Variant report

Variant	rs644710
Chromosome Location	chr18:11983680-11983681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11951098..11953868-chr18:11983215..11985135,2	K562	blood:
2	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
3	chr18:11945202..11946852-chr18:11982600..11984410,2	K562	blood:
4	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs590100	0.86[JPT][hapmap]
rs605047	0.81[JPT][hapmap]
rs605636	0.86[JPT][hapmap]
rs606020	0.82[JPT][hapmap]
rs606105	0.86[JPT][hapmap]
rs606478	0.86[JPT][hapmap]
rs636173	0.82[JPT][hapmap]
rs636300	0.86[JPT][hapmap]
rs638063	0.86[JPT][hapmap]
rs638125	0.86[JPT][hapmap]
rs650727	0.81[JPT][hapmap]
rs655790	0.82[JPT][hapmap]
rs667798	0.86[JPT][hapmap]
rs668223	0.85[JPT][hapmap]
rs669838	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr18:11980800-11983800	Active TSS	Pancreas	Pancrea
3	chr18:11981800-11983800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:11982000-11983800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr18:11982200-11984400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr18:11982400-11987600	Weak transcription	Fetal Heart	heart
7	chr18:11982400-11988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
9	chr18:11982600-11983800	Weak transcription	Lung	lung
10	chr18:11982600-11984000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:11982600-11984000	Active TSS	Stomach Smooth Muscle	stomach
12	chr18:11982600-11984200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:11982600-11984200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:11982600-11984200	Enhancers	Adipose Nuclei	Adipose
15	chr18:11982600-11984400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:11982600-11984400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:11982600-11984400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr18:11982600-11984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:11982600-11984400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:11982600-11984400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:11982600-11984400	Enhancers	Fetal Muscle Leg	muscle
22	chr18:11982600-11984400	Enhancers	Gastric	stomach
23	chr18:11982600-11985600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:11982600-11985800	Weak transcription	Right Atrium	heart
25	chr18:11982600-11986800	Weak transcription	Brain Germinal Matrix	brain
26	chr18:11982600-11987400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr18:11982600-11987800	Weak transcription	NHLF	lung
28	chr18:11982600-11995600	Weak transcription	Primary T cells from cord blood	blood
29	chr18:11982600-11995800	Weak transcription	Thymus	Thymus
30	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
31	chr18:11982800-11983800	Flanking Active TSS	Fetal Stomach	stomach
32	chr18:11982800-11984000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr18:11982800-11984200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr18:11982800-11984200	Flanking Active TSS	HepG2	liver
35	chr18:11982800-11984200	Flanking Active TSS	NHEK	skin
36	chr18:11982800-11984400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:11982800-11984600	Flanking Active TSS	Hela-S3	cervix
38	chr18:11983000-11983800	Enhancers	Primary B cells from cord blood	blood
39	chr18:11983000-11983800	Enhancers	Fetal Intestine Small	intestine
40	chr18:11983000-11984000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr18:11983000-11984000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:11983000-11984600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr18:11983200-11983800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr18:11983200-11984200	Active TSS	A549	lung
45	chr18:11983200-11984200	Weak transcription	HSMMtube	muscle
46	chr18:11983200-11984600	Enhancers	Stomach Mucosa	stomach
47	chr18:11983200-11984800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:11983400-11983800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr18:11983400-11983800	Enhancers	Primary hematopoietic stem cells	blood
50	chr18:11983400-11983800	Active TSS	Duodenum Mucosa	Duodenum

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