Variant report

Variant	rs1550270
Chromosome Location	chr4:166261800-166261801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166254481..166256226-chr4:166260007..166262078,2	K562	blood:
2	chr4:166260940..166262583-chr4:166265474..166268224,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11100606	0.90[EUR][1000 genomes]
rs12501541	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12512757	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12641145	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs1438116	0.86[ASN][1000 genomes]
rs1550271	0.90[ASN][1000 genomes]
rs17686529	0.90[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1866218	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1866219	0.90[ASN][1000 genomes]
rs2118496	0.90[ASN][1000 genomes]
rs2322292	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs35411578	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3775318	0.90[ASN][1000 genomes]
rs4691183	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs62352298	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs756090	0.90[ASN][1000 genomes]
rs7667236	0.81[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7669547	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7670057	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7690328	0.90[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7698915	0.90[ASN][1000 genomes]
rs8733	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs934817	0.90[ASN][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	esv1847399	chr4:166259587-166284836	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1550270	CPE	cis	multi-tissue	Pritchard
rs1550270	KLHL2	cis	cerebellum	SCAN

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166249600-166266600	Weak transcription	Left Ventricle	heart
2	chr4:166249800-166262400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:166249800-166262600	Weak transcription	Thymus	Thymus
4	chr4:166250000-166264600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:166250200-166262600	Weak transcription	Spleen	Spleen
6	chr4:166250200-166262800	Weak transcription	Right Ventricle	heart
7	chr4:166250200-166263800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:166250200-166265000	Weak transcription	Psoas Muscle	Psoas
9	chr4:166250200-166265200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:166250400-166262600	Weak transcription	Aorta	Aorta
11	chr4:166250600-166263200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:166250600-166265400	Weak transcription	Colonic Mucosa	Colon
13	chr4:166250600-166266800	Weak transcription	A549	lung
14	chr4:166252200-166269200	Weak transcription	Stomach Mucosa	stomach
15	chr4:166252200-166269400	Weak transcription	Gastric	stomach
16	chr4:166253400-166263000	Weak transcription	Pancreas	Pancrea
17	chr4:166253400-166272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:166253600-166265400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:166253800-166265200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:166253800-166266600	Weak transcription	Small Intestine	intestine
21	chr4:166254000-166264600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:166254000-166264800	Weak transcription	Hela-S3	cervix
23	chr4:166254000-166265200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:166254000-166265200	Strong transcription	NHDF-Ad	bronchial
25	chr4:166254000-166269400	Weak transcription	Fetal Heart	heart
26	chr4:166254200-166264200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:166254200-166265200	Strong transcription	Fetal Thymus	thymus
28	chr4:166254400-166263200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr4:166254600-166265200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:166254600-166265400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:166254800-166264200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr4:166255000-166263600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:166255000-166264200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr4:166255000-166264600	Strong transcription	HSMM	muscle
35	chr4:166255600-166265400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:166255800-166265200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:166255800-166265400	Strong transcription	HUVEC	blood vessel
38	chr4:166255800-166266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:166256400-166264600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:166256600-166264800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:166256600-166265200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:166256800-166264200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:166256800-166264400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:166256800-166265200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:166256800-166265200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:166257000-166263400	Strong transcription	NH-A	brain
47	chr4:166257000-166265200	Strong transcription	HMEC	breast
48	chr4:166257400-166265400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:166257600-166263800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:166257600-166265200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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