Variant report

Variant	rs193224259
Chromosome Location	chr2:11879128-11879129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11872902..11874772-chr2:11878776..11881694,2	K562	blood:
2	chr2:11878418..11879254-chr2:11919121..11919879,2	MCF-7	breast:
3	chr2:11878641..11879395-chr2:11919018..11919604,3	K562	blood:
4	chr2:11878332..11879441-chr2:11918884..11919993,17	MCF-7	breast:
5	chr2:11872902..11875689-chr2:11878776..11880592,2	K562	blood:
6	chr2:11850515..11852161-chr2:11877592..11880491,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528398	chr2:11879105-11879174	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11875200-11883000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:11877000-11882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:11877000-11883400	Weak transcription	Right Atrium	heart
4	chr2:11878400-11879200	Enhancers	Right Ventricle	heart
5	chr2:11878400-11879400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:11878400-11879600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:11878400-11880000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:11878600-11879200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:11878600-11879200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:11878600-11879200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:11878600-11879200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:11878600-11879200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:11878600-11879200	Enhancers	Ovary	ovary
14	chr2:11878600-11879200	Enhancers	Psoas Muscle	Psoas
15	chr2:11878600-11879200	Enhancers	Stomach Mucosa	stomach
16	chr2:11878600-11879200	Flanking Active TSS	Hela-S3	cervix
17	chr2:11878600-11879400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:11878600-11879400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11878600-11879400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:11878600-11879400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:11878600-11879400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:11878600-11879400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:11878600-11879400	Enhancers	HMEC	breast
24	chr2:11878600-11879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:11878600-11879600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:11878600-11879600	Enhancers	Liver	Liver
27	chr2:11878600-11879600	Enhancers	Placenta	Placenta
28	chr2:11878600-11879600	Enhancers	A549	lung
29	chr2:11878600-11879600	Enhancers	Osteobl	bone
30	chr2:11878600-11879800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:11878600-11879800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:11878600-11879800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:11878600-11879800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:11878600-11879800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:11878600-11879800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:11878600-11879800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:11878600-11879800	Enhancers	NHLF	lung
38	chr2:11878600-11880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:11878600-11880400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:11878800-11879200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:11878800-11879200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:11878800-11879200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:11878800-11879200	Enhancers	Brain Hippocampus Middle	brain
44	chr2:11878800-11879200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:11878800-11879200	Enhancers	Fetal Lung	lung
46	chr2:11878800-11879400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:11878800-11879400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:11878800-11879400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:11878800-11879400	Enhancers	Adipose Nuclei	Adipose
50	chr2:11878800-11879400	Enhancers	Brain Anterior Caudate	brain

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