Variant report

Variant	rs636173
Chromosome Location	chr18:11996337-11996338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:11994227-11996555	HL-60	blood:	n/a	n/a
2	POLR2A	chr18:11993291-11997275	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr18:11996328-11996468	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr18:11994160-11997305	HL-60	blood:	n/a	n/a
5	SPI1	chr18:11995921-11996411	HL-60	blood:	n/a	chr18:11996148-11996157 chr18:11996145-11996158
6	POLR2A	chr18:11994382-11996458	HepG2	liver:	n/a	n/a
7	SPI1	chr18:11994643-11996531	HL-60	blood:	n/a	chr18:11996148-11996157 chr18:11996145-11996158
8	SPI1	chr18:11995211-11996490	GM12878	blood:	n/a	chr18:11996148-11996157 chr18:11996145-11996158
9	POLR2A	chr18:11993400-11998536	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11994002..11996965-chr18:12008009..12011015,3	MCF-7	breast:
2	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266955	TF binding region
IMPA2	TF binding region
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs3859296	0.86[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs58393627	0.87[ASN][1000 genomes]
rs588257	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs589247	0.86[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs590100	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs590277	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs591061	0.81[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs592577	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604962	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs605047	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs605636	0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.94[YRI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs605964	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606020	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs606105	0.91[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs606370	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs606478	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs607200	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs622061	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622246	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs636300	0.85[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs638063	0.86[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs638125	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs644710	0.82[JPT][hapmap]
rs649396	0.89[ASN][1000 genomes]
rs649713	0.89[ASN][1000 genomes]
rs650727	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs655790	0.86[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs666521	0.90[ASN][1000 genomes]
rs667798	0.86[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs668223	0.81[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs669838	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs671470	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs672917	0.81[CEU][hapmap];0.93[GIH][hapmap]
rs682271	0.84[ASN][1000 genomes]
rs683190	0.84[ASN][1000 genomes]
rs684680	0.86[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7234493	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv528699	chr18:11989416-12029857	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
2	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
3	chr18:11989600-11996400	Enhancers	Pancreas	Pancrea
4	chr18:11991000-11999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr18:11993200-11996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:11993200-11996600	Enhancers	HSMMtube	muscle
7	chr18:11993200-11998000	Enhancers	Stomach Mucosa	stomach
8	chr18:11993200-11998400	Enhancers	Fetal Muscle Trunk	muscle
9	chr18:11993400-11996400	Enhancers	Placenta	Placenta
10	chr18:11993400-11999400	Enhancers	Fetal Muscle Leg	muscle
11	chr18:11993400-12016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:11993800-11996400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:11993800-11996400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:11994200-11996600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:11994400-11997600	Enhancers	Colonic Mucosa	Colon
16	chr18:11994600-11996600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr18:11994600-11996800	Enhancers	Liver	Liver
18	chr18:11994600-11996800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr18:11994800-11997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr18:11995000-11996600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr18:11995000-11999200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:11995200-11996400	Enhancers	Colon Smooth Muscle	Colon
23	chr18:11995200-11996400	Enhancers	Fetal Stomach	stomach
24	chr18:11995200-11996400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr18:11995200-11996600	Enhancers	Dnd41	blood
26	chr18:11995200-11996800	Enhancers	Fetal Thymus	thymus
27	chr18:11995200-11996800	Enhancers	Spleen	Spleen
28	chr18:11995200-11997000	Enhancers	Primary hematopoietic stem cells	blood
29	chr18:11995200-11997000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:11995400-11996400	Enhancers	Primary B cells from peripheral blood	blood
31	chr18:11995400-11996400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:11995400-11996400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr18:11995400-11996400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr18:11995400-11996800	Weak transcription	Gastric	stomach
35	chr18:11995400-11998400	Enhancers	Brain Hippocampus Middle	brain
36	chr18:11995400-11999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr18:11995400-12001800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:11995600-11996400	Weak transcription	Psoas Muscle	Psoas
39	chr18:11995600-11996600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:11995600-11996600	Enhancers	Primary T cells from cord blood	blood
41	chr18:11995600-11996600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:11995600-11996600	Enhancers	Adipose Nuclei	Adipose
43	chr18:11995600-11996600	Enhancers	Fetal Intestine Small	intestine
44	chr18:11995600-11996800	Weak transcription	Esophagus	oesophagus
45	chr18:11995600-11998200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr18:11995600-11998600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr18:11995600-11998800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr18:11995600-11999000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:11995600-11999000	Weak transcription	Fetal Brain Female	brain
50	chr18:11995600-11999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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