Variant report

Variant	rs8010250
Chromosome Location	chr14:77969769-77969770
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10147023	1.00[CEU][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs10149323	0.93[EUR][1000 genomes]
rs12433414	0.96[EUR][1000 genomes]
rs12436583	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13379482	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs28776598	0.96[EUR][1000 genomes]
rs4903589	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6574379	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7147867	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7155181	0.96[EUR][1000 genomes]
rs73319055	0.93[EUR][1000 genomes]
rs8004601	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8010934	0.95[AMR][1000 genomes];0.98[EUR][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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77965600-77977600	Weak transcription	Aorta	Aorta
2	chr14:77965800-77974600	Weak transcription	A549	lung
3	chr14:77966000-77973400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:77966000-77977400	Weak transcription	HMEC	breast
5	chr14:77966200-77970600	Weak transcription	HSMM	muscle
6	chr14:77966400-77972800	Weak transcription	Esophagus	oesophagus
7	chr14:77966400-77974000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:77966400-77976800	Weak transcription	Spleen	Spleen
9	chr14:77966400-77977000	Weak transcription	Pancreas	Pancrea
10	chr14:77966400-77977600	Weak transcription	Gastric	stomach
11	chr14:77966600-77977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:77966600-77977600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:77966600-77977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:77966800-77972600	Weak transcription	Osteobl	bone
15	chr14:77966800-77972800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:77966800-77973200	Weak transcription	Placenta	Placenta
17	chr14:77967000-77974200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr14:77967200-77970000	Enhancers	HepG2	liver
19	chr14:77967200-77971600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:77967200-77972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:77967200-77978000	Weak transcription	Stomach Mucosa	stomach
22	chr14:77967400-77974600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:77967400-77977000	Weak transcription	NH-A	brain
24	chr14:77967600-77972200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:77967600-77972600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:77967600-77972600	Weak transcription	HSMMtube	muscle
27	chr14:77967800-77972800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:77968000-77976400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:77968200-77972800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:77968200-77972800	Weak transcription	Fetal Thymus	thymus
31	chr14:77968200-77972800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr14:77968200-77977600	Weak transcription	Small Intestine	intestine
33	chr14:77968400-77974400	Weak transcription	HUVEC	blood vessel
34	chr14:77968400-77977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:77968400-77977600	Weak transcription	GM12878-XiMat	blood
36	chr14:77968400-77977800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:77968600-77971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:77968600-77977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:77968800-77972200	Weak transcription	Primary B cells from cord blood	blood
40	chr14:77968800-77974400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:77969000-77972800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:77969000-77973000	Weak transcription	Fetal Stomach	stomach
43	chr14:77969000-77975200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:77969000-77977000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:77969000-77977600	Weak transcription	Thymus	Thymus
46	chr14:77969400-77970000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr14:77969400-77972600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:77969400-77974600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:77969400-77977000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:77969400-77977000	Weak transcription	Rectal Smooth Muscle	rectum

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