Variant report

Variant	rs11608681
Chromosome Location	chr12:117381861-117381862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117313964..117316353-chr12:117381200..117383712,2	MCF-7	breast:
2	chr12:117174363..117175916-chr12:117381728..117384041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135116	Chromatin interaction
ENSG00000111412	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10507276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850736	0.91[EUR][1000 genomes]
rs11608609	0.91[EUR][1000 genomes]
rs11609741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11609917	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11610984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11614947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11615600	0.82[JPT][hapmap]
rs12819203	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs17501253	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2062529	0.85[JPT][hapmap]
rs3741465	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6490100	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301877	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7976384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978495	0.92[EUR][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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
2	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
3	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
5	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:117366600-117383200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:117366600-117388400	Weak transcription	K562	blood
11	chr12:117367800-117382800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:117368000-117383200	Weak transcription	Hela-S3	cervix
13	chr12:117368000-117383400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:117368200-117383000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:117369800-117383200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:117370000-117382000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:117371400-117383400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:117371400-117383400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:117372400-117383000	Weak transcription	NH-A	brain
20	chr12:117373000-117383200	Weak transcription	Fetal Brain Male	brain
21	chr12:117373400-117383200	Weak transcription	Right Ventricle	heart
22	chr12:117373800-117393200	Weak transcription	Stomach Mucosa	stomach
23	chr12:117374200-117382200	Weak transcription	Right Atrium	heart
24	chr12:117374400-117385600	Weak transcription	NHDF-Ad	bronchial
25	chr12:117375000-117383200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:117375200-117382800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:117375400-117383200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:117375600-117383200	Weak transcription	Gastric	stomach
29	chr12:117376400-117383200	Weak transcription	Fetal Kidney	kidney
30	chr12:117376800-117383200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:117378000-117383200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:117378000-117383400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:117378000-117392600	Weak transcription	Psoas Muscle	Psoas
34	chr12:117378800-117382400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:117379000-117382400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:117379200-117383200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:117379400-117382400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:117379600-117383200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:117379800-117382200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:117379800-117382400	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr12:117379800-117382600	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr12:117380200-117382000	ZNF genes & repeats	Fetal Stomach	stomach
43	chr12:117380800-117382000	ZNF genes & repeats	Dnd41	blood
44	chr12:117381000-117382200	ZNF genes & repeats	HSMMtube	muscle
45	chr12:117381000-117385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:117381200-117382000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:117381200-117382000	ZNF genes & repeats	GM12878-XiMat	blood
48	chr12:117381200-117382200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr12:117381200-117382400	ZNF genes & repeats	Thymus	Thymus
50	chr12:117381200-117382600	Enhancers	Left Ventricle	heart

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