Variant report

Variant	rs2287647
Chromosome Location	chr14:78285474-78285475
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	chr14:78284551..78287243-chr14:78287692..78289277,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10137794	0.96[EUR][1000 genomes]
rs10151830	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs10483887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159286	1.00[CEU][hapmap];0.93[GIH][hapmap]
rs11159296	0.97[ASN][1000 genomes]
rs11628161	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs12433276	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs12433306	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106419	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106513	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs17106514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106524	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106532	1.00[CHB][hapmap]
rs17106537	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17106552	1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106556	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs17106561	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17106579	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17106585	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs176942	1.00[CEU][hapmap]
rs176945	1.00[CEU][hapmap]
rs176967	1.00[CEU][hapmap]
rs2287649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2364740	1.00[CHB][hapmap]
rs2886169	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783956	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783958	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3783963	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs3783965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3783975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825690	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs4622441	1.00[CEU][hapmap]
rs56056525	0.85[ASN][1000 genomes]
rs57241351	0.85[ASN][1000 genomes]
rs61166317	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990723	0.97[ASN][1000 genomes]
rs6574403	0.88[EUR][1000 genomes]
rs7140153	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144053	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7151514	1.00[CEU][hapmap]
rs7156202	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8008106	0.92[ASN][1000 genomes]
rs8021036	1.00[CEU][hapmap]
rs874024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874434	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
2	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
4	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
5	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:78280000-78287600	Weak transcription	K562	blood
9	chr14:78280600-78285600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:78282800-78288600	Weak transcription	Pancreas	Pancrea
11	chr14:78283000-78293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr14:78283200-78285600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
14	chr14:78283400-78286000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:78283400-78289200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:78283600-78286000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:78283600-78286200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
19	chr14:78283800-78285600	Weak transcription	Colonic Mucosa	Colon
20	chr14:78283800-78286000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:78283800-78288800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:78283800-78288800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:78284000-78285600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:78284000-78285800	Weak transcription	Fetal Thymus	thymus
26	chr14:78284000-78288600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:78284000-78289200	Weak transcription	NHEK	skin
28	chr14:78284000-78292200	Weak transcription	Stomach Mucosa	stomach
29	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:78284200-78285600	Weak transcription	Ovary	ovary
31	chr14:78284200-78289000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:78284200-78298000	Weak transcription	HepG2	liver
33	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
34	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:78284600-78286400	Strong transcription	Brain Cingulate Gyrus	brain
36	chr14:78284600-78286600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:78284600-78288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:78284600-78289400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:78284800-78286600	Strong transcription	Brain Angular Gyrus	brain
40	chr14:78284800-78288800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:78284800-78289600	Strong transcription	Adipose Nuclei	Adipose
42	chr14:78284800-78289800	Strong transcription	Fetal Muscle Leg	muscle
43	chr14:78284800-78291600	Weak transcription	Fetal Heart	heart
44	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
45	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:78285000-78286800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:78285000-78287000	Strong transcription	Primary B cells from cord blood	blood
48	chr14:78285000-78287000	Strong transcription	Primary T cells from cord blood	blood
49	chr14:78285000-78287200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:78285000-78289600	Strong transcription	Brain Hippocampus Middle	brain

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