Variant report

Variant	rs1445947
Chromosome Location	chr5:58506187-58506188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12656944	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12658429	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs154223	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.91[ASN][1000 genomes]
rs168834	0.91[ASN][1000 genomes]
rs16889611	1.00[CEU][hapmap]
rs16889682	1.00[CEU][hapmap]
rs16889696	1.00[CEU][hapmap]
rs16889743	1.00[CEU][hapmap]
rs17589745	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs27185	1.00[CEU][hapmap]
rs27532	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6450516	1.00[CEU][hapmap]
rs6450518	1.00[CEU][hapmap]
rs6872808	1.00[CEU][hapmap]
rs6889851	1.00[CEU][hapmap]
rs6895685	1.00[CEU][hapmap]
rs6898269	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs72644097	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72644098	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7700870	1.00[CEU][hapmap]
rs7703702	1.00[CEU][hapmap]
rs7736808	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
4	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
6	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:58490000-58511600	Weak transcription	Gastric	stomach
8	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
10	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
11	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:58496200-58515600	Weak transcription	Fetal Kidney	kidney
15	chr5:58498600-58506200	Weak transcription	Aorta	Aorta
16	chr5:58500200-58506400	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:58501800-58512400	Weak transcription	Fetal Brain Male	brain
18	chr5:58502000-58509000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:58502000-58517200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:58502400-58508800	Weak transcription	HSMMtube	muscle
21	chr5:58502400-58509600	Weak transcription	Fetal Heart	heart
22	chr5:58502400-58509600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:58503000-58508400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:58503000-58509000	Weak transcription	Psoas Muscle	Psoas
25	chr5:58503200-58514400	Weak transcription	HUVEC	blood vessel
26	chr5:58504000-58506800	Enhancers	Colon Smooth Muscle	Colon
27	chr5:58504200-58510200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:58504600-58510200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:58505600-58506200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr5:58505600-58507200	Strong transcription	Hela-S3	cervix
31	chr5:58505800-58506400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:58505800-58506400	Genic enhancers	Left Ventricle	heart
33	chr5:58505800-58506600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr5:58505800-58506600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:58505800-58512000	Genic enhancers	A549	lung
36	chr5:58506000-58509600	Weak transcription	Fetal Lung	lung
37	chr5:58506000-58509800	Weak transcription	Stomach Smooth Muscle	stomach

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