Variant report

Variant	rs7448783
Chromosome Location	chr5:37734363-37734364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10071815	1.00[EUR][1000 genomes]
rs10076102	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs13188890	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549251	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549252	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377651	1.00[EUR][1000 genomes]
rs28874633	1.00[EUR][1000 genomes]
rs2910798	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2972941	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973074	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2973085	1.00[CEU][hapmap]
rs41270339	0.86[EUR][1000 genomes]
rs55654436	0.86[EUR][1000 genomes]
rs56279820	0.86[EUR][1000 genomes]
rs59898254	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451341	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs67885658	0.86[EUR][1000 genomes]
rs72743159	0.86[EUR][1000 genomes]
rs72743164	0.86[EUR][1000 genomes]
rs72743166	0.97[EUR][1000 genomes]
rs72743167	0.86[EUR][1000 genomes]
rs72743169	0.86[EUR][1000 genomes]
rs72743170	0.86[EUR][1000 genomes]
rs72743176	0.86[EUR][1000 genomes]
rs72743180	0.86[EUR][1000 genomes]
rs72743185	0.86[EUR][1000 genomes]
rs72743187	0.86[EUR][1000 genomes]
rs72743190	0.86[EUR][1000 genomes]
rs72743192	0.86[EUR][1000 genomes]
rs72743193	0.86[EUR][1000 genomes]
rs72743196	0.86[EUR][1000 genomes]
rs72743200	0.86[EUR][1000 genomes]
rs72743201	0.86[EUR][1000 genomes]
rs72743202	0.86[EUR][1000 genomes]
rs72745106	0.86[EUR][1000 genomes]
rs72745108	0.86[EUR][1000 genomes]
rs7705963	1.00[EUR][1000 genomes]
rs7722257	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7737640	1.00[EUR][1000 genomes]
rs9283746	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
7	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
9	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
12	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
13	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
15	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
16	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
17	chr5:37718800-37735600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:37718800-37735600	Weak transcription	Fetal Heart	heart
19	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:37721200-37737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:37722400-37743200	Weak transcription	Esophagus	oesophagus
23	chr5:37723000-37737400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:37723200-37738200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:37723400-37736000	Weak transcription	K562	blood
26	chr5:37723400-37738200	Weak transcription	A549	lung
27	chr5:37723600-37737400	Weak transcription	HUVEC	blood vessel
28	chr5:37723800-37735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:37724600-37738000	Weak transcription	NHEK	skin
30	chr5:37725000-37738400	Weak transcription	HMEC	breast
31	chr5:37725200-37735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:37725600-37735400	Weak transcription	NHDF-Ad	bronchial
33	chr5:37725600-37737800	Weak transcription	NHLF	lung
34	chr5:37727600-37737400	Weak transcription	Hela-S3	cervix
35	chr5:37727600-37737600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:37727600-37738400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:37727600-37745400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:37727800-37734800	Weak transcription	Fetal Brain Female	brain
39	chr5:37727800-37735400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:37727800-37735600	Weak transcription	Psoas Muscle	Psoas
41	chr5:37728000-37735800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:37728000-37736000	Weak transcription	NH-A	brain
43	chr5:37728000-37741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:37728000-37741800	Weak transcription	Ovary	ovary
45	chr5:37728000-37757200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:37728000-37758800	Weak transcription	Brain Germinal Matrix	brain
47	chr5:37728200-37735200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:37728200-37735400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:37728200-37741200	Weak transcription	Fetal Intestine Large	intestine
50	chr5:37728400-37735600	Weak transcription	Fetal Muscle Leg	muscle

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