Variant report

Variant	rs2605378
Chromosome Location	chr12:74937451-74937452
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:74934644..74937630-chr12:74950063..74952451,3	MCF-7	breast:
2	chr12:74819585..74822514-chr12:74935420..74937697,2	K562	blood:
3	chr12:74936725..74942637-chr12:74943509..74950364,10	MCF-7	breast:
4	chr12:74936849..74938851-chr12:74961642..74963364,2	MCF-7	breast:
5	chr12:74933499..74938752-chr12:74938991..74943644,10	K562	blood:
6	chr12:74934893..74937822-chr12:74975475..74977928,2	MCF-7	breast:
7	chr12:74920482..74922543-chr12:74935619..74938584,2	MCF-7	breast:
8	chr12:74929601..74933992-chr12:74933997..74938801,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253719	Chromatin interaction
ENSG00000257386	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10506696	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298502	0.89[EUR][1000 genomes]
rs1389488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113550	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17179283	1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17179465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17772239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2613898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4550284	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5002508	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv470303	chr12:74880668-74945356	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	n/a
5	nsv899296	chr12:74880668-74974630	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74933800-74942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:74934200-74942000	Weak transcription	Ovary	ovary
3	chr12:74934400-74938400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:74934600-74937600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:74934600-74937600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:74934600-74940800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:74935200-74937600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:74935200-74938200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:74935200-74940800	Weak transcription	Pancreas	Pancrea
10	chr12:74935200-74941000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:74935200-74941800	Weak transcription	Thymus	Thymus
12	chr12:74935200-74942200	Weak transcription	Psoas Muscle	Psoas
13	chr12:74935200-74942600	Weak transcription	Small Intestine	intestine
14	chr12:74935200-74943600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:74935200-74945000	Weak transcription	Left Ventricle	heart
16	chr12:74935400-74942600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:74935600-74937600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:74935600-74937600	Weak transcription	HUVEC	blood vessel
19	chr12:74935600-74937800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr12:74935600-74938000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:74935600-74939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:74935600-74941000	Weak transcription	Fetal Stomach	stomach
23	chr12:74935600-74941400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:74935600-74942000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:74935600-74942400	Weak transcription	NHDF-Ad	bronchial
26	chr12:74935600-74943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:74935800-74939400	Weak transcription	A549	lung
28	chr12:74935800-74940400	Weak transcription	Hela-S3	cervix
29	chr12:74935800-74941000	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:74935800-74942800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:74936000-74937600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:74936000-74937600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:74936000-74937800	Strong transcription	HSMM	muscle
34	chr12:74936000-74938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:74936000-74942200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:74936000-74942400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:74936000-74942600	Weak transcription	Fetal Intestine Large	intestine
38	chr12:74936000-74945600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:74936200-74939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:74936200-74940000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:74936200-74940200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:74936200-74940800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:74936200-74941200	Weak transcription	Fetal Thymus	thymus
44	chr12:74936200-74942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:74936200-74943600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:74936400-74938000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:74936400-74938000	Weak transcription	HepG2	liver
48	chr12:74936400-74938000	Weak transcription	NHEK	skin
49	chr12:74936400-74938600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:74936400-74939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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