Variant report

Variant	rs11169099
Chromosome Location	chr12:50064074-50064075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50062633..50068951-chr12:50134385..50140154,8	K562	blood:
2	chr12:50059879..50062225-chr12:50063774..50067547,4	K562	blood:
3	chr12:50055936..50058449-chr12:50062400..50065896,4	K562	blood:
4	chr12:50058474..50062820-chr12:50063991..50067805,5	MCF-7	breast:
5	chr12:50049323..50052175-chr12:50062638..50064561,2	K562	blood:

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11169074	0.87[AFR][1000 genomes]
rs12298155	1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12302063	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12305096	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12310796	1.00[YRI][hapmap]
rs12315713	0.87[AFR][1000 genomes]
rs12322692	1.00[YRI][hapmap]
rs7133106	1.00[YRI][hapmap]
rs7135265	1.00[ASW][hapmap];0.85[MKK][hapmap];1.00[AFR][1000 genomes]
rs7974626	0.87[AFR][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	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
4	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
6	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
7	chr12:50057400-50066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:50057600-50064400	Weak transcription	Gastric	stomach
9	chr12:50057600-50064400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:50057600-50064400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:50057600-50064800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:50057600-50065000	Weak transcription	Pancreas	Pancrea
13	chr12:50057600-50065200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:50057600-50066000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:50057600-50066200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:50057600-50066400	Weak transcription	Aorta	Aorta
17	chr12:50057600-50066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:50057600-50067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:50057600-50067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:50057600-50067200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:50057800-50066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:50058400-50064400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:50058400-50066000	Weak transcription	Esophagus	oesophagus
24	chr12:50058400-50067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:50058800-50064600	Weak transcription	K562	blood
26	chr12:50058800-50066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:50059000-50064200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:50059000-50065000	Weak transcription	HMEC	breast
29	chr12:50059000-50065400	Weak transcription	NHLF	lung
30	chr12:50059000-50066200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:50059000-50066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:50059200-50064200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:50059200-50064400	Weak transcription	Stomach Mucosa	stomach
34	chr12:50059200-50064600	Weak transcription	Fetal Heart	heart
35	chr12:50059600-50064400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:50059600-50065000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:50060000-50064200	Weak transcription	Liver	Liver
38	chr12:50060000-50064800	Weak transcription	HSMM	muscle
39	chr12:50060000-50065400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:50060000-50066000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:50060000-50066600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:50060200-50064400	Weak transcription	Placenta	Placenta
43	chr12:50060200-50064600	Weak transcription	Small Intestine	intestine
44	chr12:50060400-50064200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr12:50060400-50064400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:50060400-50069400	Enhancers	Fetal Thymus	thymus
47	chr12:50060800-50064800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:50060800-50065400	Weak transcription	Brain Germinal Matrix	brain
49	chr12:50061000-50064200	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:50061000-50065000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links