Variant report

Variant	rs11118831
Chromosome Location	chr1:221882028-221882029
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221878250..221880861-chr1:221881070..221882576,2	MCF-7	breast:
2	chr1:221856937..221858911-chr1:221881533..221884084,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11118834	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17010612	1.00[ASN][1000 genomes]
rs2280340	1.00[ASN][1000 genomes]
rs4537559	1.00[ASN][1000 genomes]
rs61820076	0.94[ASN][1000 genomes]
rs6604664	0.87[ASN][1000 genomes]
rs6604665	0.87[ASN][1000 genomes]
rs67717154	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7515010	0.87[ASN][1000 genomes]
rs7550105	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:221870000-221885400	Weak transcription	NHEK	skin
3	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:221872200-221882400	Weak transcription	Psoas Muscle	Psoas
5	chr1:221873000-221882600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:221873200-221885200	Weak transcription	NH-A	brain
7	chr1:221873800-221882600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:221873800-221882600	Weak transcription	Small Intestine	intestine
9	chr1:221873800-221885200	Weak transcription	Hela-S3	cervix
10	chr1:221874200-221882600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:221874400-221882400	Weak transcription	Gastric	stomach
12	chr1:221875400-221889600	Weak transcription	Fetal Kidney	kidney
13	chr1:221877400-221889200	Weak transcription	Colonic Mucosa	Colon
14	chr1:221877600-221882400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:221878000-221885400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:221878200-221882200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:221878600-221882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:221879400-221884600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:221879400-221885000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:221879600-221882400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:221879600-221882600	Weak transcription	Fetal Intestine Large	intestine
22	chr1:221879600-221882800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:221879600-221886200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:221879600-221891000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:221879600-221891800	Enhancers	Fetal Thymus	thymus
26	chr1:221879600-221902400	Enhancers	Brain Substantia Nigra	brain
27	chr1:221879800-221882400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:221879800-221882400	Weak transcription	Left Ventricle	heart
29	chr1:221879800-221882800	Enhancers	Thymus	Thymus
30	chr1:221879800-221885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:221879800-221886200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:221879800-221886400	Weak transcription	Spleen	Spleen
33	chr1:221879800-221887000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:221879800-221889000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:221879800-221889600	Weak transcription	Esophagus	oesophagus
36	chr1:221879800-221890200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:221879800-221890200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:221879800-221896800	Enhancers	Colon Smooth Muscle	Colon
39	chr1:221880000-221882200	Enhancers	Brain Angular Gyrus	brain
40	chr1:221880000-221882800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:221880000-221883000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:221880000-221886200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:221880000-221886200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:221880000-221889600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:221880200-221882600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:221880200-221885400	Enhancers	Fetal Muscle Leg	muscle
47	chr1:221880200-221885600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:221880200-221886400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:221880200-221886400	Weak transcription	Aorta	Aorta
50	chr1:221880200-221889200	Weak transcription	Right Atrium	heart

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