Variant report

Variant	rs214711
Chromosome Location	chr12:47618366-47618367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47494976..47499131-chr12:47617418..47620194,3	MCF-7	breast:
2	chr12:47473378..47475019-chr12:47616001..47619116,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs214694	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs214700	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214704	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2524344	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs832709	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs832741	0.84[JPT][hapmap]
rs866881	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
3	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47612400-47628400	Weak transcription	Placenta	Placenta
5	chr12:47615000-47618800	Enhancers	Fetal Intestine Large	intestine
6	chr12:47615200-47618600	Enhancers	Fetal Intestine Small	intestine
7	chr12:47616000-47619000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:47616200-47618600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:47616200-47619600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr12:47616400-47618600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:47616400-47618600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:47616400-47618600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:47616400-47618600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
14	chr12:47616400-47618600	Enhancers	Stomach Mucosa	stomach
15	chr12:47616600-47618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:47616600-47618600	Enhancers	Fetal Kidney	kidney
17	chr12:47616800-47618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:47616800-47618400	Enhancers	Fetal Stomach	stomach
19	chr12:47616800-47618600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:47616800-47618800	Enhancers	HSMMtube	muscle
21	chr12:47617000-47618600	Enhancers	Fetal Muscle Leg	muscle
22	chr12:47617000-47619000	Enhancers	Pancreas	Pancrea
23	chr12:47617200-47618600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:47617200-47619000	Active TSS	A549	lung
25	chr12:47617200-47619200	Active TSS	Ovary	ovary
26	chr12:47617200-47628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:47617200-47628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:47617200-47629000	Weak transcription	NHEK	skin
29	chr12:47617400-47625400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:47617600-47618400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:47617600-47618400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:47617600-47618600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:47617600-47618600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:47617600-47618600	Enhancers	HSMM	muscle
35	chr12:47617600-47626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:47617800-47618400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr12:47617800-47618400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:47617800-47618400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:47617800-47618400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:47617800-47618600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:47617800-47618600	Enhancers	HepG2	liver
42	chr12:47617800-47618800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:47617800-47619000	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr12:47617800-47620000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:47617800-47620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:47617800-47620400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:47617800-47621200	Weak transcription	Primary B cells from cord blood	blood
48	chr12:47617800-47624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:47617800-47626800	Weak transcription	Lung	lung
50	chr12:47617800-47628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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