Variant report

Variant	rs7699872
Chromosome Location	chr4:166195670-166195671
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10013480	0.89[ASN][1000 genomes]
rs10015885	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10016520	0.92[ASN][1000 genomes]
rs10023176	0.92[ASN][1000 genomes]
rs10024370	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10471096	0.88[ASN][1000 genomes]
rs11726531	0.88[ASN][1000 genomes]
rs12512319	0.87[ASN][1000 genomes]
rs16999615	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17842697	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28575657	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28633866	0.89[ASN][1000 genomes]
rs3817246	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3901797	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4613521	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4690809	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4691180	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6536902	0.88[ASN][1000 genomes]
rs6830714	0.85[EUR][1000 genomes]
rs7664299	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7685245	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7692029	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9994064	0.92[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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv980272	chr4:166179748-166197533	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 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	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130600-166200800	Weak transcription	Lung	lung
3	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:166156200-166199200	Weak transcription	Ovary	ovary
6	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:166177000-166196000	Weak transcription	Gastric	stomach
9	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:166177400-166199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:166177400-166201200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:166177400-166201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:166177400-166204200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
16	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
18	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:166177800-166205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:166178400-166205600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:166178800-166197200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr4:166178800-166200600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:166178800-166207600	Weak transcription	Primary B cells from cord blood	blood
24	chr4:166178800-166209200	Weak transcription	Brain Substantia Nigra	brain
25	chr4:166178800-166209400	Weak transcription	Brain Anterior Caudate	brain
26	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
28	chr4:166181200-166199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:166181200-166204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:166181200-166208200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:166182200-166196000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:166182200-166207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:166182800-166207800	Weak transcription	Primary T cells from cord blood	blood
34	chr4:166183600-166209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:166183800-166196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr4:166183800-166207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:166183800-166209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:166183800-166215200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
40	chr4:166184200-166202400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:166184800-166200600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:166185600-166198800	Weak transcription	Liver	Liver
43	chr4:166185800-166197000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:166189000-166200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:166189800-166205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:166191400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:166192000-166198600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr4:166192600-166207000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:166193200-166209200	Weak transcription	Brain Cingulate Gyrus	brain

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