Variant report

Variant	rs9968728
Chromosome Location	chr5:58418981-58418982
allele	C/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:4)

rs_ID	r²[population]
rs10044159	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57514625	0.81[AFR][1000 genomes]
rs6886791	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
5	chr5:58412400-58419600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:58412600-58419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:58412600-58420000	Weak transcription	HSMMtube	muscle
8	chr5:58412800-58419600	Weak transcription	Hela-S3	cervix
9	chr5:58414000-58419200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58414200-58419400	Weak transcription	Fetal Lung	lung
11	chr5:58414200-58419600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:58414600-58419600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:58414600-58421200	Weak transcription	Left Ventricle	heart
14	chr5:58414600-58422600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:58414800-58419400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:58414800-58419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:58414800-58422800	Weak transcription	Stomach Mucosa	stomach
18	chr5:58415600-58419000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:58418000-58419600	Weak transcription	Psoas Muscle	Psoas
20	chr5:58418200-58419800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr5:58418200-58420000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:58418200-58421200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:58418200-58421200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:58418200-58422800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr5:58418400-58419600	Weak transcription	Thymus	Thymus
26	chr5:58418400-58419800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:58418400-58420800	Flanking Active TSS	A549	lung
28	chr5:58418400-58421200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:58418600-58419200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr5:58418600-58419400	Weak transcription	HSMM	muscle
31	chr5:58418600-58420600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr5:58418600-58422800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:58418600-58422800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr5:58418600-58423000	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:58418800-58419000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:58418800-58419000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:58418800-58419000	Enhancers	GM12878-XiMat	blood
39	chr5:58418800-58420400	Enhancers	Stomach Smooth Muscle	stomach
40	chr5:58418800-58420600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:58418800-58420600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:58418800-58422600	Enhancers	Fetal Heart	heart
43	chr5:58418800-58422800	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr5:58418800-58422800	Enhancers	Fetal Thymus	thymus

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