Variant report

Variant	rs627705
Chromosome Location	chr6:140241272-140241273
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	chr6:140240716..140243560-chr6:140261380..140263735,2	K562	blood:
2	chr6:140238724..140241294-chr6:140241796..140244314,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2223966	0.99[ASN][1000 genomes]
rs581559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590585	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590587	0.97[ASN][1000 genomes]
rs592755	0.99[ASN][1000 genomes]
rs606159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs613274	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs618471	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629778	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632430	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs633026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs654917	1.00[ASN][1000 genomes]
rs661063	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904492	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7744208	0.84[JPT][hapmap]
rs7760148	0.85[JPT][hapmap]
rs9376477	0.85[JPT][hapmap]
rs9376478	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140227000-140247600	Weak transcription	Small Intestine	intestine
2	chr6:140238600-140242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:140238600-140242400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:140239000-140241800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:140239000-140242200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:140239200-140242200	Enhancers	K562	blood
7	chr6:140239200-140242400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:140239800-140244800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:140239800-140246400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:140239800-140251600	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:140240000-140248000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:140240200-140241600	Weak transcription	Fetal Brain Male	brain
13	chr6:140240200-140241800	Enhancers	Fetal Heart	heart
14	chr6:140240400-140241400	Enhancers	Left Ventricle	heart
15	chr6:140240400-140241400	Enhancers	Right Atrium	heart
16	chr6:140240400-140241800	Enhancers	Placenta	Placenta
17	chr6:140240400-140242000	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:140240400-140242200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:140240400-140242200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:140240600-140242400	Enhancers	Brain Germinal Matrix	brain
21	chr6:140240800-140241400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr6:140240800-140241400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:140240800-140241400	Enhancers	Fetal Thymus	thymus
24	chr6:140240800-140241600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr6:140240800-140241800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:140240800-140242400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:140240800-140242400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:140241000-140241400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr6:140241000-140241400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr6:140241000-140241600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:140241000-140241600	Enhancers	GM12878-XiMat	blood
32	chr6:140241200-140241400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:140241200-140241400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:140241200-140241400	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:140241200-140241400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr6:140241200-140241400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:140241200-140241600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:140241200-140241600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr6:140241200-140241600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:140241200-140241800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:140241200-140241800	Enhancers	Fetal Muscle Leg	muscle
42	chr6:140241200-140242000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:140241200-140242200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:140241200-140242200	Enhancers	Fetal Lung	lung
45	chr6:140241200-140242400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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