Variant report

Variant	rs818476
Chromosome Location	chr7:105113031-105113032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2258851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692430	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818475	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs818477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818478	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
18	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
21	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	esv1795085	chr7:105094664-105116430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
23	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105080000-105161200	Weak transcription	Pancreas	Pancrea
2	chr7:105080200-105126800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:105088200-105142600	Weak transcription	Esophagus	oesophagus
4	chr7:105088200-105152800	Weak transcription	Gastric	stomach
5	chr7:105088400-105140400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:105089200-105127000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:105089200-105142600	Weak transcription	Fetal Thymus	thymus
8	chr7:105089600-105145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:105089600-105145800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:105090000-105126800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:105090000-105128200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:105090800-105120200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:105093600-105153000	Weak transcription	Small Intestine	intestine
14	chr7:105094400-105113400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:105094400-105120200	Weak transcription	Lung	lung
16	chr7:105094800-105137200	Weak transcription	Fetal Kidney	kidney
17	chr7:105095000-105128200	Weak transcription	Primary B cells from cord blood	blood
18	chr7:105095200-105140600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:105095200-105142600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:105095600-105128400	Weak transcription	Brain Angular Gyrus	brain
21	chr7:105095600-105128400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:105096000-105119200	Weak transcription	Brain Anterior Caudate	brain
23	chr7:105096000-105126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:105096000-105127600	Weak transcription	NHLF	lung
25	chr7:105096000-105141000	Weak transcription	Colonic Mucosa	Colon
26	chr7:105096200-105128200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:105096400-105128000	Weak transcription	Brain Substantia Nigra	brain
28	chr7:105096400-105145600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:105096600-105113200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:105096600-105113400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:105098200-105151200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:105098600-105121000	Weak transcription	Brain Germinal Matrix	brain
33	chr7:105098600-105128400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:105098800-105119200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:105099400-105130800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:105099800-105127600	Weak transcription	NHDF-Ad	bronchial
37	chr7:105099800-105153000	Weak transcription	Psoas Muscle	Psoas
38	chr7:105100000-105141800	Weak transcription	Placenta	Placenta
39	chr7:105102000-105121000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:105102400-105113800	Weak transcription	Adipose Nuclei	Adipose
41	chr7:105102400-105118800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:105102400-105119600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:105102400-105120600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:105102400-105128000	Weak transcription	Fetal Lung	lung
45	chr7:105102400-105134000	Weak transcription	Aorta	Aorta
46	chr7:105102400-105134000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:105102400-105140800	Weak transcription	Right Ventricle	heart
48	chr7:105102600-105118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:105102800-105126800	Weak transcription	Ovary	ovary
50	chr7:105103000-105113400	Weak transcription	Muscle Satellite Cultured Cells	--

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