Variant report

Variant	rs2267561
Chromosome Location	chr18:9809698-9809699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9807994-9810539	K562	blood:	n/a	n/a
2	STAT3	chr18:9809546-9809746	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr18:9809442-9809770	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9808460..9810899-chr18:9913258..9915030,3	K562	blood:
2	chr18:9797300..9799241-chr18:9807609..9810462,2	MCF-7	breast:
3	chr18:9809368..9812199-chr18:9887244..9891245,4	K562	blood:
4	chr18:9808367..9812199-chr18:9887244..9891245,4	K562	blood:
5	chr18:9807362..9810899-chr18:9913258..9915893,4	K562	blood:
6	chr18:9807137..9811222-chr18:9917740..9921159,3	K562	blood:

No data

Variant related genes	Relation type
RAB31	TF binding region
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12454158	0.83[EUR][1000 genomes]
rs2267562	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2267563	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2267565	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2267566	0.81[EUR][1000 genomes]
rs2267568	0.83[EUR][1000 genomes]
rs73940033	0.83[EUR][1000 genomes]
rs73940034	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
2	chr18:9805000-9810200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr18:9805400-9811400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:9805600-9814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr18:9806400-9810000	Enhancers	Fetal Muscle Trunk	muscle
6	chr18:9806400-9811400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr18:9806600-9810400	Enhancers	HSMMtube	muscle
8	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:9807000-9810000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:9807000-9810000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:9807000-9813000	Enhancers	Fetal Muscle Leg	muscle
12	chr18:9807200-9809800	Enhancers	Hela-S3	cervix
13	chr18:9807200-9811400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:9807400-9810800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9807400-9814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr18:9807600-9811000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr18:9807800-9810600	Enhancers	Brain Germinal Matrix	brain
19	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr18:9808000-9809800	Enhancers	Brain Angular Gyrus	brain
21	chr18:9808000-9809800	Enhancers	A549	lung
22	chr18:9808000-9810000	Enhancers	Aorta	Aorta
23	chr18:9808000-9810200	Enhancers	Ovary	ovary
24	chr18:9808000-9810400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:9808000-9810800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr18:9808000-9810800	Enhancers	Osteobl	bone
27	chr18:9808200-9810400	Weak transcription	Fetal Intestine Small	intestine
28	chr18:9808200-9810600	Enhancers	Fetal Stomach	stomach
29	chr18:9808200-9810800	Enhancers	Fetal Kidney	kidney
30	chr18:9808200-9810800	Enhancers	Rectal Smooth Muscle	rectum
31	chr18:9808200-9810800	Enhancers	NH-A	brain
32	chr18:9808200-9811000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr18:9808400-9810000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9808400-9810600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:9808400-9810800	Enhancers	NHLF	lung
36	chr18:9808400-9812400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr18:9808600-9809800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr18:9808600-9810000	Enhancers	Left Ventricle	heart
39	chr18:9808600-9810000	Enhancers	Right Atrium	heart
40	chr18:9808600-9811800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:9808800-9810200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:9808800-9810600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:9808800-9811600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr18:9808800-9812200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr18:9809000-9810800	Enhancers	Brain Cingulate Gyrus	brain
46	chr18:9809000-9812400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:9809200-9809800	Weak transcription	Gastric	stomach
49	chr18:9809200-9810000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr18:9809200-9810200	Enhancers	Brain Inferior Temporal Lobe	brain

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