Variant report

Variant	rs11894352
Chromosome Location	chr2:47665619-47665620
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	chr2:47661842..47663502-chr2:47665163..47667199,2	K562	blood:
2	chr2:47664648..47667172-chr2:47669618..47672441,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11686493	0.83[EUR][1000 genomes]
rs11888687	0.87[AFR][1000 genomes]
rs12232996	0.95[EUR][1000 genomes]
rs12999145	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13019133	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17036614	1.00[EUR][1000 genomes]
rs17036639	0.90[EUR][1000 genomes]
rs17224332	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17224339	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2042649	1.00[EUR][1000 genomes]
rs2303428	1.00[EUR][1000 genomes]
rs3771283	1.00[EUR][1000 genomes]
rs6544993	0.90[EUR][1000 genomes]
rs7581381	1.00[EUR][1000 genomes]
rs7585925	1.00[EUR][1000 genomes];0.88[ASN][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
3	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
4	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
5	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
6	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
7	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:47644800-47692000	Weak transcription	Fetal Brain Male	brain
10	chr2:47648600-47668600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:47652000-47666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:47655600-47682800	Weak transcription	Stomach Mucosa	stomach
13	chr2:47658000-47670600	Weak transcription	Aorta	Aorta
14	chr2:47658000-47674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:47658000-47690400	Weak transcription	NHEK	skin
16	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
18	chr2:47658200-47668800	Weak transcription	Spleen	Spleen
19	chr2:47658200-47670600	Weak transcription	Brain Angular Gyrus	brain
20	chr2:47658200-47671200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:47658200-47673000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:47658200-47674800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:47658200-47690200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:47658200-47690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:47658200-47690400	Weak transcription	Left Ventricle	heart
26	chr2:47658200-47690600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:47658200-47691000	Weak transcription	Gastric	stomach
28	chr2:47658200-47692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:47658200-47692600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
33	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
35	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:47658400-47666000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:47658400-47670200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:47658400-47672600	Weak transcription	NHDF-Ad	bronchial
39	chr2:47658400-47672800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:47658400-47673000	Weak transcription	Liver	Liver
41	chr2:47658400-47690200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:47658400-47690200	Weak transcription	Fetal Kidney	kidney
43	chr2:47658400-47690200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:47658400-47690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:47658400-47690400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:47658400-47690400	Weak transcription	Placenta	Placenta
47	chr2:47658400-47690600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:47658400-47690800	Weak transcription	HSMM	muscle
49	chr2:47658400-47691000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:47658400-47695200	Weak transcription	NHLF	lung

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