Variant report

Variant	rs4476816
Chromosome Location	chr6:11432812-11432813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11340393..11342489-chr6:11432505..11435028,2	MCF-7	breast:
2	chr6:11171902..11174211-chr6:11431419..11435176,3	MCF-7	breast:
3	chr6:11227633..11230379-chr6:11430461..11433425,2	MCF-7	breast:
4	chr6:11424461..11426917-chr6:11430880..11433034,2	K562	blood:

Variant related genes	Relation type
ENSG00000247925	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4711288	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919269	0.80[GIH][hapmap]
rs9380276	0.87[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11423400-11434200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:11423600-11435200	Enhancers	HepG2	liver
3	chr6:11423800-11435600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:11425600-11436200	Enhancers	Adipose Nuclei	Adipose
5	chr6:11427400-11433400	Enhancers	NH-A	brain
6	chr6:11428000-11434800	Weak transcription	Psoas Muscle	Psoas
7	chr6:11428000-11438000	Weak transcription	Esophagus	oesophagus
8	chr6:11428200-11434400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:11428600-11433400	Weak transcription	Fetal Intestine Small	intestine
10	chr6:11428600-11434600	Weak transcription	Pancreas	Pancrea
11	chr6:11429400-11433000	Weak transcription	Brain Anterior Caudate	brain
12	chr6:11429400-11433400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:11429400-11434600	Weak transcription	Fetal Lung	lung
14	chr6:11429400-11434800	Weak transcription	Right Atrium	heart
15	chr6:11429400-11434800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:11430000-11433000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:11430000-11435200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:11430000-11435800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:11430200-11433600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:11430200-11434400	Weak transcription	Small Intestine	intestine
21	chr6:11430400-11433400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:11430600-11433000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:11430600-11433600	Weak transcription	Fetal Kidney	kidney
24	chr6:11430600-11434600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:11430800-11435000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:11431000-11439200	Weak transcription	Primary B cells from cord blood	blood
27	chr6:11431600-11435400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:11431800-11433600	Enhancers	HSMMtube	muscle
29	chr6:11431800-11435200	Enhancers	Hela-S3	cervix
30	chr6:11431800-11435600	Enhancers	HSMM	muscle
31	chr6:11431800-11435600	Enhancers	NHDF-Ad	bronchial
32	chr6:11432000-11433200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:11432000-11433200	Enhancers	Aorta	Aorta
34	chr6:11432000-11433600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:11432000-11433800	Enhancers	NHLF	lung
36	chr6:11432000-11435400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:11432000-11436000	Weak transcription	Lung	lung
38	chr6:11432200-11433000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:11432200-11434000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:11432200-11434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:11432200-11435600	Enhancers	HMEC	breast
42	chr6:11432400-11433600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:11432400-11433800	Enhancers	Stomach Mucosa	stomach
44	chr6:11432400-11435400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:11432400-11435400	Enhancers	NHEK	skin
46	chr6:11432600-11433000	Enhancers	A549	lung
47	chr6:11432600-11433600	Enhancers	Osteobl	bone
48	chr6:11432600-11433800	Weak transcription	Fetal Intestine Large	intestine
49	chr6:11432600-11434200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:11432600-11434200	Weak transcription	Placenta	Placenta

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