Variant report

Variant	rs11120094
Chromosome Location	chr1:213330726-213330727
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	chr1:213330161..213332655-chr1:213493132..213495039,2	K562	blood:
2	chr1:213330345..213332641-chr1:213343084..213346080,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12082134	0.82[ASN][1000 genomes]
rs2817985	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2841433	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs57845296	0.82[ASN][1000 genomes]
rs60727621	0.82[ASN][1000 genomes]
rs61834102	0.82[EUR][1000 genomes]
rs61834116	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs61834117	0.82[ASN][1000 genomes]
rs61834118	0.86[ASN][1000 genomes]
rs61834119	0.82[ASN][1000 genomes]
rs61834123	0.82[ASN][1000 genomes]
rs9429904	0.82[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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv508692	chr1:213309036-213330907	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3452689	chr1:213328606-213331677	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3452690	chr1:213328606-213331677	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:213301000-213374800	Weak transcription	HSMM	muscle
4	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:213310000-213345800	Weak transcription	Lung	lung
8	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:213310400-213333600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:213310400-213345800	Weak transcription	Ovary	ovary
11	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
12	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:213312200-213343600	Weak transcription	HepG2	liver
14	chr1:213312400-213336000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:213313800-213336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:213316000-213340000	Weak transcription	Psoas Muscle	Psoas
17	chr1:213316400-213336200	Weak transcription	NH-A	brain
18	chr1:213317400-213349600	Weak transcription	Left Ventricle	heart
19	chr1:213317800-213331000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:213317800-213351600	Weak transcription	Fetal Kidney	kidney
21	chr1:213322200-213331600	Weak transcription	Brain Anterior Caudate	brain
22	chr1:213323000-213346000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:213323000-213349600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:213323200-213345400	Weak transcription	Primary B cells from cord blood	blood
25	chr1:213325200-213359600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:213325600-213353400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:213326200-213332600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:213327000-213351000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:213327800-213345400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:213327800-213352800	Weak transcription	Esophagus	oesophagus
32	chr1:213328000-213331000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:213328000-213336000	Weak transcription	NHDF-Ad	bronchial
34	chr1:213328000-213339400	Weak transcription	Stomach Mucosa	stomach
35	chr1:213328000-213358200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:213328200-213331400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
38	chr1:213328400-213331400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:213328400-213345800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:213328400-213353400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:213328600-213332600	Weak transcription	Fetal Lung	lung
42	chr1:213328600-213336200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:213328600-213340000	Weak transcription	Pancreas	Pancrea
44	chr1:213328600-213360200	Weak transcription	K562	blood
45	chr1:213328800-213332600	Weak transcription	Aorta	Aorta
46	chr1:213328800-213345400	Weak transcription	Primary T cells from cord blood	blood
47	chr1:213329000-213332000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:213329000-213333000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:213329000-213333800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:213329000-213351200	Weak transcription	Fetal Intestine Small	intestine

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