Variant report

Variant	rs17839661
Chromosome Location	chr5:127349191-127349192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127348432..127350036-chr5:127352208..127354084,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10055519	0.86[LWK][hapmap];0.85[MKK][hapmap]
rs10064377	0.88[YRI][hapmap]
rs10065431	0.88[YRI][hapmap]
rs10067006	1.00[AMR][1000 genomes]
rs10074832	1.00[AMR][1000 genomes]
rs10213931	1.00[AMR][1000 genomes]
rs10478804	1.00[AMR][1000 genomes]
rs17164360	1.00[MKK][hapmap]
rs6862016	0.85[MKK][hapmap];1.00[AMR][1000 genomes]
rs7721945	0.98[AFR][1000 genomes];1.00[AMR][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	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
3	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
6	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
8	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
10	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
11	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
15	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:127334600-127394000	Weak transcription	Lung	lung
17	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
18	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
19	chr5:127335800-127349400	Weak transcription	Fetal Intestine Small	intestine
20	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:127338400-127355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:127338600-127358400	Weak transcription	HMEC	breast
23	chr5:127338600-127359400	Weak transcription	Ovary	ovary
24	chr5:127339000-127354600	Weak transcription	Primary B cells from cord blood	blood
25	chr5:127341800-127356000	Weak transcription	Psoas Muscle	Psoas
26	chr5:127342000-127358600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:127343800-127361600	Weak transcription	Adipose Nuclei	Adipose
29	chr5:127344400-127350400	Weak transcription	A549	lung
30	chr5:127345400-127355800	Weak transcription	Gastric	stomach
31	chr5:127345400-127357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:127345600-127371400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:127345800-127351000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:127347000-127349800	Weak transcription	HUVEC	blood vessel
35	chr5:127347000-127358400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:127347400-127362200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:127347800-127365800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:127348000-127349400	Weak transcription	Small Intestine	intestine
39	chr5:127349000-127349400	Enhancers	Fetal Heart	heart

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