Variant report

Variant	rs1723845
Chromosome Location	chr11:73497924-73497925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr11:73497760-73498006	K562	blood:	n/a	n/a
2	CEBPB	chr11:73497877-73498221	K562	blood:	n/a	n/a
3	NR2F2	chr11:73497811-73499497	K562	blood:	n/a	n/a
4	RCOR1	chr11:73497740-73498066	K562	blood:	n/a	n/a
5	MXI1	chr11:73497796-73500876	SK-N-SH	brain:	n/a	n/a
6	RFX5	chr11:73497830-73498247	K562	blood:	n/a	n/a
7	POLR2A	chr11:73497787-73499438	K562	blood:	n/a	n/a
8	POLR2A	chr11:73497875-73498025	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73470211..73473572-chr11:73496692..73501846,8	MCF-7	breast:
2	chr11:73453380..73456038-chr11:73496235..73498225,2	K562	blood:
3	chr11:73496600..73498927-chr11:73587563..73589388,3	MCF-7	breast:
4	chr11:73469206..73473775-chr11:73494297..73499248,5	K562	blood:
5	chr11:73466132..73474322-chr11:73488493..73499248,27	K562	blood:
6	chr11:73497415..73503223-chr11:73585602..73589591,8	K562	blood:
7	chr11:73497005..73500757-chr11:73586552..73589226,3	MCF-7	breast:
8	chr11:73497833..73499954-chr17:57783291..57785568,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL48	TF binding region
ENSG00000175575	Chromatin interaction
ENSG00000256034	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000181924	Chromatin interaction
ENSG00000175582	Chromatin interaction
ENSG00000141378	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10898944	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11235903	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12293194	0.89[AFR][1000 genomes]
rs1466218	0.93[YRI][hapmap]
rs1525750	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1525751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1618529	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs1621654	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1624231	0.88[AMR][1000 genomes]
rs1670548	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1670553	0.93[YRI][hapmap]
rs1670560	0.93[YRI][hapmap]
rs1670561	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs1670571	0.86[YRI][hapmap]
rs1723834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1723839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723842	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723844	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1723846	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1723849	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1792157	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1792164	0.93[YRI][hapmap]
rs1792186	0.93[YRI][hapmap]
rs1792195	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1792196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1792202	0.92[YRI][hapmap]
rs1880642	0.89[EUR][1000 genomes]
rs1880643	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs1976913	0.81[AFR][1000 genomes]
rs1976914	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2008722	0.90[ASW][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037706	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2037709	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs2056649	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2366944	0.89[EUR][1000 genomes]
rs2444600	0.86[AFR][1000 genomes]
rs2462617	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511262	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs2511263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511269	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511275	0.93[YRI][hapmap]
rs2512633	0.84[LWK][hapmap]
rs2515091	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2515095	1.00[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap]
rs2886812	0.93[YRI][hapmap]
rs4548648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944026	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4944027	0.89[EUR][1000 genomes]
rs4944030	0.89[EUR][1000 genomes]
rs4944854	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs4944857	0.89[EUR][1000 genomes]
rs4944859	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4944860	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs4944864	0.87[EUR][1000 genomes]
rs4944865	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs594814	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs610280	1.00[ASW][hapmap]
rs652229	1.00[ASW][hapmap]
rs6592528	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6592529	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs7101957	0.81[TSI][hapmap]
rs7108695	0.85[CEU][hapmap]
rs7396121	0.89[EUR][1000 genomes]
rs7932364	1.00[YRI][hapmap]
rs7942515	0.89[EUR][1000 genomes]
rs7950472	0.83[AFR][1000 genomes]
rs935989	0.93[YRI][hapmap]
rs940831	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs9634024	0.88[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS 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	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73491000-73498400	Weak transcription	Esophagus	oesophagus
2	chr11:73491000-73498600	Weak transcription	Aorta	Aorta
3	chr11:73491200-73498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:73491200-73498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:73491200-73498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:73491200-73498000	Weak transcription	A549	lung
7	chr11:73491200-73498000	Weak transcription	HSMM	muscle
8	chr11:73491200-73498200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:73491200-73498200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:73491200-73498400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:73491200-73498400	Weak transcription	Thymus	Thymus
12	chr11:73491200-73498600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:73491400-73498200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:73491400-73498200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:73491400-73498200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:73491400-73498200	Weak transcription	Adipose Nuclei	Adipose
17	chr11:73491400-73498400	Weak transcription	Primary T cells from cord blood	blood
18	chr11:73491400-73498400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:73491800-73498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:73495400-73498200	Weak transcription	Fetal Intestine Small	intestine
21	chr11:73495400-73498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:73495600-73498200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:73495600-73498200	Weak transcription	Fetal Intestine Large	intestine
24	chr11:73495600-73498400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:73495600-73498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:73495600-73498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:73495800-73498200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:73496000-73498200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:73496000-73498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:73496000-73498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:73496200-73498600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:73496400-73498400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:73496600-73498200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:73496600-73498200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:73496600-73498400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:73497200-73498400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:73497600-73498000	Weak transcription	Fetal Thymus	thymus
38	chr11:73497800-73498000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:73497800-73498000	Weak transcription	Brain Angular Gyrus	brain
40	chr11:73497800-73498000	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:73497800-73498000	Enhancers	HepG2	liver
42	chr11:73497800-73498000	Enhancers	HMEC	breast
43	chr11:73497800-73498200	Enhancers	Liver	Liver
44	chr11:73497800-73498200	Enhancers	Brain Anterior Caudate	brain
45	chr11:73497800-73498200	Flanking Active TSS	K562	blood
46	chr11:73497800-73498200	Enhancers	NHEK	skin
47	chr11:73497800-73498400	Flanking Active TSS	Hela-S3	cervix
48	chr11:73497800-73498800	Flanking Active TSS	Dnd41	blood

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