Variant report

Variant	rs2287649
Chromosome Location	chr14:78353797-78353798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78348937..78352037-chr14:78352512..78354999,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10151830	1.00[CHB][hapmap]
rs10483887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11159296	0.95[ASN][1000 genomes]
rs11628161	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs12433276	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs12433306	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106419	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17106425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17106489	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106503	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106513	1.00[CHB][hapmap]
rs17106514	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106518	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106522	0.82[AFR][1000 genomes]
rs17106524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106532	1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs17106537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17106556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17106561	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106579	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs17106585	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs2287647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2364740	1.00[CHB][hapmap]
rs2886169	0.97[ASN][1000 genomes]
rs35636358	0.94[AFR][1000 genomes]
rs3783956	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs3783958	0.93[ASN][1000 genomes]
rs3783963	1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs3783965	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3783975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3825690	1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs56056525	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56239817	0.82[AFR][1000 genomes]
rs57241351	0.93[ASN][1000 genomes]
rs61166317	0.92[ASN][1000 genomes]
rs61990723	0.95[ASN][1000 genomes]
rs7140153	1.00[ASN][1000 genomes]
rs7156202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs8008106	1.00[ASN][1000 genomes]
rs874024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs874434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
2	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
4	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
5	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
6	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
8	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
10	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:78349200-78355200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:78349200-78355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:78349200-78356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:78349200-78356000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:78349200-78358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
18	chr14:78349400-78354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:78349400-78355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
21	chr14:78349800-78358400	Weak transcription	Stomach Mucosa	stomach
22	chr14:78350000-78355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:78350200-78355600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:78350200-78355800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:78350400-78354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:78350400-78354400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:78350400-78354400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:78350400-78361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:78350600-78354800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:78350600-78365400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:78350800-78375800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:78350800-78376200	Weak transcription	Brain Angular Gyrus	brain
33	chr14:78351200-78356800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:78351400-78353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:78351400-78354600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:78352200-78353800	Weak transcription	K562	blood
37	chr14:78352200-78356400	Weak transcription	HMEC	breast
38	chr14:78352400-78354000	Strong transcription	Gastric	stomach
39	chr14:78352600-78354000	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:78352600-78354400	Strong transcription	Spleen	Spleen
41	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:78352800-78354600	Strong transcription	Fetal Stomach	stomach
43	chr14:78352800-78355000	Strong transcription	Esophagus	oesophagus
44	chr14:78352800-78356600	Strong transcription	Primary T cells from cord blood	blood
45	chr14:78353000-78354800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:78353000-78356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:78353200-78356400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:78353400-78353800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:78353400-78353800	Strong transcription	Lung	lung
50	chr14:78353400-78354000	Strong transcription	Brain Inferior Temporal Lobe	brain

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