Variant report

Variant	rs627715
Chromosome Location	chr10:6555831-6555832
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	chr10:6554252..6556682-chr10:6558816..6560926,2	K562	blood:
2	chr10:6536042..6540361-chr10:6554431..6558363,4	K562	blood:

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

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

rs_ID	r²[population]
rs2387407	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs500766	0.85[JPT][hapmap]
rs510745	0.86[AFR][1000 genomes]
rs563798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586355	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606289	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619125	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657701	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs667254	0.85[JPT][hapmap]
rs676674	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5687	chr10:6537209-6556751	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6499200-6562000	Weak transcription	Brain Anterior Caudate	brain
2	chr10:6501800-6557000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:6510000-6572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:6517200-6557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:6518200-6556800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:6540800-6556600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:6544600-6558200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:6546800-6561200	Weak transcription	HMEC	breast
9	chr10:6549800-6562400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:6550400-6562600	Weak transcription	Brain Substantia Nigra	brain
11	chr10:6550600-6562400	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:6553000-6557000	Weak transcription	Lung	lung
13	chr10:6553200-6556200	Weak transcription	Fetal Kidney	kidney
14	chr10:6553200-6559000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:6553200-6561200	Weak transcription	NHEK	skin
16	chr10:6553200-6571400	Weak transcription	Pancreas	Pancrea
17	chr10:6553600-6556400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:6553600-6556400	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:6553600-6556600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:6553600-6557800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr10:6553600-6558200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr10:6553600-6558200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:6553600-6558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:6553600-6558800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:6553600-6559800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:6553800-6558800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:6553800-6559600	Weak transcription	Fetal Intestine Small	intestine
28	chr10:6554000-6556000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr10:6554000-6557000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:6554200-6557400	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr10:6554200-6557400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:6554200-6557800	Enhancers	Fetal Stomach	stomach
33	chr10:6554200-6558000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr10:6554400-6556000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr10:6554400-6556200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:6554400-6556400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr10:6554600-6556800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:6554600-6557200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:6554600-6557200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr10:6554800-6556600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr10:6554800-6557400	Genic enhancers	Dnd41	blood
42	chr10:6555000-6556000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr10:6555000-6556400	Strong transcription	K562	blood
44	chr10:6555000-6556800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr10:6555000-6557000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr10:6555200-6556000	Enhancers	Psoas Muscle	Psoas
47	chr10:6555200-6556200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr10:6555200-6556600	Genic enhancers	Primary T cells from cord blood	blood
49	chr10:6555200-6557000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:6555400-6556600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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