Variant report

Variant	rs60063444
Chromosome Location	chr4:95509645-95509646
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	chr4:95508126..95511590-chr4:95512972..95515288,3	K562	blood:
2	chr4:95508126..95510888-chr4:95512972..95515677,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10019505	0.83[ASN][1000 genomes]
rs12500426	0.83[ASN][1000 genomes]
rs12639887	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12639980	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12642449	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12648941	0.81[ASN][1000 genomes]
rs12649976	0.84[ASN][1000 genomes]
rs13122786	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13135257	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17394213	0.84[AFR][1000 genomes]
rs2172448	0.82[ASN][1000 genomes]
rs2452601	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510768	0.84[AFR][1000 genomes]
rs2510769	0.84[AFR][1000 genomes]
rs28740868	0.81[EUR][1000 genomes]
rs3805263	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3805264	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805266	0.81[ASN][1000 genomes]
rs3843444	0.81[ASN][1000 genomes]
rs4634230	0.83[ASN][1000 genomes]
rs5013417	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532491	0.83[ASN][1000 genomes]
rs7662466	0.81[ASN][1000 genomes]
rs7697149	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs973995	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:95489200-95509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:95489600-95522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
6	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:95497200-95511000	Weak transcription	Ovary	ovary
8	chr4:95497200-95512600	Weak transcription	Aorta	Aorta
9	chr4:95497200-95512600	Weak transcription	Pancreas	Pancrea
10	chr4:95497200-95513800	Weak transcription	Right Ventricle	heart
11	chr4:95497200-95516200	Weak transcription	Right Atrium	heart
12	chr4:95497200-95520000	Weak transcription	Spleen	Spleen
13	chr4:95497200-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:95497200-95524600	Weak transcription	Gastric	stomach
15	chr4:95497200-95524600	Weak transcription	Lung	lung
16	chr4:95497200-95526000	Weak transcription	Brain Angular Gyrus	brain
17	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
19	chr4:95497400-95510200	Weak transcription	Fetal Kidney	kidney
20	chr4:95497400-95513600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:95497400-95515000	Weak transcription	Colonic Mucosa	Colon
22	chr4:95497400-95524200	Weak transcription	NHLF	lung
23	chr4:95497400-95526200	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:95497400-95542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:95497600-95510400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:95497600-95513600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:95497600-95539200	Weak transcription	HepG2	liver
28	chr4:95498400-95526200	Weak transcription	Brain Anterior Caudate	brain
29	chr4:95498600-95513400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr4:95498800-95511800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:95499000-95516400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:95499800-95510200	Weak transcription	NHDF-Ad	bronchial
33	chr4:95499800-95515400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:95501200-95510000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:95502800-95512600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:95503200-95516000	Weak transcription	Stomach Mucosa	stomach
37	chr4:95504000-95509800	Weak transcription	Fetal Heart	heart
38	chr4:95504200-95510400	Strong transcription	HUVEC	blood vessel
39	chr4:95504600-95517400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:95505000-95510600	Strong transcription	A549	lung
41	chr4:95505000-95511600	Strong transcription	NH-A	brain
42	chr4:95505000-95515000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:95505200-95516800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr4:95505400-95509800	Strong transcription	Osteobl	bone
45	chr4:95505400-95510200	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:95505400-95515800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:95505600-95510200	Strong transcription	HSMM	muscle
48	chr4:95505600-95513000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:95505600-95517000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:95505800-95516000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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