Variant report

Variant	rs7747449
Chromosome Location	chr6:11711539-11711540
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	chr6:11710777..11713015-chr6:11730009..11731518,2	K562	blood:
2	chr6:11710372..11713269-chr6:11723329..11725416,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs105924	0.91[ASN][1000 genomes]
rs12665068	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs210896	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs210897	0.91[ASN][1000 genomes]
rs210903	0.93[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2235404	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2235417	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2235421	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs2294429	0.91[ASN][1000 genomes]
rs3765253	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4711401	0.93[ASN][1000 genomes]
rs4713873	0.87[JPT][hapmap]
rs9296142	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.89[ASN][1000 genomes]
rs9469927	0.96[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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462637	chr6:11710554-11733777	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600990	chr6:11710554-11733777	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11701800-11713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:11703600-11712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:11704200-11714800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:11705800-11712000	Weak transcription	Adipose Nuclei	Adipose
5	chr6:11706600-11712000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:11707200-11711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:11708200-11714800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:11708400-11716800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:11709000-11714800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:11709000-11715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:11709000-11716400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:11709800-11716400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:11710000-11711600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr6:11710000-11712200	Enhancers	Fetal Stomach	stomach
15	chr6:11710000-11715200	Enhancers	Fetal Thymus	thymus
16	chr6:11710200-11711800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr6:11710400-11711600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:11710400-11711800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr6:11710400-11711800	Enhancers	Fetal Heart	heart
20	chr6:11710400-11711800	Enhancers	Fetal Kidney	kidney
21	chr6:11710400-11712200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:11710400-11712800	Enhancers	NHEK	skin
23	chr6:11710400-11713200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:11710400-11713400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:11710400-11713400	Enhancers	Spleen	Spleen
26	chr6:11710400-11713600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:11710600-11711600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr6:11710600-11712800	Enhancers	Fetal Lung	lung
29	chr6:11710600-11713200	Enhancers	HMEC	breast
30	chr6:11710800-11711800	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr6:11710800-11711800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr6:11710800-11712200	Enhancers	Brain Hippocampus Middle	brain
33	chr6:11710800-11712600	Enhancers	Esophagus	oesophagus
34	chr6:11710800-11712800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:11710800-11713600	Enhancers	NHLF	lung
36	chr6:11710800-11731000	Weak transcription	Gastric	stomach
37	chr6:11711000-11711600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:11711000-11711600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:11711000-11711800	Enhancers	Primary T cells from cord blood	blood
40	chr6:11711000-11712000	Flanking Active TSS	Fetal Brain Female	brain
41	chr6:11711000-11712000	Flanking Active TSS	HSMMtube	muscle
42	chr6:11711000-11712200	Enhancers	Fetal Brain Male	brain
43	chr6:11711000-11712200	Enhancers	NH-A	brain
44	chr6:11711000-11712800	Enhancers	Right Atrium	heart
45	chr6:11711200-11711600	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr6:11711200-11711600	Enhancers	Psoas Muscle	Psoas
47	chr6:11711200-11711800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:11711200-11711800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr6:11711200-11711800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:11711200-11711800	Enhancers	Placenta	Placenta

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