Variant report

Variant	rs2303210
Chromosome Location	chr5:96232596-96232597
allele	C/T
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:19)

rs_ID	r²[population]
rs12656253	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12657704	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2287902	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3797795	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3797797	0.81[ASN][1000 genomes]
rs3797798	0.81[ASN][1000 genomes]
rs3797850	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3806940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55767008	0.81[ASN][1000 genomes]
rs55870170	0.81[ASN][1000 genomes]
rs58477147	1.00[AMR][1000 genomes]
rs58748938	0.82[ASN][1000 genomes]
rs60280354	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73141135	0.82[ASN][1000 genomes]
rs73141187	1.00[AMR][1000 genomes]
rs769336	1.00[AMR][1000 genomes]
rs769338	1.00[AMR][1000 genomes]
rs7723473	1.00[AMR][1000 genomes]
rs7728347	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription 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
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv432756	chr5:96113844-96234644	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	esv3379222	chr5:96232560-96232684	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96213000-96239000	Weak transcription	Pancreas	Pancrea
2	chr5:96213400-96237800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:96213400-96243800	Weak transcription	HepG2	liver
4	chr5:96213400-96247000	Weak transcription	Fetal Lung	lung
5	chr5:96217600-96241600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:96217600-96250000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:96217800-96237800	Weak transcription	NHDF-Ad	bronchial
8	chr5:96218000-96237000	Weak transcription	NHLF	lung
9	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
10	chr5:96218200-96237000	Weak transcription	Hela-S3	cervix
11	chr5:96218600-96259600	Weak transcription	HMEC	breast
12	chr5:96221000-96236600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
14	chr5:96221800-96235600	Weak transcription	Right Atrium	heart
15	chr5:96221800-96242200	Strong transcription	Dnd41	blood
16	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:96222400-96242600	Strong transcription	Fetal Thymus	thymus
18	chr5:96222400-96247200	Weak transcription	Psoas Muscle	Psoas
19	chr5:96222400-96258200	Weak transcription	Stomach Mucosa	stomach
20	chr5:96223200-96240400	Strong transcription	Liver	Liver
21	chr5:96223600-96240600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:96225200-96244600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:96225600-96235800	Weak transcription	Lung	lung
24	chr5:96225600-96236600	Weak transcription	Spleen	Spleen
25	chr5:96225600-96245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:96225600-96266400	Weak transcription	Gastric	stomach
27	chr5:96226200-96244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:96226400-96237000	Weak transcription	Placenta	Placenta
29	chr5:96227800-96232600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:96228400-96232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:96229200-96245400	Weak transcription	HSMMtube	muscle
32	chr5:96229600-96235800	Weak transcription	Ovary	ovary
33	chr5:96229600-96236400	Weak transcription	Fetal Stomach	stomach
34	chr5:96229600-96236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:96229600-96237000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:96229600-96238600	Weak transcription	HSMM	muscle
37	chr5:96229600-96238800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:96229600-96239000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:96229600-96245000	Weak transcription	NH-A	brain
40	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
41	chr5:96229800-96232600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:96229800-96234400	Weak transcription	Left Ventricle	heart
43	chr5:96229800-96235600	Weak transcription	Small Intestine	intestine
44	chr5:96229800-96236600	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:96229800-96237200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:96229800-96241600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr5:96229800-96256800	Weak transcription	NHEK	skin
48	chr5:96229800-96256800	Weak transcription	Osteobl	bone
49	chr5:96229800-96257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus

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