Variant report

Variant	rs60691495
Chromosome Location	chr7:111856678-111856679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:111825703..111828639-chr7:111855708..111857672,2	K562	blood:
2	chr7:111845973..111851884-chr7:111852551..111858419,8	K562	blood:
3	chr7:111845474..111849215-chr7:111851403..111858964,11	K562	blood:
4	chr7:111854176..111856722-chr7:111858365..111862076,3	K562	blood:

Variant related genes	Relation type
ENSG00000198839	Chromatin interaction
ENSG00000128512	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10046468	1.00[ASN][1000 genomes]
rs10224789	0.93[ASN][1000 genomes]
rs10227494	1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	1.00[ASN][1000 genomes]
rs10239663	1.00[ASN][1000 genomes]
rs10243005	1.00[ASN][1000 genomes]
rs10246422	1.00[ASN][1000 genomes]
rs10248314	1.00[ASN][1000 genomes]
rs10251698	1.00[ASN][1000 genomes]
rs10253148	0.86[ASN][1000 genomes]
rs10261860	1.00[ASN][1000 genomes]
rs10266976	1.00[ASN][1000 genomes]
rs10269057	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	1.00[ASN][1000 genomes]
rs10276727	0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	1.00[ASN][1000 genomes]
rs10281805	1.00[ASN][1000 genomes]
rs10282279	1.00[ASN][1000 genomes]
rs1047550	1.00[ASN][1000 genomes]
rs1047551	1.00[ASN][1000 genomes]
rs12530699	1.00[ASN][1000 genomes]
rs12532522	1.00[ASN][1000 genomes]
rs12534930	1.00[ASN][1000 genomes]
rs12537934	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159353	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159566	0.86[ASN][1000 genomes]
rs17159604	1.00[ASN][1000 genomes]
rs17402962	1.00[ASN][1000 genomes]
rs17491423	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	1.00[ASN][1000 genomes]
rs28532417	1.00[ASN][1000 genomes]
rs2894646	1.00[ASN][1000 genomes]
rs3109106	1.00[ASN][1000 genomes]
rs3109108	1.00[ASN][1000 genomes]
rs3109116	1.00[ASN][1000 genomes]
rs3109117	1.00[ASN][1000 genomes]
rs3128395	1.00[ASN][1000 genomes]
rs35134215	1.00[ASN][1000 genomes]
rs41281060	0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669542	1.00[ASN][1000 genomes]
rs67064485	1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944498	1.00[ASN][1000 genomes]
rs6947063	1.00[ASN][1000 genomes]
rs6949234	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969176	1.00[ASN][1000 genomes]
rs6971023	1.00[ASN][1000 genomes]
rs73192992	1.00[ASN][1000 genomes]
rs73192993	1.00[ASN][1000 genomes]
rs73193000	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195223	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195224	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197338	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	1.00[ASN][1000 genomes]
rs73197363	1.00[ASN][1000 genomes]
rs73197366	1.00[ASN][1000 genomes]
rs73197367	1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806811	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810734	1.00[ASN][1000 genomes]
rs7812188	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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:51 , 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	chr7:111847600-111857800	Weak transcription	Placenta	Placenta
3	chr7:111847600-111861000	Weak transcription	Lung	lung
4	chr7:111847600-111863400	Weak transcription	Gastric	stomach
5	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
6	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:111848000-111861800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:111848000-111866200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:111848000-111866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:111848000-111866600	Weak transcription	Thymus	Thymus
16	chr7:111848000-111876000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
18	chr7:111848200-111861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:111848200-111863200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:111848200-111863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:111851600-111863200	Weak transcription	Right Ventricle	heart
22	chr7:111852000-111859800	Weak transcription	Psoas Muscle	Psoas
23	chr7:111852000-111864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:111852000-111864000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:111852000-111866200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:111853000-111873000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:111853200-111865200	Weak transcription	Spleen	Spleen
28	chr7:111855000-111856800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:111855200-111873200	Weak transcription	Esophagus	oesophagus
30	chr7:111855400-111856800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:111855400-111857000	Enhancers	Brain Germinal Matrix	brain
32	chr7:111855600-111857600	Weak transcription	Aorta	Aorta
33	chr7:111855600-111862800	Weak transcription	Left Ventricle	heart
34	chr7:111855600-111863200	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:111855600-111863200	Weak transcription	HepG2	liver
36	chr7:111855600-111869200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:111855800-111863400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:111855800-111866600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:111855800-111869200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:111856200-111860400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:111856200-111861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:111856200-111862600	Weak transcription	Fetal Lung	lung
43	chr7:111856200-111863200	Weak transcription	Brain Substantia Nigra	brain
44	chr7:111856200-111863600	Weak transcription	Fetal Heart	heart
45	chr7:111856200-111866400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:111856400-111857000	Weak transcription	Liver	Liver
47	chr7:111856400-111860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:111856400-111861800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:111856400-111866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:111856600-111863000	Weak transcription	Ovary	ovary

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