Variant report

Variant	rs6966390
Chromosome Location	chr7:111858777-111858778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111854718..111856454-chr7:111857723..111859865,2	K562	blood:
2	chr7:111844988..111847414-chr7:111857091..111859419,2	MCF-7	breast:
3	chr7:111845474..111849215-chr7:111851403..111858964,11	K562	blood:
4	chr7:111857821..111859574-chr7:112030551..112032739,2	MCF-7	breast:
5	chr7:111854176..111856722-chr7:111858365..111862076,3	K562	blood:

Variant related genes	Relation type
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10233673	0.86[JPT][hapmap]
rs10240912	0.84[ASN][1000 genomes]
rs10266365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272126	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs10272188	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs10953708	0.80[CEU][hapmap];0.85[TSI][hapmap]
rs10953710	0.81[CEU][hapmap]
rs10953711	0.81[CEU][hapmap]
rs11763588	0.81[CEU][hapmap]
rs11768608	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs11769219	0.81[CEU][hapmap]
rs11773393	0.81[CEU][hapmap]
rs11773464	0.81[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs12113634	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12154685	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12537746	0.81[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs12705816	0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs12705817	0.81[CHB][hapmap];0.90[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs13236012	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs16873374	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs17159389	0.81[CEU][hapmap];0.85[TSI][hapmap]
rs2708600	0.82[JPT][hapmap]
rs2729563	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3807884	0.81[CEU][hapmap]
rs4132325	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4640999	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4727766	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs4730519	0.84[ASN][1000 genomes]
rs6466404	0.84[AMR][1000 genomes]
rs6955231	0.81[CEU][hapmap]
rs6974364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978767	0.87[JPT][hapmap]
rs6978927	0.81[CEU][hapmap]
rs736771	0.87[JPT][hapmap]
rs757195	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757196	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]
rs7789649	0.82[JPT][hapmap]
rs7792159	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795336	0.81[CEU][hapmap]
rs7811283	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs960348	0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 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	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111847600-111861000	Weak transcription	Lung	lung
3	chr7:111847600-111863400	Weak transcription	Gastric	stomach
4	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
5	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:111848000-111861800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:111848000-111866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:111848000-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:111848000-111866600	Weak transcription	Thymus	Thymus
15	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:111848200-111861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:111848200-111863200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:111848200-111863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:111851600-111863200	Weak transcription	Right Ventricle	heart
21	chr7:111852000-111859800	Weak transcription	Psoas Muscle	Psoas
22	chr7:111852000-111864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:111852000-111864000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:111852000-111866200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:111853000-111873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:111853200-111865200	Weak transcription	Spleen	Spleen
27	chr7:111855200-111873200	Weak transcription	Esophagus	oesophagus
28	chr7:111855600-111862800	Weak transcription	Left Ventricle	heart
29	chr7:111855600-111863200	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:111855600-111863200	Weak transcription	HepG2	liver
31	chr7:111855600-111869200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:111855800-111863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:111855800-111866600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:111855800-111869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:111856200-111860400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:111856200-111861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:111856200-111862600	Weak transcription	Fetal Lung	lung
38	chr7:111856200-111863200	Weak transcription	Brain Substantia Nigra	brain
39	chr7:111856200-111863600	Weak transcription	Fetal Heart	heart
40	chr7:111856200-111866400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:111856400-111860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:111856400-111861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:111856400-111866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:111856600-111863000	Weak transcription	Ovary	ovary
45	chr7:111856600-111878200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:111857200-111863000	Weak transcription	Liver	Liver
47	chr7:111858000-111865200	Weak transcription	Aorta	Aorta
48	chr7:111858200-111865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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