Variant report

Variant	rs5743048
Chromosome Location	chr2:190688996-190688997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1046196	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233267	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1233270	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1233273	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1233274	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1233286	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13404927	0.82[EUR][1000 genomes]
rs2544054	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5742924	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742949	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742955	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742962	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742965	1.00[EUR][1000 genomes]
rs5742976	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742991	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742993	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742994	0.81[EUR][1000 genomes]
rs5742997	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743024	0.91[AFR][1000 genomes]
rs5743028	0.91[AFR][1000 genomes]
rs5743067	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743090	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743102	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743130	0.82[EUR][1000 genomes]
rs58147864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60386871	0.82[EUR][1000 genomes]
rs6750293	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73042330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73054342	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs735558	0.82[EUR][1000 genomes]
rs7579156	1.00[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	nsv3080	chr2:190661654-190706515	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190650400-190689800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:190650600-190693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
6	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
12	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
13	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:190665000-190696600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:190669600-190709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:190669600-190713200	Weak transcription	Ovary	ovary
20	chr2:190669800-190709000	Weak transcription	Placenta	Placenta
21	chr2:190670800-190712800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:190671000-190719600	Weak transcription	NH-A	brain
23	chr2:190675400-190690200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:190675400-190693800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:190676200-190712400	Weak transcription	K562	blood
26	chr2:190676400-190690400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:190677000-190709400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:190677400-190689800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:190681000-190743000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:190682400-190690600	Weak transcription	Brain Substantia Nigra	brain
31	chr2:190683800-190709800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:190684000-190690400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:190684000-190690400	Weak transcription	NHEK	skin
34	chr2:190684000-190692200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:190684000-190693600	Weak transcription	NHLF	lung
36	chr2:190684000-190693800	Weak transcription	Fetal Kidney	kidney
37	chr2:190684000-190700400	Weak transcription	A549	lung
38	chr2:190684000-190712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:190684000-190712800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:190684200-190690400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:190684200-190693000	Weak transcription	HSMM	muscle
43	chr2:190684400-190698800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:190684400-190700600	Weak transcription	Fetal Brain Male	brain
45	chr2:190684600-190690600	Weak transcription	HUVEC	blood vessel
46	chr2:190684600-190709800	Weak transcription	HMEC	breast
47	chr2:190684600-190712600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:190684600-190712600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:190685000-190694800	Weak transcription	Fetal Thymus	thymus
50	chr2:190685000-190700800	Weak transcription	Fetal Lung	lung

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