Variant report

Variant	rs7587117
Chromosome Location	chr2:74448655-74448656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74446879..74448831-chr2:74595217..74597589,2	K562	blood:
2	chr2:74447215..74450146-chr2:74463449..74466578,3	K562	blood:
3	chr2:74447215..74450146-chr2:74463449..74465120,2	K562	blood:
4	chr2:74446614..74449007-chr2:74477377..74479575,2	K562	blood:
5	chr2:74448137..74451708-chr2:74452430..74455928,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204843	Chromatin interaction
ENSG00000188687	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10177833	0.80[CEU][hapmap]
rs12053233	0.95[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12196	1.00[CHB][hapmap]
rs13006863	0.89[ASW][hapmap];0.95[CEU][hapmap];0.85[GIH][hapmap];0.85[LWK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13034587	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1723285	1.00[CHB][hapmap]
rs3108164	1.00[CHB][hapmap]
rs34481365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4853018	0.86[YRI][hapmap]
rs702462	0.89[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.84[AFR][1000 genomes]
rs7340453	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap]
rs7579359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs828858	1.00[CHB][hapmap]

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	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
2	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS 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 target site	81 gene(s)	inside rSNPs	diseases
3	esv3401140	chr2:74439333-74533696	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3380034	chr2:74439354-74533666	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74427400-74453000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:74427400-74453200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:74427400-74460200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:74427400-74462000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:74427400-74484400	Weak transcription	Fetal Lung	lung
6	chr2:74427800-74494200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:74428600-74449600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:74429000-74450600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:74429000-74453200	Weak transcription	Ovary	ovary
10	chr2:74429200-74452800	Weak transcription	Fetal Heart	heart
11	chr2:74433800-74449200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:74433800-74449200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:74433800-74449400	Strong transcription	NHEK	skin
14	chr2:74433800-74449600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:74433800-74449800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:74433800-74461800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:74434000-74453000	Weak transcription	Psoas Muscle	Psoas
18	chr2:74434200-74449400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:74434200-74449800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:74434600-74448800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:74434800-74449000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:74434800-74449400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:74434800-74449600	Strong transcription	A549	lung
24	chr2:74435200-74449000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:74435400-74449400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:74435600-74450000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:74435800-74454000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:74436000-74450400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:74436000-74453000	Weak transcription	Stomach Mucosa	stomach
30	chr2:74437000-74449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:74437600-74453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:74439000-74449400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:74439200-74453800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:74439800-74525200	Weak transcription	Fetal Brain Male	brain
35	chr2:74441000-74458600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:74441800-74453000	Weak transcription	Gastric	stomach
37	chr2:74441800-74453000	Weak transcription	Pancreas	Pancrea
38	chr2:74441800-74453800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:74441800-74453800	Weak transcription	Esophagus	oesophagus
40	chr2:74441800-74458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:74441800-74466000	Weak transcription	Adipose Nuclei	Adipose
42	chr2:74441800-74490400	Weak transcription	Fetal Brain Female	brain
43	chr2:74442200-74450400	Weak transcription	NHDF-Ad	bronchial
44	chr2:74442200-74453200	Weak transcription	Placenta	Placenta
45	chr2:74442400-74455000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:74442400-74477400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:74442800-74465200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:74443400-74460600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:74444200-74456200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:74444400-74449200	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links