Variant report

Variant	rs757196
Chromosome Location	chr7:111843630-111843631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:111843467-111848079	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111842975..111845689-chr7:112090536..112092213,2	K562	blood:
2	chr7:111841545..111844388-chr7:111844769..111847639,3	MCF-7	breast:
3	chr7:111836349..111839066-chr7:111842425..111844306,2	K562	blood:
4	chr7:111814511..111817304-chr7:111843000..111845884,2	K562	blood:
5	chr7:111822388..111825191-chr7:111842170..111844760,2	K562	blood:

No data

Variant related genes	Relation type
ZNF277	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10226284	0.81[CEU][hapmap]
rs10233673	0.86[JPT][hapmap]
rs10238141	1.00[CEU][hapmap]
rs10240912	0.84[ASN][1000 genomes]
rs10266365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272126	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10272188	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10953708	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10953710	1.00[CEU][hapmap]
rs10953711	1.00[CEU][hapmap]
rs11761807	1.00[CEU][hapmap]
rs11763588	1.00[CEU][hapmap]
rs11763768	0.89[CEU][hapmap]
rs11768608	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs11769219	1.00[CEU][hapmap]
rs11773393	1.00[CEU][hapmap]
rs11773464	0.86[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs12113634	0.93[JPT][hapmap]
rs12154685	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12537746	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs12705816	0.87[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12705817	0.86[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs13230061	0.89[CEU][hapmap]
rs13236012	0.86[JPT][hapmap]
rs16873374	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs17159389	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs17159446	1.00[CEU][hapmap]
rs2301725	0.81[CEU][hapmap]
rs2708592	0.89[CEU][hapmap]
rs2708600	0.82[JPT][hapmap]
rs2708603	0.89[CEU][hapmap]
rs2729563	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807884	1.00[CEU][hapmap]
rs3823515	0.81[CEU][hapmap]
rs4132325	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4640999	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4727766	0.87[JPT][hapmap]
rs4730519	0.84[ASN][1000 genomes]
rs4730520	0.81[CEU][hapmap]
rs6949164	0.81[CEU][hapmap]
rs6955231	1.00[CEU][hapmap]
rs6966390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978767	0.87[JPT][hapmap]
rs6978927	1.00[CEU][hapmap]
rs736771	0.87[JPT][hapmap]
rs757195	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781245	0.81[CEU][hapmap]
rs7789649	0.82[JPT][hapmap]
rs7792159	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795336	1.00[CEU][hapmap]
rs7811283	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs960348	0.82[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][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	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111836800-111843800	Weak transcription	Lung	lung
2	chr7:111838600-111844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:111839200-111844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:111839600-111844000	Weak transcription	HSMM	muscle
5	chr7:111839800-111843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:111840000-111843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:111840200-111843800	Weak transcription	Osteobl	bone
8	chr7:111840400-111844000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:111840800-111843800	Enhancers	Hela-S3	cervix
10	chr7:111841000-111843800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:111841200-111843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:111841600-111843800	Weak transcription	NH-A	brain
13	chr7:111841600-111844000	Weak transcription	Fetal Stomach	stomach
14	chr7:111842200-111843800	Enhancers	A549	lung
15	chr7:111842200-111843800	Flanking Active TSS	HUVEC	blood vessel
16	chr7:111842400-111843800	Enhancers	Fetal Kidney	kidney
17	chr7:111842400-111844000	Enhancers	Liver	Liver
18	chr7:111842600-111843800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:111842600-111843800	Enhancers	Adipose Nuclei	Adipose
20	chr7:111842600-111843800	Enhancers	Psoas Muscle	Psoas
21	chr7:111842600-111844000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr7:111842600-111844000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:111843000-111843800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:111843000-111843800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:111843000-111843800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:111843000-111843800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:111843000-111843800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:111843000-111843800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:111843000-111843800	Bivalent Enhancer	Dnd41	blood
30	chr7:111843000-111844000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:111843000-111844000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:111843000-111844000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:111843000-111844000	Enhancers	Ovary	ovary
34	chr7:111843000-111844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:111843200-111843800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr7:111843200-111843800	Weak transcription	Pancreas	Pancrea
37	chr7:111843200-111843800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:111843200-111843800	Enhancers	Stomach Smooth Muscle	stomach
39	chr7:111843200-111844000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:111843200-111844000	Weak transcription	Right Ventricle	heart
41	chr7:111843200-111845600	Active TSS	Right Atrium	heart
42	chr7:111843200-111846800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:111843400-111843800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:111843400-111843800	Active TSS	Brain Anterior Caudate	brain
45	chr7:111843400-111843800	Enhancers	Brain Substantia Nigra	brain
46	chr7:111843400-111843800	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:111843400-111843800	Enhancers	Fetal Brain Male	brain
48	chr7:111843400-111843800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:111843400-111844000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:111843400-111844000	Weak transcription	Left Ventricle	heart

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