Variant report

Variant	rs591304
Chromosome Location	chr11:63343322-63343323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63331562..63338573-chr11:63339589..63345066,10	K562	blood:
2	chr11:63342404..63344598-chr11:63348502..63350026,2	K562	blood:
3	chr11:63335398..63338741-chr11:63339589..63343620,5	K562	blood:
4	chr11:63297892..63300714-chr11:63340619..63343561,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17657473	1.00[LWK][hapmap]

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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv3478574	chr11:63325593-63357585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3438288	chr11:63325619-63357715	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3478585	chr11:63325712-63357437	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63330800-63347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:63332400-63357200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:63335200-63347400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:63335600-63347400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:63336400-63347400	Weak transcription	Hela-S3	cervix
6	chr11:63340600-63344600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:63340800-63344200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:63340800-63344400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:63341000-63344200	Genic enhancers	Brain Cingulate Gyrus	brain
10	chr11:63341200-63343600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:63341200-63343800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:63341200-63343800	Enhancers	Right Ventricle	heart
13	chr11:63341200-63344200	Genic enhancers	Brain Substantia Nigra	brain
14	chr11:63341200-63344400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:63341400-63343600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:63341400-63343800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:63341400-63344000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:63341800-63343600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:63342000-63349800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:63342200-63343800	Enhancers	Brain Angular Gyrus	brain
21	chr11:63342600-63343600	Enhancers	Stomach Mucosa	stomach
22	chr11:63342600-63344000	Genic enhancers	Brain Hippocampus Middle	brain
23	chr11:63342600-63344000	Enhancers	Ovary	ovary
24	chr11:63342600-63344200	Genic enhancers	Adipose Nuclei	Adipose
25	chr11:63342600-63349000	Weak transcription	Aorta	Aorta
26	chr11:63342800-63343400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr11:63342800-63343800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:63342800-63347400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:63342800-63347400	Weak transcription	Brain Anterior Caudate	brain
30	chr11:63342800-63347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:63342800-63349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:63342800-63357200	Weak transcription	Pancreas	Pancrea
33	chr11:63342800-63357400	Weak transcription	Esophagus	oesophagus
34	chr11:63343000-63343600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:63343000-63343600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:63343000-63343800	Enhancers	Liver	Liver
37	chr11:63343000-63343800	Enhancers	Colon Smooth Muscle	Colon
38	chr11:63343000-63343800	Weak transcription	Psoas Muscle	Psoas
39	chr11:63343000-63343800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:63343000-63343800	Enhancers	Stomach Smooth Muscle	stomach
41	chr11:63343000-63343800	Enhancers	HepG2	liver
42	chr11:63343000-63344400	Weak transcription	Right Atrium	heart
43	chr11:63343000-63344600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:63343000-63344800	Weak transcription	Fetal Intestine Small	intestine
45	chr11:63343000-63347200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:63343000-63347400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:63343000-63347400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:63343000-63347400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:63343000-63347400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:63343000-63347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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