Variant report

Variant	rs9293683
Chromosome Location	chr5:75700310-75700311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10942768	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs10942770	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13157262	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13183341	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17652073	1.00[CHB][hapmap]
rs34483409	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4314381	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4382145	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496694	0.81[EUR][1000 genomes]
rs6874833	0.84[EUR][1000 genomes]
rs6888419	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs6888428	0.83[EUR][1000 genomes]
rs9293684	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3349228	chr5:75698646-75701144	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75697600-75701200	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:75697800-75700400	Active TSS	Fetal Lung	lung
3	chr5:75697800-75700600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:75697800-75701200	Active TSS	Right Atrium	heart
5	chr5:75697800-75702000	Active TSS	Fetal Kidney	kidney
6	chr5:75698000-75700400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:75698000-75700400	Active TSS	Pancreas	Pancrea
8	chr5:75698000-75700600	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr5:75698200-75700400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:75698200-75700400	Active TSS	Stomach Mucosa	stomach
11	chr5:75698200-75700600	Active TSS	Colon Smooth Muscle	Colon
12	chr5:75698200-75700800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:75698200-75700800	Active TSS	Left Ventricle	heart
14	chr5:75698200-75700800	Active TSS	Right Ventricle	heart
15	chr5:75698400-75700400	Active TSS	Colonic Mucosa	Colon
16	chr5:75698400-75700600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:75698400-75700800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
18	chr5:75698600-75700400	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr5:75698800-75700400	Active TSS	Small Intestine	intestine
20	chr5:75698800-75700800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:75698800-75701000	Active TSS	Gastric	stomach
22	chr5:75698800-75701200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:75699000-75700400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr5:75699200-75701600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr5:75699400-75700400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:75699400-75700600	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr5:75699400-75700600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr5:75699600-75700400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:75699600-75700800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr5:75699600-75700800	Active TSS	Brain Hippocampus Middle	brain
31	chr5:75699600-75701200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr5:75699800-75700400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:75699800-75700400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:75699800-75700400	Active TSS	Brain Cingulate Gyrus	brain
35	chr5:75699800-75700600	Active TSS	Brain Anterior Caudate	brain
36	chr5:75699800-75700600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
37	chr5:75699800-75701600	Active TSS	Adipose Nuclei	Adipose
38	chr5:75699800-75701600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr5:75700000-75700400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:75700000-75700400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:75700000-75700400	Flanking Active TSS	Esophagus	oesophagus
42	chr5:75700000-75700400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr5:75700000-75700400	Weak transcription	Spleen	Spleen
44	chr5:75700000-75700800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:75700000-75700800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr5:75700000-75700800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr5:75700000-75700800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:75700000-75700800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr5:75700000-75700800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
50	chr5:75700000-75700800	Flanking Active TSS	Fetal Thymus	thymus

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