Variant report

Variant	rs249272
Chromosome Location	chr5:36185217-36185218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10512639	0.85[ASN][1000 genomes]
rs10941277	0.85[ASN][1000 genomes]
rs10941278	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10941279	0.85[ASN][1000 genomes]
rs10941281	0.85[ASN][1000 genomes]
rs11744207	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11747546	0.85[ASN][1000 genomes]
rs11952882	0.81[EUR][1000 genomes]
rs12522905	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13162876	0.81[EUR][1000 genomes]
rs13174907	0.80[EUR][1000 genomes]
rs13178531	0.80[EUR][1000 genomes]
rs16902835	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2432204	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2432205	0.82[EUR][1000 genomes]
rs249273	0.82[EUR][1000 genomes]
rs35647151	0.85[ASN][1000 genomes]
rs3761973	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3933496	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6451261	0.81[EUR][1000 genomes]
rs67399512	0.85[ASN][1000 genomes]
rs6881318	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72744549	0.86[ASN][1000 genomes]
rs72744564	0.84[ASN][1000 genomes]
rs72744565	0.83[ASN][1000 genomes]
rs7710062	0.81[EUR][1000 genomes]
rs7716788	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7719357	0.86[EUR][1000 genomes]
rs7719686	0.86[EUR][1000 genomes]
rs7723157	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36154400-36210800	Weak transcription	Small Intestine	intestine
2	chr5:36158600-36185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:36163800-36200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:36164800-36220800	Weak transcription	Gastric	stomach
5	chr5:36169200-36193200	Weak transcription	Pancreas	Pancrea
6	chr5:36169600-36202400	Weak transcription	Fetal Heart	heart
7	chr5:36171800-36220600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:36172000-36229200	Weak transcription	Colonic Mucosa	Colon
9	chr5:36172400-36189400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:36172400-36189600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:36174200-36195200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:36174400-36190800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:36175000-36189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:36175000-36191200	Weak transcription	Aorta	Aorta
15	chr5:36175000-36191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:36175200-36189600	Weak transcription	Spleen	Spleen
17	chr5:36175200-36202400	Weak transcription	Right Ventricle	heart
18	chr5:36175200-36220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:36175400-36189600	Weak transcription	Lung	lung
20	chr5:36175400-36190600	Weak transcription	Ovary	ovary
21	chr5:36175600-36195800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:36175600-36222400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:36177800-36186000	Weak transcription	Brain Germinal Matrix	brain
24	chr5:36179000-36189400	Weak transcription	Thymus	Thymus
25	chr5:36179000-36189600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:36179000-36189600	Weak transcription	Fetal Stomach	stomach
27	chr5:36179000-36222800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:36179000-36230000	Weak transcription	Psoas Muscle	Psoas
29	chr5:36179200-36199800	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:36179200-36210400	Weak transcription	Fetal Kidney	kidney
31	chr5:36179200-36212600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:36180400-36194800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:36180800-36197400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:36181200-36195000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:36181200-36202600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:36181400-36200600	Weak transcription	NHEK	skin
37	chr5:36181400-36212800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:36181800-36190200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:36181800-36195000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:36181800-36195000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:36182000-36190600	Weak transcription	Fetal Lung	lung
42	chr5:36182200-36188800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr5:36182200-36189600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:36182200-36190400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:36182200-36190600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:36182200-36190800	Weak transcription	Fetal Brain Male	brain
47	chr5:36182200-36191600	Weak transcription	Primary B cells from cord blood	blood
48	chr5:36182200-36192600	Weak transcription	NHDF-Ad	bronchial
49	chr5:36182200-36195000	Weak transcription	HMEC	breast
50	chr5:36182200-36195200	Weak transcription	K562	blood

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