Variant report

Variant	rs1549900
Chromosome Location	chr5:145210489-145210490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145203763..145206199-chr5:145209923..145212863,2	K562	blood:
2	chr5:145207820..145210884-chr5:145212299..145217868,7	K562	blood:
3	chr5:145209353..145211706-chr5:145407093..145409192,2	MCF-7	breast:
4	chr5:145207166..145210517-chr5:145212091..145218293,8	K562	blood:

Variant related genes	Relation type
ENSG00000186314	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10052931	0.95[EUR][1000 genomes]
rs11742313	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951153	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2029486	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2087562	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs340044	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340046	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340047	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs394386	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334931	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4495235	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4529254	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs453090	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs620327	0.92[ASN][1000 genomes]
rs663205	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs681582	0.97[ASN][1000 genomes]
rs6870210	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6898776	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72816435	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7704574	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9716744	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	esv19333	chr5:145209035-145213523	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145162800-145212800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:145170600-145213400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:145172800-145214200	Weak transcription	Right Ventricle	heart
4	chr5:145183600-145214000	Weak transcription	Fetal Kidney	kidney
5	chr5:145195200-145212800	Weak transcription	Colonic Mucosa	Colon
6	chr5:145196200-145211800	Weak transcription	Gastric	stomach
7	chr5:145196800-145214000	Weak transcription	Fetal Stomach	stomach
8	chr5:145198000-145213600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:145198800-145212000	Weak transcription	Aorta	Aorta
10	chr5:145201400-145214200	Weak transcription	Lung	lung
11	chr5:145207200-145214200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:145207400-145212600	Weak transcription	Fetal Intestine Small	intestine
13	chr5:145207400-145212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:145207400-145213800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:145207400-145214000	Weak transcription	NHEK	skin
16	chr5:145208400-145213600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:145208800-145213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:145209000-145210800	Enhancers	Liver	Liver
19	chr5:145209000-145211000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:145209000-145211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:145209000-145211200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:145209000-145211200	Enhancers	HUVEC	blood vessel
23	chr5:145209000-145211400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:145209000-145211600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:145209000-145211600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:145209000-145213400	Enhancers	HepG2	liver
27	chr5:145209200-145211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:145209200-145211000	Enhancers	Fetal Lung	lung
29	chr5:145209200-145211000	Enhancers	NHLF	lung
30	chr5:145209200-145211000	Enhancers	Osteobl	bone
31	chr5:145209200-145211200	Enhancers	Primary hematopoietic stem cells	blood
32	chr5:145209200-145211200	Enhancers	Colon Smooth Muscle	Colon
33	chr5:145209200-145211400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:145209200-145212600	Enhancers	K562	blood
35	chr5:145209400-145212800	Weak transcription	Ovary	ovary
36	chr5:145209400-145212800	Weak transcription	Pancreas	Pancrea
37	chr5:145209600-145211200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:145209600-145211200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:145209600-145213200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:145209800-145210600	Enhancers	Primary T cells from cord blood	blood
41	chr5:145209800-145212200	Weak transcription	Fetal Intestine Large	intestine
42	chr5:145209800-145214000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:145209800-145214200	Weak transcription	Small Intestine	intestine
44	chr5:145209800-145214200	Weak transcription	Hela-S3	cervix
45	chr5:145210000-145210600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:145210000-145210800	Weak transcription	Left Ventricle	heart
47	chr5:145210000-145211400	Weak transcription	Stomach Mucosa	stomach
48	chr5:145210200-145210800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:145210400-145210600	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:145210400-145210600	Weak transcription	HSMMtube	muscle

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