Variant report

Variant	rs7572157
Chromosome Location	chr2:99812108-99812109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99810136..99812314-chr2:99813420..99815109,2	MCF-7	breast:
2	chr2:99796625..99803903-chr2:99808531..99815139,9	K562	blood:
3	chr2:99810647..99812368-chr2:99815274..99817789,3	MCF-7	breast:
4	chr2:99797117..99800134-chr2:99810699..99813384,3	K562	blood:
5	chr2:99756535..99759812-chr2:99809729..99812870,3	MCF-7	breast:
6	chr2:99808671..99812462-chr2:99812469..99815885,5	K562	blood:
7	chr2:99811588..99813232-chr2:99816607..99818159,2	K562	blood:

Variant related genes	Relation type
ENSG00000158411	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000241962	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11123773	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053184	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12053292	1.00[ASN][1000 genomes]
rs41280587	0.84[EUR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99798600-99814000	Weak transcription	Right Ventricle	heart
2	chr2:99798600-99814800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:99798600-99815200	Weak transcription	Esophagus	oesophagus
4	chr2:99798600-99822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:99798600-99836400	Weak transcription	Small Intestine	intestine
6	chr2:99798800-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:99798800-99825600	Weak transcription	Fetal Heart	heart
8	chr2:99799200-99813000	Weak transcription	HUVEC	blood vessel
9	chr2:99799200-99824200	Weak transcription	Fetal Brain Male	brain
10	chr2:99799600-99812600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:99799600-99814200	Weak transcription	NHLF	lung
12	chr2:99799800-99814400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:99799800-99816800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:99800400-99816400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:99801600-99812600	Weak transcription	Pancreas	Pancrea
16	chr2:99802600-99817000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:99803000-99814200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:99803000-99814400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:99803000-99815200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:99803000-99815800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:99803000-99818400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:99803400-99815200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:99803400-99815200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:99803400-99815200	Strong transcription	Adipose Nuclei	Adipose
25	chr2:99803400-99815400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:99803400-99815600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:99803400-99815600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:99803400-99816200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:99803600-99818400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:99803800-99829600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:99804600-99815600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:99804600-99815600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:99804800-99815000	Strong transcription	Dnd41	blood
34	chr2:99805400-99814800	Strong transcription	HepG2	liver
35	chr2:99805400-99815400	Strong transcription	HSMM	muscle
36	chr2:99805800-99814600	Weak transcription	Psoas Muscle	Psoas
37	chr2:99806000-99812800	Weak transcription	Brain Substantia Nigra	brain
38	chr2:99806000-99820000	Weak transcription	Colonic Mucosa	Colon
39	chr2:99806200-99815200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:99806400-99813600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:99807000-99815400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:99807000-99832600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:99807400-99813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:99807600-99825000	Weak transcription	Stomach Mucosa	stomach
45	chr2:99807800-99815200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:99807800-99816200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:99808400-99812600	Weak transcription	GM12878-XiMat	blood
48	chr2:99809000-99812200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:99809000-99814000	Weak transcription	Ovary	ovary
50	chr2:99809800-99815000	Strong transcription	H1 Cell Line	embryonic stem cell

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