Variant report

Variant	rs7597191
Chromosome Location	chr2:113345242-113345243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:61731489..61731998-chr2:113344986..113345618,2	Hela-S3	cervix:
2	chr2:113344320..113346442-chr2:113363758..113365916,2	MCF-7	breast:
3	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
4	chr2:113344573..113346369-chr2:113402974..113405515,2	MCF-7	breast:
5	chr2:113343775..113346140-chr2:113450696..113453641,2	K562	blood:
6	chr2:113344897..113346779-chr2:113377975..113380310,2	MCF-7	breast:
7	chr2:113343268..113345450-chr2:113354947..113357847,2	K562	blood:

Variant related genes	Relation type
ENSG00000231747	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000144130	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17040306	1.00[AMR][1000 genomes]
rs17042289	1.00[AMR][1000 genomes]
rs17042293	1.00[AMR][1000 genomes]
rs17042296	1.00[AMR][1000 genomes]
rs17042298	1.00[AMR][1000 genomes]
rs55712130	1.00[AMR][1000 genomes]
rs55900444	1.00[AMR][1000 genomes]
rs56152754	1.00[AMR][1000 genomes]
rs60255523	1.00[AMR][1000 genomes]
rs72952103	1.00[AMR][1000 genomes]
rs73955242	1.00[AMR][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	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113342800-113346000	Weak transcription	Aorta	Aorta
2	chr2:113343000-113345800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:113343000-113348600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:113343000-113348800	Genic enhancers	Fetal Muscle Leg	muscle
5	chr2:113343000-113349400	Enhancers	Pancreas	Pancrea
6	chr2:113343000-113350000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:113343200-113345400	Weak transcription	Osteobl	bone
8	chr2:113343200-113345800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:113343200-113345800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:113343200-113345800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:113343200-113345800	Weak transcription	HSMM	muscle
12	chr2:113343200-113346200	Weak transcription	HUVEC	blood vessel
13	chr2:113343200-113348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:113343200-113349000	Weak transcription	Colonic Mucosa	Colon
15	chr2:113343200-113353000	Weak transcription	NH-A	brain
16	chr2:113343200-113357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:113343200-113357400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:113343200-113357400	Weak transcription	A549	lung
19	chr2:113343200-113357400	Weak transcription	HMEC	breast
20	chr2:113343200-113357400	Weak transcription	NHDF-Ad	bronchial
21	chr2:113343400-113345400	Weak transcription	Hela-S3	cervix
22	chr2:113343400-113345800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:113343400-113346800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:113343400-113349600	Strong transcription	Primary T cells from cord blood	blood
25	chr2:113343400-113357400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:113343600-113345400	Weak transcription	Small Intestine	intestine
27	chr2:113343600-113345600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:113343600-113347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:113343600-113347600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:113343600-113348400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:113343600-113348800	Strong transcription	Fetal Stomach	stomach
32	chr2:113343600-113349000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:113343600-113349400	Strong transcription	Fetal Intestine Large	intestine
34	chr2:113343600-113357400	Weak transcription	K562	blood
35	chr2:113343600-113357600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:113343800-113345800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:113343800-113345800	Strong transcription	Adipose Nuclei	Adipose
38	chr2:113343800-113346000	Strong transcription	Brain Angular Gyrus	brain
39	chr2:113343800-113346000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr2:113343800-113346000	Strong transcription	Spleen	Spleen
41	chr2:113343800-113346200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:113343800-113346400	Strong transcription	Brain Anterior Caudate	brain
43	chr2:113343800-113346400	Genic enhancers	Placenta	Placenta
44	chr2:113343800-113346800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:113343800-113346800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:113343800-113346800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:113343800-113346800	Strong transcription	NHLF	lung
48	chr2:113343800-113347000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:113343800-113347200	Strong transcription	NHEK	skin
50	chr2:113343800-113347400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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