Variant report

Variant	rs55662637
Chromosome Location	chr2:47689863-47689864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47687989..47690530-chr2:47706375..47708428,3	K562	blood:
2	chr2:47689406..47692258-chr2:47693990..47696937,2	K562	blood:
3	chr2:47402704..47405093-chr2:47688363..47690526,2	K562	blood:
4	chr2:47686447..47689013-chr2:47689515..47692441,2	K562	blood:

Variant related genes	Relation type
ENSG00000095002	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13395123	1.00[EUR][1000 genomes]
rs17217905	1.00[AMR][1000 genomes]
rs17218097	1.00[EUR][1000 genomes]
rs17218153	1.00[EUR][1000 genomes]
rs17224549	1.00[EUR][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:124 , 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	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
4	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
5	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
6	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:47643600-47703400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:47644800-47692000	Weak transcription	Fetal Brain Male	brain
9	chr2:47658000-47690400	Weak transcription	NHEK	skin
10	chr2:47658000-47707000	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:47658000-47714200	Weak transcription	Small Intestine	intestine
12	chr2:47658200-47690200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:47658200-47690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:47658200-47690400	Weak transcription	Left Ventricle	heart
15	chr2:47658200-47690600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:47658200-47691000	Weak transcription	Gastric	stomach
17	chr2:47658200-47692600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:47658200-47692600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:47658200-47709200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:47658200-47710400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:47658200-47713400	Weak transcription	Fetal Heart	heart
22	chr2:47658200-47714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:47658200-47714800	Weak transcription	HSMMtube	muscle
24	chr2:47658200-47724800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:47658400-47690200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:47658400-47690200	Weak transcription	Fetal Kidney	kidney
27	chr2:47658400-47690200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:47658400-47690400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:47658400-47690400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:47658400-47690400	Weak transcription	Placenta	Placenta
31	chr2:47658400-47690600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:47658400-47690800	Weak transcription	HSMM	muscle
33	chr2:47658400-47691000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:47658400-47695200	Weak transcription	NHLF	lung
35	chr2:47658400-47713600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:47658400-47716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:47658800-47712600	Weak transcription	Osteobl	bone
38	chr2:47659000-47690400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:47659600-47690400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:47661800-47690400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:47661800-47692200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:47662000-47690000	Weak transcription	Fetal Intestine Large	intestine
43	chr2:47665600-47690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:47665800-47690000	Weak transcription	NH-A	brain
45	chr2:47666000-47691000	Weak transcription	HMEC	breast
46	chr2:47666200-47691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:47667000-47690000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:47667000-47690400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:47671000-47690400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:47671400-47690200	Weak transcription	Brain Angular Gyrus	brain

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