Variant report

Variant	rs12318316
Chromosome Location	chr12:49490815-49490816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49490502-49492238	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:49490293-49490838	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:49490321-49491251	K562	blood:	n/a	n/a
4	POLR2A	chr12:49490815-49491232	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49490226..49493443-chr12:49495153..49498719,5	MCF-7	breast:
2	chr12:49453076..49457977-chr12:49485062..49491403,12	K562	blood:
3	chr12:49490359..49493385-chr12:49523801..49526890,5	MCF-7	breast:
4	chr12:49490657..49493914-chr12:49521383..49526123,8	K562	blood:
5	chr12:49490023..49493728-chr12:49522829..49525742,6	MCF-7	breast:
6	chr12:49490414..49491055-chr12:49514552..49515113,2	MCF-7	breast:
7	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
8	chr12:49490563..49493344-chr12:49659510..49661117,2	K562	blood:
9	chr12:49482462..49486545-chr12:49487319..49491529,4	MCF-7	breast:
10	chr12:49450480..49457103-chr12:49487982..49492074,8	K562	blood:
11	chr12:49452588..49458658-chr12:49486666..49491439,6	MCF-7	breast:
12	chr12:49489085..49493906-chr12:49497574..49505715,14	K562	blood:

No data

Variant related genes	Relation type
DHH	TF binding region
ENSG00000200309	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11834849	0.94[AFR][1000 genomes]
rs12315734	1.00[MEX][hapmap]
rs12318558	0.95[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 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	chr12:49482800-49499200	Weak transcription	Hela-S3	cervix
2	chr12:49488600-49491200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:49488600-49491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:49488600-49493800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:49488600-49494000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:49488800-49491000	Weak transcription	A549	lung
7	chr12:49489000-49491000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:49489000-49491000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:49489000-49491400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:49489000-49491400	Weak transcription	HepG2	liver
11	chr12:49489000-49491800	Weak transcription	Psoas Muscle	Psoas
12	chr12:49489000-49493200	Weak transcription	Small Intestine	intestine
13	chr12:49489000-49493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:49489000-49493800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:49489000-49494000	Weak transcription	GM12878-XiMat	blood
16	chr12:49489000-49494800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:49489200-49491000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:49489200-49491000	Weak transcription	Brain Substantia Nigra	brain
19	chr12:49489200-49491000	Weak transcription	HUVEC	blood vessel
20	chr12:49489200-49491200	Weak transcription	NHLF	lung
21	chr12:49489200-49491400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:49489200-49498200	Weak transcription	Right Atrium	heart
23	chr12:49489400-49491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:49489400-49491000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:49489400-49491400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:49489400-49491400	Weak transcription	Fetal Lung	lung
27	chr12:49489400-49493800	Weak transcription	Stomach Mucosa	stomach
28	chr12:49489400-49496600	Strong transcription	Right Ventricle	heart
29	chr12:49489400-49499800	Strong transcription	Fetal Intestine Large	intestine
30	chr12:49489400-49501200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:49489400-49501400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:49489600-49491000	Weak transcription	NHDF-Ad	bronchial
33	chr12:49489600-49497400	Strong transcription	Adipose Nuclei	Adipose
34	chr12:49489600-49497800	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:49489600-49498400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:49489600-49498400	Strong transcription	Left Ventricle	heart
37	chr12:49489600-49498600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:49489600-49499400	Strong transcription	Fetal Intestine Small	intestine
39	chr12:49489600-49499600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:49489600-49500800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:49489600-49500800	Strong transcription	Thymus	Thymus
42	chr12:49489600-49501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:49489600-49502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:49489800-49491000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:49489800-49491400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:49489800-49491600	Weak transcription	K562	blood
47	chr12:49489800-49493600	Weak transcription	Fetal Kidney	kidney
48	chr12:49489800-49493800	Weak transcription	Fetal Brain Male	brain
49	chr12:49489800-49497400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:49489800-49498600	Strong transcription	Brain Germinal Matrix	brain

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