Variant report

Variant	rs12581628
Chromosome Location	chr12:121732816-121732817
allele	C/T
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	chr12:121731583..121733176-chr12:121734919..121737416,2	K562	blood:
2	chr12:121684993..121686828-chr12:121732453..121734188,2	K562	blood:
3	chr12:121731476..121733834-chr12:121779944..121781697,2	MCF-7	breast:
4	chr12:121731746..121734589-chr12:121836434..121839785,3	K562	blood:
5	chr12:121731746..121735132-chr12:121837281..121839785,4	K562	blood:
6	chr12:121732234..121734700-chr12:121788857..121790730,2	K562	blood:
7	chr12:121730096..121733083-chr12:121733229..121736419,3	K562	blood:
8	chr12:121696462..121699185-chr12:121732816..121735056,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction
ENSG00000110931	Chromatin interaction
ENSG00000170633	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59373781	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300385	0.83[EUR][1000 genomes]
rs7965129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:121707400-121733200	Weak transcription	HSMM	muscle
4	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
5	chr12:121712400-121733000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:121712400-121733200	Weak transcription	Aorta	Aorta
7	chr12:121715600-121733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:121715600-121733000	Weak transcription	NHEK	skin
9	chr12:121717600-121733000	Weak transcription	Esophagus	oesophagus
10	chr12:121717600-121733000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:121717800-121733200	Weak transcription	NH-A	brain
12	chr12:121718000-121733000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:121720200-121733200	Weak transcription	Colonic Mucosa	Colon
14	chr12:121722800-121733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:121723600-121733000	Weak transcription	Pancreas	Pancrea
16	chr12:121725600-121733000	Weak transcription	NHLF	lung
17	chr12:121726200-121733200	Weak transcription	Psoas Muscle	Psoas
18	chr12:121726400-121733000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:121726400-121733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:121727000-121733000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:121727000-121733000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:121727000-121733000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:121727000-121733200	Weak transcription	Thymus	Thymus
24	chr12:121727200-121733000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:121727200-121733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:121727200-121733000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:121727400-121733000	Weak transcription	Osteobl	bone
28	chr12:121727600-121733000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:121727600-121733000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:121728000-121733000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:121728000-121733000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:121728200-121733000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:121728200-121733200	Weak transcription	Left Ventricle	heart
34	chr12:121729200-121733000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:121729400-121733000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:121729400-121733000	Weak transcription	NHDF-Ad	bronchial
37	chr12:121729400-121733200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:121729600-121733200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:121730000-121733800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr12:121730600-121733000	Enhancers	Adipose Nuclei	Adipose
41	chr12:121730600-121733000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:121730600-121733000	Weak transcription	Fetal Intestine Large	intestine
43	chr12:121730800-121733000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:121730800-121733000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:121730800-121733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:121730800-121733000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:121730800-121733000	Weak transcription	Fetal Thymus	thymus
48	chr12:121731000-121733800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:121731200-121733000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:121731200-121733000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links