Variant report

Variant	rs7743306
Chromosome Location	chr6:27639624-27639625
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27638059..27640499-chr6:27771985..27774359,2	MCF-7	breast:
2	chr6:27635682..27638550-chr6:27638732..27640689,2	K562	blood:
3	chr6:27521716..27523597-chr6:27638518..27641412,2	K562	blood:
4	chr6:27514797..27517693-chr6:27638878..27641841,2	K562	blood:
5	chr6:27638628..27643322-chr6:27645901..27648389,5	K562	blood:
6	chr6:27520667..27523597-chr6:27638518..27640163,2	K562	blood:
7	chr6:27630813..27632433-chr6:27638083..27640183,2	K562	blood:
8	chr6:27638960..27640741-chr6:27721974..27723507,2	K562	blood:
9	chr6:27638511..27640202-chr6:27651089..27652641,2	K562	blood:
10	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
11	chr6:27638340..27640249-chr6:27659440..27661461,2	K562	blood:
12	chr6:27638297..27640693-chr6:27651718..27653720,2	MCF-7	breast:

No data

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10946941	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750956	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751859	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753572	1.00[ASN][1000 genomes]
rs11754166	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756458	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757748	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11962403	1.00[ASN][1000 genomes]
rs11962868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap]
rs11963773	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11963780	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11963925	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11966553	1.00[ASN][1000 genomes]
rs11966565	0.90[EUR][1000 genomes]
rs11970095	1.00[ASN][1000 genomes]
rs11970451	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap]
rs200471	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs57433313	1.00[AMR][1000 genomes]
rs59701161	0.81[AFR][1000 genomes]
rs61025649	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901437	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6908615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs6915101	1.00[CEU][hapmap]
rs6933702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6936952	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs73384331	0.90[EUR][1000 genomes]
rs73385109	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385150	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73385153	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73386651	1.00[AMR][1000 genomes]
rs73389017	0.90[EUR][1000 genomes]
rs73389037	0.90[EUR][1000 genomes]
rs73389064	0.90[EUR][1000 genomes]
rs7744248	1.00[ASN][1000 genomes]
rs9468227	1.00[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:27634800-27640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:27637800-27640600	Active TSS	Ovary	ovary
6	chr6:27638000-27640200	Enhancers	Adipose Nuclei	Adipose
7	chr6:27638000-27640400	Weak transcription	Right Atrium	heart
8	chr6:27638000-27640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:27638000-27640800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:27638000-27641200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:27638000-27641200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:27638000-27641400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr6:27638200-27641400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:27638400-27639800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:27638400-27640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:27638400-27640400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:27638400-27641200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr6:27638400-27641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:27638400-27641400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:27638600-27640000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:27638600-27641000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:27638800-27640000	Enhancers	HUVEC	blood vessel
23	chr6:27638800-27640800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:27638800-27640800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:27639000-27639800	Flanking Active TSS	GM12878-XiMat	blood
26	chr6:27639200-27639800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr6:27639200-27639800	Flanking Active TSS	HepG2	liver
28	chr6:27639200-27639800	Flanking Active TSS	HMEC	breast
29	chr6:27639200-27639800	Flanking Active TSS	NHEK	skin
30	chr6:27639200-27640000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr6:27639200-27640000	Weak transcription	NH-A	brain
32	chr6:27639200-27640200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr6:27639400-27639800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:27639400-27639800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:27639400-27639800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr6:27639400-27639800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:27639400-27640000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:27639400-27640200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr6:27639400-27640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:27639400-27640600	Active TSS	Osteobl	bone
41	chr6:27639400-27640800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:27639400-27640800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr6:27639600-27639800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:27639600-27639800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
45	chr6:27639600-27639800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
46	chr6:27639600-27639800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr6:27639600-27640200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr6:27639600-27640400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:27639600-27640600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:27639600-27640800	Active TSS	Hela-S3	cervix

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