Variant report

Variant	rs12321649
Chromosome Location	chr12:57015133-57015134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57011192..57013564-chr12:57014925..57017700,3	K562	blood:
2	chr12:56973940..56975962-chr12:57014825..57017431,2	MCF-7	breast:
3	chr12:57009522..57015507-chr12:57021199..57030351,9	MCF-7	breast:
4	chr12:57004812..57007762-chr12:57013196..57018019,5	MCF-7	breast:
5	chr12:57014744..57016426-chr12:57019361..57021308,2	K562	blood:
6	chr12:57012523..57015278-chr12:57016203..57018882,3	K562	blood:

Variant related genes	Relation type
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10876912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11171910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831054	0.84[EUR][1000 genomes]
rs12296335	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12312913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1527140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118865	0.84[EUR][1000 genomes]
rs17118901	0.84[EUR][1000 genomes]
rs1800638	0.84[EUR][1000 genomes]
rs57406430	0.84[EUR][1000 genomes]
rs59711560	1.00[EUR][1000 genomes]
rs7136370	0.84[EUR][1000 genomes]
rs7307578	0.84[EUR][1000 genomes]
rs74091637	0.84[EUR][1000 genomes]
rs74095026	0.84[EUR][1000 genomes]
rs7954160	0.84[EUR][1000 genomes]
rs7958515	0.84[EUR][1000 genomes]
rs7958539	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7974103	0.84[EUR][1000 genomes]
rs7974600	0.84[EUR][1000 genomes]
rs7977632	0.84[EUR][1000 genomes]
rs941210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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	chr12:56987600-57021000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:56988200-57015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:56988400-57016600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:56988400-57017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:56988400-57018000	Strong transcription	Fetal Intestine Small	intestine
8	chr12:56988400-57018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:56988400-57021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56988600-57017200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:56988800-57015200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr12:56988800-57017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:56988800-57021600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:56989000-57017600	Strong transcription	Fetal Intestine Large	intestine
15	chr12:56989400-57019000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:56989400-57020000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:56989600-57017400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:56990400-57016600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:56990600-57016400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr12:56990800-57016600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:56991000-57018000	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:56991000-57022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:56991600-57017000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:56991600-57018200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:56992000-57015600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:56994200-57021200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:56995000-57021400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:56996400-57016200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:56996600-57016800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:57002600-57016200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:57002800-57015200	Strong transcription	NHEK	skin
32	chr12:57003000-57015400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:57003000-57016800	Strong transcription	Primary B cells from cord blood	blood
34	chr12:57003200-57017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:57006200-57017800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:57009000-57017000	Weak transcription	Psoas Muscle	Psoas
37	chr12:57009800-57022200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:57010400-57022200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:57010800-57022000	Weak transcription	Small Intestine	intestine
40	chr12:57011000-57015600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:57011000-57017600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:57011000-57021400	Weak transcription	Fetal Brain Male	brain
43	chr12:57011200-57017200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:57011200-57017400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:57011200-57017600	Weak transcription	Pancreas	Pancrea
46	chr12:57011400-57015200	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:57011400-57016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:57011400-57017000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:57011400-57017200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:57011400-57017400	Weak transcription	Brain Hippocampus Middle	brain

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