Variant report

Variant	rs12537746
Chromosome Location	chr7:111843336-111843337
allele	C/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	SMC3	chr7:111842926-111843339	HepG2	liver:	n/a	n/a
2	NFIC	chr7:111842648-111843427	SK-N-SH	brain:	n/a	chr7:111842978-111842995
3	STAT3	chr7:111843004-111843375	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:111839777..111843367-chr7:111843500..111847155,4	K562	blood:
2	chr7:111842975..111845689-chr7:112090536..112092213,2	K562	blood:
3	chr7:111841545..111844388-chr7:111844769..111847639,3	MCF-7	breast:
4	chr7:111836349..111839066-chr7:111842425..111844306,2	K562	blood:
5	chr7:111814511..111817304-chr7:111843000..111845884,2	K562	blood:
6	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: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10233673	1.00[CEU][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes]
rs10240912	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10251236	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10266365	0.82[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10272976	0.88[CEU][hapmap]
rs10435366	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs10953706	0.90[ASN][1000 genomes]
rs11773464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12113634	0.81[JPT][hapmap]
rs12154685	0.91[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12705816	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12705817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236012	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2708600	0.94[JPT][hapmap]
rs2708601	0.81[JPT][hapmap]
rs3948719	0.88[CEU][hapmap]
rs4132325	0.87[ASN][1000 genomes]
rs4464880	0.82[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs4640999	0.89[ASN][1000 genomes]
rs4727766	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4730519	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730524	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes]
rs6949809	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6966390	0.81[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6966694	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974364	0.81[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6976889	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978767	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs6979385	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs736771	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs757195	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs757196	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs7789649	0.94[JPT][hapmap]
rs7792159	0.86[ASN][1000 genomes]
rs7802828	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs7811283	0.86[ASN][1000 genomes]
rs886353	0.84[CEU][hapmap]
rs960348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111836600-111843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:111836800-111843800	Weak transcription	Lung	lung
3	chr7:111838600-111844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:111839200-111844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:111839600-111844000	Weak transcription	HSMM	muscle
6	chr7:111839800-111843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:111840000-111843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:111840200-111843800	Weak transcription	Osteobl	bone
9	chr7:111840400-111844000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:111840800-111843800	Enhancers	Hela-S3	cervix
11	chr7:111841000-111843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:111841000-111843600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr7:111841000-111843800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:111841200-111843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:111841600-111843800	Weak transcription	NH-A	brain
16	chr7:111841600-111844000	Weak transcription	Fetal Stomach	stomach
17	chr7:111842000-111843600	Weak transcription	NHDF-Ad	bronchial
18	chr7:111842200-111843800	Enhancers	A549	lung
19	chr7:111842200-111843800	Flanking Active TSS	HUVEC	blood vessel
20	chr7:111842400-111843600	Enhancers	Brain Angular Gyrus	brain
21	chr7:111842400-111843800	Enhancers	Fetal Kidney	kidney
22	chr7:111842400-111844000	Enhancers	Liver	Liver
23	chr7:111842600-111843400	Enhancers	Left Ventricle	heart
24	chr7:111842600-111843600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:111842600-111843600	Enhancers	HMEC	breast
26	chr7:111842600-111843800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:111842600-111843800	Enhancers	Adipose Nuclei	Adipose
28	chr7:111842600-111843800	Enhancers	Psoas Muscle	Psoas
29	chr7:111842600-111844000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr7:111842600-111844000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:111842800-111843400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:111842800-111843600	Enhancers	NHLF	lung
33	chr7:111843000-111843400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:111843000-111843400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:111843000-111843400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:111843000-111843400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr7:111843000-111843400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr7:111843000-111843400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:111843000-111843400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:111843000-111843400	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr7:111843000-111843400	Active TSS	Fetal Brain Male	brain
42	chr7:111843000-111843400	Flanking Active TSS	Fetal Lung	lung
43	chr7:111843000-111843400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:111843000-111843400	Bivalent Enhancer	Thymus	Thymus
45	chr7:111843000-111843400	Flanking Active TSS	NHEK	skin
46	chr7:111843000-111843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:111843000-111843600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:111843000-111843600	Active TSS	Fetal Brain Female	brain
49	chr7:111843000-111843600	Flanking Active TSS	HepG2	liver
50	chr7:111843000-111843800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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