Variant report

Variant	rs11209593
Chromosome Location	chr1:70630061-70630062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70623869..70625686-chr1:70628190..70630763,2	K562	blood:
2	chr1:70629583..70631880-chr1:70637700..70639670,3	K562	blood:
3	chr1:70622913..70625686-chr1:70626879..70630763,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72929219	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv871339	chr1:70605735-70634463	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70601000-70643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:70601200-70652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:70603400-70648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:70605400-70639400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:70606600-70633800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:70606800-70634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:70606800-70634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:70606800-70651600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:70607000-70633800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
12	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
13	chr1:70607200-70652600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:70607400-70655200	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:70608200-70645400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:70608400-70653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:70608800-70654800	Weak transcription	Thymus	Thymus
18	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
19	chr1:70609200-70633800	Weak transcription	Lung	lung
20	chr1:70609200-70647600	Weak transcription	Colonic Mucosa	Colon
21	chr1:70609200-70650200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:70609400-70638800	Weak transcription	Placenta	Placenta
23	chr1:70609400-70649800	Weak transcription	Fetal Brain Male	brain
24	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:70610000-70642600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:70610000-70667800	Weak transcription	HepG2	liver
28	chr1:70610400-70650200	Weak transcription	GM12878-XiMat	blood
29	chr1:70610400-70653600	Weak transcription	Gastric	stomach
30	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:70611200-70645000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
34	chr1:70611400-70652800	Weak transcription	Spleen	Spleen
35	chr1:70611600-70643000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
37	chr1:70613000-70649200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:70613400-70638000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
42	chr1:70613800-70643000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:70613800-70645200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:70613800-70649200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:70614400-70651000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
48	chr1:70615000-70670000	Weak transcription	NH-A	brain
49	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:70615200-70633800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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