Variant report

Variant	rs6871578
Chromosome Location	chr5:112502367-112502368
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	chr5:112492254..112496189-chr5:112498530..112504608,6	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1348432	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17135387	0.84[YRI][hapmap]
rs6866411	1.00[ASN][1000 genomes]
rs6866874	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871346	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709353	1.00[ASN][1000 genomes]
rs7711281	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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112496000-112502400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112496400-112502400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:112496800-112503000	Enhancers	HMEC	breast
7	chr5:112497600-112503600	Enhancers	Ovary	ovary
8	chr5:112497800-112503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:112497800-112504400	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:112498000-112503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:112498400-112502400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112498800-112503200	Enhancers	Fetal Heart	heart
13	chr5:112499000-112502400	Weak transcription	Hela-S3	cervix
14	chr5:112499200-112502400	Enhancers	NHEK	skin
15	chr5:112499400-112502600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:112499400-112506400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:112499600-112502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:112499800-112502600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:112500000-112503000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:112500000-112503200	Enhancers	Liver	Liver
21	chr5:112500000-112507000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:112500200-112503000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:112500200-112503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:112500200-112503200	Enhancers	Fetal Lung	lung
25	chr5:112500600-112502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:112500600-112502400	Weak transcription	HUVEC	blood vessel
27	chr5:112500800-112506000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:112500800-112513800	Weak transcription	Lung	lung
29	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:112501000-112504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:112501000-112504400	Weak transcription	Esophagus	oesophagus
32	chr5:112501200-112502400	Enhancers	NHLF	lung
33	chr5:112501200-112503000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:112501200-112503000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:112501200-112504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:112501400-112502600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:112501400-112502600	Weak transcription	Left Ventricle	heart
38	chr5:112501400-112503800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:112501400-112504800	Weak transcription	Stomach Mucosa	stomach
40	chr5:112501400-112505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:112501600-112502400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:112501600-112502600	Weak transcription	Placenta	Placenta
43	chr5:112501600-112502600	Weak transcription	Right Atrium	heart
44	chr5:112501600-112503000	Weak transcription	Right Ventricle	heart
45	chr5:112501600-112503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:112501800-112502400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr5:112501800-112502800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112501800-112503200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:112501800-112503200	Enhancers	Fetal Stomach	stomach
50	chr5:112501800-112506200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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