Variant report

Variant	rs11961948
Chromosome Location	chr6:128661340-128661341
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	chr6:128660307..128662449-chr6:128682596..128686708,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10485162	1.00[AMR][1000 genomes]
rs11962332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055461	1.00[AMR][1000 genomes]
rs1856497	1.00[AMR][1000 genomes]
rs4895832	1.00[AMR][1000 genomes]
rs6904846	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6905735	1.00[AMR][1000 genomes]
rs6931593	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7746423	1.00[AMR][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	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128632200-128665200	Weak transcription	Gastric	stomach
2	chr6:128635600-128672000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:128641400-128661400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:128649200-128661400	Weak transcription	Pancreas	Pancrea
5	chr6:128649200-128665600	Weak transcription	Left Ventricle	heart
6	chr6:128649400-128671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:128649400-128678600	Weak transcription	HSMM	muscle
8	chr6:128649600-128661600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:128656400-128661400	Enhancers	Colon Smooth Muscle	Colon
10	chr6:128657800-128667800	Weak transcription	Fetal Kidney	kidney
11	chr6:128658800-128661400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:128659800-128661600	Enhancers	Fetal Intestine Small	intestine
13	chr6:128659800-128671400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:128660000-128666200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:128660000-128667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:128660000-128667800	Weak transcription	Ovary	ovary
17	chr6:128660400-128661400	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:128660400-128661600	Enhancers	Fetal Intestine Large	intestine
19	chr6:128660600-128661400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:128660600-128661400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:128660600-128661400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:128660600-128661400	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:128660600-128661600	Flanking Active TSS	Liver	Liver
24	chr6:128660600-128661800	Enhancers	Fetal Brain Male	brain
25	chr6:128660600-128661800	Enhancers	Fetal Heart	heart
26	chr6:128660600-128661800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr6:128660600-128662800	Enhancers	Fetal Lung	lung
28	chr6:128660800-128661600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr6:128660800-128661600	Enhancers	Adipose Nuclei	Adipose
30	chr6:128660800-128661600	Enhancers	Psoas Muscle	Psoas
31	chr6:128660800-128661600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:128660800-128661600	Enhancers	Small Intestine	intestine
33	chr6:128660800-128661600	Flanking Active TSS	HepG2	liver
34	chr6:128660800-128661600	Enhancers	HSMMtube	muscle
35	chr6:128660800-128661800	Enhancers	Stomach Mucosa	stomach
36	chr6:128660800-128661800	Enhancers	NHDF-Ad	bronchial
37	chr6:128661000-128661400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:128661000-128661600	Enhancers	Brain Hippocampus Middle	brain
39	chr6:128661000-128661600	Enhancers	Brain Substantia Nigra	brain
40	chr6:128661000-128661600	Enhancers	A549	lung
41	chr6:128661000-128661600	Enhancers	Osteobl	bone
42	chr6:128661200-128661400	Enhancers	NHLF	lung
43	chr6:128661200-128661600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:128661200-128661600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:128661200-128661800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:128661200-128661800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr6:128661200-128664400	Weak transcription	Fetal Stomach	stomach
48	chr6:128661200-128665200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:128661200-128667800	Weak transcription	Brain Anterior Caudate	brain

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