Variant report

Variant	rs6595177
Chromosome Location	chr5:118525149-118525150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11241484	0.87[EUR][1000 genomes]
rs11959739	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12719254	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs299216	1.00[ASN][1000 genomes]
rs299218	1.00[ASN][1000 genomes]
rs4243445	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576176	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4588617	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4895361	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6595175	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6859673	1.00[ASN][1000 genomes]
rs6860432	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6896024	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9327090	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
3	chr5:118483000-118541400	Weak transcription	NHEK	skin
4	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
6	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
7	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
8	chr5:118486200-118526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
11	chr5:118490800-118526000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:118490800-118526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:118490800-118532000	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:118491200-118532400	Weak transcription	Fetal Kidney	kidney
15	chr5:118493400-118528000	Weak transcription	Fetal Brain Female	brain
16	chr5:118494600-118534600	Weak transcription	Psoas Muscle	Psoas
17	chr5:118497200-118532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:118497800-118534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:118497800-118535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:118498000-118534400	Weak transcription	Lung	lung
21	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
22	chr5:118499800-118534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:118501800-118526000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:118501800-118533000	Weak transcription	Left Ventricle	heart
25	chr5:118501800-118533800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:118501800-118533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:118502000-118528600	Weak transcription	Fetal Thymus	thymus
28	chr5:118502400-118525200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:118503800-118585800	Weak transcription	NH-A	brain
30	chr5:118504600-118532600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:118504800-118533400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:118505400-118554600	Weak transcription	HepG2	liver
33	chr5:118507000-118533400	Weak transcription	HSMMtube	muscle
34	chr5:118507800-118580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:118510000-118526000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:118510000-118532800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:118510000-118533400	Weak transcription	Aorta	Aorta
38	chr5:118510800-118533800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:118514200-118534000	Weak transcription	Brain Germinal Matrix	brain
40	chr5:118514400-118525400	Weak transcription	Fetal Intestine Large	intestine
41	chr5:118514400-118525400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:118514400-118526800	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:118514400-118526800	Weak transcription	Ovary	ovary
44	chr5:118514400-118529800	Weak transcription	Placenta	Placenta
45	chr5:118514400-118532800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:118514400-118533200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:118514400-118533400	Weak transcription	Brain Anterior Caudate	brain
48	chr5:118514400-118533400	Weak transcription	Gastric	stomach
49	chr5:118514400-118533400	Weak transcription	Thymus	Thymus
50	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea

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