Variant report

Variant	rs6490101
Chromosome Location	chr12:117402755-117402756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117394664..117397390-chr12:117400472..117403185,2	K562	blood:
2	chr12:117402720..117404919-chr12:117405242..117407229,2	MCF-7	breast:
3	chr12:117401492..117403135-chr12:117411916..117413854,2	K562	blood:
4	chr12:117395564..117397390-chr12:117400429..117403185,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10507278	1.00[JPT][hapmap]
rs12299065	1.00[JPT][hapmap]
rs16947275	1.00[JPT][hapmap]
rs2173653	1.00[JPT][hapmap]
rs2270794	1.00[JPT][hapmap]
rs3782193	1.00[JPT][hapmap]
rs4238051	1.00[JPT][hapmap]
rs4767452	1.00[JPT][hapmap]
rs4767473	1.00[JPT][hapmap]
rs4767490	1.00[JPT][hapmap]
rs56887440	0.81[ASN][1000 genomes]
rs7302025	1.00[JPT][hapmap]
rs7307907	1.00[JPT][hapmap]
rs7957907	1.00[JPT][hapmap]
rs7960610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967445	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7979277	1.00[JPT][hapmap]
rs9804817	1.00[JPT][hapmap]
rs987560	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
7	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
11	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:117386000-117402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:117386000-117404200	Weak transcription	HepG2	liver
14	chr12:117386000-117405000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:117387800-117404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:117387800-117407000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:117387800-117407400	Weak transcription	Aorta	Aorta
18	chr12:117387800-117463600	Weak transcription	HMEC	breast
19	chr12:117388000-117402800	Weak transcription	NHDF-Ad	bronchial
20	chr12:117389800-117402800	Weak transcription	NH-A	brain
21	chr12:117393000-117407600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:117393800-117403000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
24	chr12:117394600-117415400	Weak transcription	HSMMtube	muscle
25	chr12:117396600-117402800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:117396600-117402800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:117397000-117402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
29	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
30	chr12:117397200-117410400	Weak transcription	Pancreas	Pancrea
31	chr12:117397600-117403400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:117398000-117402800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:117398000-117409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:117398200-117417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:117399400-117403400	Strong transcription	Spleen	Spleen
36	chr12:117399400-117403600	Enhancers	Dnd41	blood
37	chr12:117399800-117405200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:117400000-117404600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:117400400-117404800	Strong transcription	Fetal Intestine Small	intestine
40	chr12:117400400-117412000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:117400400-117417800	Weak transcription	K562	blood
42	chr12:117400600-117402800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:117400600-117405400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr12:117400600-117405600	Strong transcription	HSMM	muscle
45	chr12:117400600-117406400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:117400600-117407200	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:117400600-117407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:117400800-117403000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:117400800-117403400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:117400800-117405800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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