Variant report

Variant	rs10214217
Chromosome Location	chr5:142492941-142492942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142489594..142492192-chr5:142492646..142494592,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10044668	1.00[EUR][1000 genomes]
rs10045128	1.00[EUR][1000 genomes]
rs10051655	1.00[EUR][1000 genomes]
rs10056044	1.00[EUR][1000 genomes]
rs10065814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10074187	1.00[EUR][1000 genomes]
rs10076583	1.00[EUR][1000 genomes]
rs10080138	1.00[EUR][1000 genomes]
rs10155562	1.00[EUR][1000 genomes]
rs10477199	1.00[EUR][1000 genomes]
rs10477201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477202	1.00[EUR][1000 genomes]
rs11167803	0.88[AFR][1000 genomes]
rs11951777	1.00[EUR][1000 genomes]
rs12332305	1.00[EUR][1000 genomes]
rs13356063	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2108645	1.00[EUR][1000 genomes]
rs28688005	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2963146	1.00[EUR][1000 genomes]
rs58817012	1.00[EUR][1000 genomes]
rs60473595	0.81[AFR][1000 genomes]
rs60477396	1.00[AFR][1000 genomes]
rs61287676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7702357	1.00[EUR][1000 genomes]
rs9324902	1.00[EUR][1000 genomes]
rs9324906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830511	chr5:142335447-142496694	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1025662	chr5:142345454-142498236	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522807	chr5:142417658-142529960	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142450000-142497000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:142463200-142513600	Weak transcription	Thymus	Thymus
3	chr5:142474400-142527200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:142479200-142503600	Weak transcription	Fetal Thymus	thymus
5	chr5:142480400-142498600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:142480600-142500600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:142481000-142500600	Weak transcription	Dnd41	blood
8	chr5:142482000-142504200	Weak transcription	Aorta	Aorta
9	chr5:142482200-142499000	Weak transcription	Fetal Stomach	stomach
10	chr5:142482400-142496600	Weak transcription	Brain Substantia Nigra	brain
11	chr5:142482600-142496800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:142482600-142500200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:142485800-142508000	Weak transcription	HSMM	muscle
14	chr5:142486000-142493800	Enhancers	Fetal Heart	heart
15	chr5:142488400-142500600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:142488600-142493200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:142488600-142505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:142488800-142497600	Weak transcription	Small Intestine	intestine
19	chr5:142489000-142493400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:142489000-142508000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:142489000-142514400	Weak transcription	Brain Anterior Caudate	brain
22	chr5:142490000-142504200	Weak transcription	Gastric	stomach
23	chr5:142490000-142508000	Weak transcription	Spleen	Spleen
24	chr5:142490200-142493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:142490200-142497400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:142490200-142498600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:142490200-142504200	Weak transcription	Pancreas	Pancrea
28	chr5:142490600-142493600	Weak transcription	HMEC	breast
29	chr5:142490600-142493800	Weak transcription	NHEK	skin
30	chr5:142490600-142495200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:142490600-142498200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:142490600-142498600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:142490600-142498800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:142490600-142500000	Weak transcription	Liver	Liver
35	chr5:142490600-142502800	Weak transcription	HepG2	liver
36	chr5:142490800-142496400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:142490800-142497400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:142491200-142497800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:142491200-142498600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:142491400-142494200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:142491400-142497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:142491600-142493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:142491600-142493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:142491600-142496200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:142491600-142496400	Weak transcription	Adipose Nuclei	Adipose
46	chr5:142491600-142496400	Weak transcription	Brain Angular Gyrus	brain
47	chr5:142491600-142496400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:142491600-142497400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:142491600-142498800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:142491600-142500200	Weak transcription	Placenta	Placenta

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