Variant report

Variant	rs6852320
Chromosome Location	chr4:148782064-148782065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10013038	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022144	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036441	1.00[EUR][1000 genomes]
rs10519914	0.82[MEX][hapmap]
rs10519918	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11723235	1.00[EUR][1000 genomes]
rs11725005	1.00[EUR][1000 genomes]
rs13147854	1.00[EUR][1000 genomes]
rs2118034	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3857095	1.00[TSI][hapmap]
rs4027115	0.88[GIH][hapmap]
rs4240340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240342	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4835102	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835104	1.00[EUR][1000 genomes]
rs4835105	1.00[EUR][1000 genomes]
rs4835462	1.00[EUR][1000 genomes]
rs4835465	1.00[EUR][1000 genomes]
rs4835467	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6535564	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6535566	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6853610	1.00[EUR][1000 genomes]
rs72955571	1.00[EUR][1000 genomes]
rs7435763	1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7654818	1.00[EUR][1000 genomes]
rs7661267	1.00[EUR][1000 genomes]
rs7663294	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7687859	1.00[EUR][1000 genomes]
rs7700162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893030	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv274865	chr4:148779449-148782064	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
2	chr4:148743200-148782200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr4:148764400-148786000	Weak transcription	NH-A	brain
5	chr4:148764400-148787000	Weak transcription	NHEK	skin
6	chr4:148764600-148787800	Weak transcription	HMEC	breast
7	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:148768200-148782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
12	chr4:148769000-148782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:148769600-148782200	Weak transcription	Pancreas	Pancrea
14	chr4:148769600-148782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:148770000-148782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
17	chr4:148771800-148782200	Weak transcription	Lung	lung
18	chr4:148772000-148782200	Weak transcription	Fetal Intestine Small	intestine
19	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
20	chr4:148772400-148785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:148772600-148782200	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:148772600-148782400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:148773000-148782200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:148773600-148782200	Weak transcription	Aorta	Aorta
25	chr4:148773600-148782200	Weak transcription	Esophagus	oesophagus
26	chr4:148773600-148782200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:148774000-148782200	Weak transcription	Left Ventricle	heart
28	chr4:148774400-148782200	Weak transcription	Right Atrium	heart
29	chr4:148776200-148782200	Weak transcription	NHLF	lung
30	chr4:148776400-148782200	Weak transcription	Fetal Stomach	stomach
31	chr4:148776400-148787200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:148776600-148782200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:148777000-148782200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:148777000-148782200	Weak transcription	Ovary	ovary
35	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
37	chr4:148777200-148782200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:148777200-148782600	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:148777200-148782600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:148777200-148782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:148777200-148784400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:148777400-148796600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:148777800-148782600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:148777800-148796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:148778400-148782200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:148778600-148787400	Weak transcription	Hela-S3	cervix
47	chr4:148779400-148783200	Weak transcription	Placenta	Placenta
48	chr4:148779400-148783200	Strong transcription	GM12878-XiMat	blood
49	chr4:148779400-148783400	Strong transcription	HSMM	muscle
50	chr4:148779600-148783400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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