Variant report

Variant	rs7812188
Chromosome Location	chr7:111903958-111903959
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111897692..111901157-chr7:111901324..111906297,5	K562	blood:

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

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

rs_ID	r²[population]
rs10046468	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224789	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10227494	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10232109	1.00[ASN][1000 genomes]
rs10232110	1.00[ASN][1000 genomes]
rs10237213	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];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	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269057	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274016	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10275406	1.00[ASN][1000 genomes]
rs10276140	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276369	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276727	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10276853	1.00[ASN][1000 genomes]
rs10278420	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281805	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282279	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047550	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047551	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530699	1.00[ASN][1000 genomes]
rs12532522	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534930	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537934	1.00[ASN][1000 genomes]
rs17159353	0.83[AMR][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	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189289	1.00[ASN][1000 genomes]
rs2285732	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532417	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];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	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56132236	1.00[ASN][1000 genomes]
rs56341778	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57214357	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60127009	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691495	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61669542	1.00[ASN][1000 genomes]
rs67064485	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67604537	1.00[ASN][1000 genomes]
rs6943448	1.00[ASN][1000 genomes]
rs6944498	1.00[ASN][1000 genomes]
rs6947063	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949234	1.00[ASN][1000 genomes]
rs6950282	1.00[ASN][1000 genomes]
rs6964483	1.00[ASN][1000 genomes]
rs6965896	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[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	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195204	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195211	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195218	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195220	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195223	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195224	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195225	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197338	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197343	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197349	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197363	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197366	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197367	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197376	1.00[ASN][1000 genomes]
rs7786555	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790065	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806811	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810149	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810734	0.81[AMR][1000 genomes];0.82[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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111881800-111906400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:111890400-111906200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:111893200-111926000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:111894600-111905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:111895600-111905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:111896000-111913000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:111896800-111922200	Weak transcription	Pancreas	Pancrea
9	chr7:111897600-111908000	Weak transcription	HepG2	liver
10	chr7:111900000-111905200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:111901000-111904000	Enhancers	Brain Anterior Caudate	brain
12	chr7:111902200-111905000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:111902400-111905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:111902600-111905000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:111902800-111904000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:111903000-111904000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:111903000-111904000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:111903000-111904000	Enhancers	Brain Angular Gyrus	brain
19	chr7:111903000-111904000	Enhancers	Brain Hippocampus Middle	brain
20	chr7:111903000-111904000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr7:111903000-111904200	Enhancers	Brain Substantia Nigra	brain
22	chr7:111903000-111904200	Enhancers	Ovary	ovary
23	chr7:111903200-111904000	Enhancers	Fetal Heart	heart
24	chr7:111903200-111904000	Enhancers	HSMMtube	muscle
25	chr7:111903200-111904200	Enhancers	Liver	Liver
26	chr7:111903200-111904200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:111903200-111905000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:111903400-111904000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:111903400-111904000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:111903400-111904200	Enhancers	Colon Smooth Muscle	Colon
31	chr7:111903400-111904200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:111903400-111904200	Enhancers	Fetal Lung	lung
33	chr7:111903400-111906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:111903400-111906400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
36	chr7:111903600-111905000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:111903600-111905000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:111903800-111904000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:111903800-111904000	Enhancers	Aorta	Aorta
40	chr7:111903800-111905000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:111903800-111905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:111903800-111905000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:111903800-111905000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:111903800-111905400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:111903800-111906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:111903800-111906200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:111903800-111906200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:111903800-111906200	Weak transcription	Right Atrium	heart
49	chr7:111903800-111906200	Weak transcription	Right Ventricle	heart
50	chr7:111903800-111906400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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