Variant report

Variant	rs10774512
Chromosome Location	chr12:120125240-120125241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:
2	chr12:120122749..120126442-chr12:120127143..120130647,6	K562	blood:

Variant related genes	Relation type
ENSG00000111725	Chromatin interaction
ENSG00000248636	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12309592	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1985793	0.83[ASN][1000 genomes]
rs2393549	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2393550	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278124	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2893806	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4767838	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490264	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490265	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953776	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7969977	0.80[EUR][1000 genomes];0.82[ASN][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	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120112600-120130400	Weak transcription	Right Atrium	heart
3	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
4	chr12:120117000-120145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:120119200-120125800	Enhancers	Fetal Kidney	kidney
6	chr12:120119200-120130200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:120119200-120135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120119200-120141200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:120119600-120130200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:120119600-120147000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:120119800-120125400	Weak transcription	Hela-S3	cervix
12	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
13	chr12:120120000-120129600	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:120120000-120135000	Weak transcription	Esophagus	oesophagus
15	chr12:120120000-120135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:120120200-120148000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:120120400-120126800	Enhancers	Duodenum Mucosa	Duodenum
18	chr12:120120400-120129400	Weak transcription	HSMM	muscle
19	chr12:120120400-120130200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:120120400-120137200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:120120400-120145600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:120120600-120128400	Weak transcription	K562	blood
23	chr12:120120800-120126400	Enhancers	Fetal Muscle Leg	muscle
24	chr12:120120800-120137600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:120121000-120125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:120121000-120151800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:120121200-120125400	Weak transcription	GM12878-XiMat	blood
28	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
29	chr12:120121400-120130400	Weak transcription	NH-A	brain
30	chr12:120121600-120129400	Weak transcription	HUVEC	blood vessel
31	chr12:120122000-120129400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:120122200-120130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:120122400-120126800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr12:120122400-120127000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:120123200-120126200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:120123200-120128400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:120123400-120126600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr12:120123400-120128800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:120123400-120136200	Strong transcription	Thymus	Thymus
41	chr12:120123400-120182000	Strong transcription	Dnd41	blood
42	chr12:120123600-120126200	Enhancers	Adipose Nuclei	Adipose
43	chr12:120123600-120127200	Weak transcription	Osteobl	bone
44	chr12:120123600-120129000	Weak transcription	Small Intestine	intestine
45	chr12:120123600-120130400	Weak transcription	Psoas Muscle	Psoas
46	chr12:120123600-120132200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:120123800-120125400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr12:120123800-120126000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:120123800-120126400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:120124000-120126400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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