Variant report

Variant	rs187195464
Chromosome Location	chr2:11583535-11583536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11582548..11585072-chr2:11589512..11591069,2	K562	blood:
2	chr2:11578661..11580841-chr2:11582473..11584908,4	MCF-7	breast:
3	chr2:11583321..11585484-chr2:11620633..11622396,2	MCF-7	breast:
4	chr2:11578835..11581557-chr2:11582606..11584299,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3460094	chr2:11583401-11588699	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
4	esv3460095	chr2:11583401-11588699	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
2	chr2:11560400-11584000	Weak transcription	Aorta	Aorta
3	chr2:11563000-11583800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:11563000-11586800	Weak transcription	Psoas Muscle	Psoas
5	chr2:11572400-11583800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:11572600-11588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11575000-11584800	Weak transcription	Esophagus	oesophagus
8	chr2:11575200-11584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:11575400-11583800	Weak transcription	Osteobl	bone
10	chr2:11575600-11584000	Weak transcription	Right Ventricle	heart
11	chr2:11575600-11586800	Weak transcription	NHEK	skin
12	chr2:11575800-11584000	Weak transcription	HMEC	breast
13	chr2:11575800-11597000	Weak transcription	Fetal Heart	heart
14	chr2:11576000-11586800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:11576400-11583800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:11576600-11586600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:11576800-11583600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:11576800-11585000	Weak transcription	Hela-S3	cervix
19	chr2:11576800-11586600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:11577000-11589200	Weak transcription	Small Intestine	intestine
21	chr2:11577400-11584400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11577600-11585000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
24	chr2:11577800-11586600	Weak transcription	NHDF-Ad	bronchial
25	chr2:11578200-11583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:11578200-11584200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:11578200-11585200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:11578400-11583800	Weak transcription	HUVEC	blood vessel
29	chr2:11578600-11585000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:11578600-11587200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:11578600-11594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:11578800-11584200	Weak transcription	HSMM	muscle
33	chr2:11579000-11584200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:11579000-11585000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:11579000-11586800	Weak transcription	Stomach Mucosa	stomach
36	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:11579200-11585600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:11579200-11594000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:11579400-11587200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:11579800-11590600	Strong transcription	Primary T cells from cord blood	blood
41	chr2:11580000-11585000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11580000-11585600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:11580000-11586600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:11580000-11593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:11580200-11588400	Weak transcription	Fetal Kidney	kidney
46	chr2:11580200-11588600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
48	chr2:11580400-11583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:11580400-11584000	Weak transcription	NHLF	lung
50	chr2:11580400-11585200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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