr20:25034265..25037344,6	MCF-7	breast:
4	chr20:25024429..25027041-chr20:25035643..25038257,2	K562	blood:
5	chr20:25026036..25030944-chr20:25033529..25038477,7	MCF-7	breast:
6	chr20:24993232..24996113-chr20:25036389..25038769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154930	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11908037	0.86[AFR][1000 genomes]
rs56273742	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57218388	0.81[AMR][1000 genomes]
rs7261401	0.81[AMR][1000 genomes]
rs7268196	0.89[YRI][hapmap]
rs7270236	0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73348712	0.86[AFR][1000 genomes]
rs73906063	0.81[AMR][1000 genomes]
rs73906067	0.86[AFR][1000 genomes]
rs73906070	0.81[AMR][1000 genomes]
rs73906072	0.81[AMR][1000 genomes]
rs73906076	0.81[AMR][1000 genomes]
rs8114108	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8123929	0.88[AFR][1000 genomes];0.81[AMR][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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25020600-25037400	Enhancers	Psoas Muscle	Psoas
2	chr20:25028600-25037200	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr20:25028800-25037200	Enhancers	Aorta	Aorta
4	chr20:25029200-25037200	Enhancers	Fetal Muscle Trunk	muscle
5	chr20:25032000-25037600	Enhancers	Spleen	Spleen
6	chr20:25032200-25037400	Enhancers	Stomach Mucosa	stomach
7	chr20:25032400-25037200	Enhancers	Small Intestine	intestine
8	chr20:25032400-25037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:25032600-25037200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr20:25032600-25037200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr20:25033000-25037200	Enhancers	Fetal Thymus	thymus
12	chr20:25033000-25037400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:25033400-25037200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr20:25033600-25037400	Enhancers	NHDF-Ad	bronchial
15	chr20:25033800-25037200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr20:25034000-25037200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr20:25034200-25037800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr20:25034600-25037200	Enhancers	Lung	lung
19	chr20:25034600-25037200	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr20:25034600-25037200	Enhancers	Thymus	Thymus
21	chr20:25034800-25037200	Enhancers	A549	lung
22	chr20:25035000-25037200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:25035000-25037600	Enhancers	Fetal Heart	heart
24	chr20:25035200-25037200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr20:25035400-25037200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:25035600-25037200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr20:25035600-25037200	Enhancers	Gastric	stomach
28	chr20:25035800-25037600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr20:25035800-25037600	Flanking Active TSS	GM12878-XiMat	blood
30	chr20:25035800-25037600	Enhancers	Osteobl	bone
31	chr20:25036000-25037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:25036000-25037400	Enhancers	K562	blood
33	chr20:25036000-25037800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr20:25036200-25037200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr20:25036200-25037200	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr20:25036200-25037400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr20:25036200-25037600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr20:25036200-25037600	Weak transcription	Fetal Kidney	kidney
39	chr20:25036400-25037200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr20:25036400-25037400	Enhancers	Esophagus	oesophagus
41	chr20:25036400-25037400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
42	chr20:25036400-25037800	Flanking Active TSS	Placenta	Placenta
43	chr20:25036400-25037800	Flanking Active TSS	Dnd41	blood
44	chr20:25036600-25037200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr20:25036600-25037200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr20:25036600-25037400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr20:25036600-25037800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:25036600-25037800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr20:25036600-25037800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr20:25036600-25038000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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