Variant report

Variant	rs7974103
Chromosome Location	chr12:57013844-57013845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57007576..57011476-chr12:57012265..57014896,4	K562	blood:
2	chr12:57006227..57008804-chr12:57012388..57014898,2	MCF-7	breast:
3	chr12:57008148..57010026-chr12:57012306..57015125,2	MCF-7	breast:
4	chr12:57009522..57015507-chr12:57021199..57030351,9	MCF-7	breast:
5	chr12:57004812..57007762-chr12:57013196..57018019,5	MCF-7	breast:
6	chr12:57012523..57015278-chr12:57016203..57018882,3	K562	blood:

Variant related genes	Relation type
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10876912	0.84[EUR][1000 genomes]
rs11171909	0.85[GIH][hapmap];0.84[EUR][1000 genomes]
rs11171910	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs11829496	0.82[EUR][1000 genomes]
rs11831054	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833209	0.92[YRI][hapmap]
rs11837790	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];0.81[MKK][hapmap];0.92[YRI][hapmap]
rs11838315	0.82[EUR][1000 genomes]
rs12312913	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs12314491	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs12321649	0.84[EUR][1000 genomes]
rs1527140	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17118865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118901	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs17118921	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17118953	0.89[ASW][hapmap];0.85[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap]
rs17444925	0.91[EUR][1000 genomes]
rs17541679	0.91[EUR][1000 genomes]
rs1800638	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2030909	1.00[CEU][hapmap]
rs2470385	0.83[GIH][hapmap]
rs4262757	0.82[EUR][1000 genomes]
rs55962252	0.82[EUR][1000 genomes]
rs57406430	1.00[EUR][1000 genomes]
rs59711560	0.84[EUR][1000 genomes]
rs60574031	0.82[EUR][1000 genomes]
rs7136370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7307573	0.82[EUR][1000 genomes]
rs7307578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091637	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095026	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954160	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956952	0.91[EUR][1000 genomes]
rs7958515	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974600	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977632	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941210	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs9738534	0.84[EUR][1000 genomes]

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	nsv525202	chr12:57004668-57013844	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv438212	chr12:57013844-57015133	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
2	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
3	chr12:56987600-57014800	Strong transcription	Adipose Nuclei	Adipose
4	chr12:56987600-57021000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:56988200-57015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:56988400-57016600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:56988400-57017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:56988400-57018000	Strong transcription	Fetal Intestine Small	intestine
9	chr12:56988400-57018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:56988400-57021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56988600-57017200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:56988800-57015200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:56988800-57017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:56988800-57021600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:56989000-57017600	Strong transcription	Fetal Intestine Large	intestine
16	chr12:56989400-57019000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:56989400-57020000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:56989600-57017400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:56989800-57014800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:56990400-57016600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:56990600-57016400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:56990800-57014000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:56990800-57016600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:56991000-57018000	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:56991000-57022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:56991400-57015000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:56991400-57015000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:56991600-57015000	Strong transcription	Fetal Lung	lung
29	chr12:56991600-57017000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:56991600-57018200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:56992000-57015600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:56994200-57021200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:56995000-57021400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:56996400-57016200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:56996600-57016800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:57002600-57016200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:57002800-57015200	Strong transcription	NHEK	skin
38	chr12:57003000-57015000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:57003000-57015400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:57003000-57016800	Strong transcription	Primary B cells from cord blood	blood
41	chr12:57003200-57017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:57006200-57017800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:57009000-57017000	Weak transcription	Psoas Muscle	Psoas
44	chr12:57009800-57022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:57010400-57022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:57010800-57014800	Weak transcription	Fetal Kidney	kidney
47	chr12:57010800-57022000	Weak transcription	Small Intestine	intestine
48	chr12:57011000-57014000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:57011000-57014600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:57011000-57015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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