Variant report

Variant	rs11747104
Chromosome Location	chr5:58505337-58505338
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs153969	0.86[EUR][1000 genomes]
rs1867724	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs464311	0.81[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:39 , 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	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
12	chr5:58492000-58505600	Weak transcription	Hela-S3	cervix
13	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:58496200-58515600	Weak transcription	Fetal Kidney	kidney
17	chr5:58498600-58506200	Weak transcription	Aorta	Aorta
18	chr5:58500200-58506400	Enhancers	Rectal Smooth Muscle	rectum
19	chr5:58501800-58505800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:58501800-58512400	Weak transcription	Fetal Brain Male	brain
21	chr5:58502000-58509000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:58502000-58517200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:58502400-58505600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:58502400-58508800	Weak transcription	HSMMtube	muscle
25	chr5:58502400-58509600	Weak transcription	Fetal Heart	heart
26	chr5:58502400-58509600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:58502600-58505800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:58502800-58505400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:58503000-58505600	Weak transcription	Right Atrium	heart
30	chr5:58503000-58505800	Weak transcription	Left Ventricle	heart
31	chr5:58503000-58508400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:58503000-58509000	Weak transcription	Psoas Muscle	Psoas
33	chr5:58503200-58514400	Weak transcription	HUVEC	blood vessel
34	chr5:58503400-58505600	Weak transcription	Fetal Lung	lung
35	chr5:58504000-58506800	Enhancers	Colon Smooth Muscle	Colon
36	chr5:58504200-58510200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr5:58504600-58510200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:58504800-58505800	Strong transcription	A549	lung
39	chr5:58505000-58505400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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