Variant report

Variant	rs2967962
Chromosome Location	chr6:56605754-56605755
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	chr6:56593039..56595080-chr6:56605228..56607764,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2967958	1.00[AMR][1000 genomes]
rs2967959	1.00[AMR][1000 genomes]
rs41267677	1.00[AMR][1000 genomes]
rs6928319	1.00[AMR][1000 genomes]
rs7742007	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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56582600-56611600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:56590200-56607000	Weak transcription	Pancreas	Pancrea
3	chr6:56592800-56606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:56592800-56606800	Weak transcription	Aorta	Aorta
5	chr6:56592800-56611800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:56593200-56621200	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:56593400-56606800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:56594800-56607000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:56596400-56606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:56596400-56606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:56596400-56606800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:56597400-56606000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:56597800-56606000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:56598000-56606600	Weak transcription	Fetal Stomach	stomach
15	chr6:56598000-56607000	Weak transcription	Gastric	stomach
16	chr6:56598400-56606600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:56598400-56607000	Weak transcription	HUVEC	blood vessel
18	chr6:56599400-56607200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:56600600-56606000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:56600600-56606800	Weak transcription	NHDF-Ad	bronchial
21	chr6:56602200-56607000	Enhancers	Brain Hippocampus Middle	brain
22	chr6:56603000-56606200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:56603400-56607000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr6:56603600-56606800	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:56603600-56606800	Enhancers	Brain Substantia Nigra	brain
26	chr6:56604000-56606800	Enhancers	Brain Angular Gyrus	brain
27	chr6:56604200-56606000	Enhancers	Colon Smooth Muscle	Colon
28	chr6:56604600-56606200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:56604600-56606600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:56604600-56608400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:56604800-56605800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:56604800-56606000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:56604800-56606800	Enhancers	Brain Anterior Caudate	brain
34	chr6:56604800-56608400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:56604800-56610000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:56605000-56606000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:56605000-56606000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:56605000-56606000	Enhancers	GM12878-XiMat	blood
39	chr6:56605000-56606000	Enhancers	HMEC	breast
40	chr6:56605000-56606600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:56605000-56606800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:56605000-56606800	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:56605000-56607600	Enhancers	HSMMtube	muscle
44	chr6:56605000-56607800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:56605000-56608400	Enhancers	HSMM	muscle
46	chr6:56605000-56610200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:56605000-56613400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:56605200-56606400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:56605200-56606800	Enhancers	Osteobl	bone
50	chr6:56605200-56607000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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