Variant report

Variant	rs960348
Chromosome Location	chr7:111852682-111852683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111845973..111851884-chr7:111852551..111858419,8	K562	blood:
2	chr7:111845474..111849215-chr7:111851403..111858964,11	K562	blood:
3	chr7:111850231..111853782-chr7:112032412..112034689,3	MCF-7	breast:
4	chr7:111851431..111854323-chr7:112090002..112092015,2	K562	blood:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 41 )
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];0.81[AMR][1000 genomes]
rs10240912	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10251236	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10266365	0.86[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];0.95[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12113634	0.81[JPT][hapmap]
rs12154685	0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537746	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]
rs12705816	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12705817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2708600	0.94[JPT][hapmap]
rs2708601	0.82[JPT][hapmap]
rs3948719	0.88[CEU][hapmap]
rs4132325	0.87[ASN][1000 genomes]
rs4464880	0.86[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];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4730519	0.90[AMR][1000 genomes];0.89[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];0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6966390	0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs6966694	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974364	0.85[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6976889	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978767	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6979385	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs736771	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs757195	0.81[CHB][hapmap];0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs757196	0.82[CHB][hapmap];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	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111847600-111852800	Weak transcription	Left Ventricle	heart
3	chr7:111847600-111854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:111847600-111855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:111847600-111855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:111847600-111857800	Weak transcription	Placenta	Placenta
7	chr7:111847600-111861000	Weak transcription	Lung	lung
8	chr7:111847600-111863400	Weak transcription	Gastric	stomach
9	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
10	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:111847800-111855400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:111847800-111855400	Weak transcription	Right Atrium	heart
14	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:111848000-111853600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:111848000-111854800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:111848000-111855000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:111848000-111855000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:111848000-111855000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:111848000-111855200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:111848000-111855200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:111848000-111855400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:111848000-111855400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:111848000-111861800	Weak transcription	Primary T cells from cord blood	blood
28	chr7:111848000-111866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:111848000-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:111848000-111866600	Weak transcription	Thymus	Thymus
31	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:111848200-111861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:111848200-111863200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:111848200-111863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:111848800-111855600	Enhancers	HepG2	liver
37	chr7:111849600-111854600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:111849800-111855000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:111851000-111856200	Enhancers	Fetal Heart	heart
40	chr7:111851200-111853000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:111851200-111853000	Enhancers	Fetal Lung	lung
42	chr7:111851600-111853000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:111851600-111863200	Weak transcription	Right Ventricle	heart
44	chr7:111851800-111853000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:111851800-111853200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:111851800-111855600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:111852000-111852800	Enhancers	A549	lung
48	chr7:111852000-111853000	Enhancers	Liver	Liver
49	chr7:111852000-111854600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:111852000-111855400	Weak transcription	Duodenum Mucosa	Duodenum

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