Variant report

Variant	rs2396580
Chromosome Location	chr6:45924439-45924440
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	chr6:44628849..44631446-chr6:45923320..45924995,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1001938	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11757345	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204333	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1204334	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1204335	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12192179	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12198337	0.86[ASN][1000 genomes]
rs12211807	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1308732	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1890368	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890369	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1999908	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734206	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777582	0.97[ASN][1000 genomes]
rs3777583	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777587	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777589	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777590	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777591	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777592	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236087	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236088	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4236089	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4429946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4563714	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711834	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711835	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711836	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711837	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4714892	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714893	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714894	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714895	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6909306	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6922752	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73460651	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45912800-45928400	Weak transcription	Spleen	Spleen
2	chr6:45917200-45924800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:45918800-45938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:45919600-45928000	Weak transcription	Adipose Nuclei	Adipose
5	chr6:45920000-45927200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:45920000-45927200	Weak transcription	Placenta	Placenta
7	chr6:45920000-45928200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:45920000-45934800	Weak transcription	Colonic Mucosa	Colon
9	chr6:45920200-45926600	Weak transcription	Fetal Lung	lung
10	chr6:45921200-45928200	Weak transcription	Lung	lung
11	chr6:45921400-45926800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:45922400-45924800	Genic enhancers	Right Ventricle	heart
13	chr6:45922400-45925800	Enhancers	Psoas Muscle	Psoas
14	chr6:45923000-45925400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:45923200-45924600	Weak transcription	Left Ventricle	heart
16	chr6:45923200-45925600	Weak transcription	Right Atrium	heart
17	chr6:45923200-45927400	Weak transcription	Fetal Kidney	kidney
18	chr6:45923200-45929200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:45923200-45931200	Weak transcription	Fetal Intestine Large	intestine
20	chr6:45923400-45924600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:45923400-45924600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:45923400-45924800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:45923400-45925200	Weak transcription	Fetal Heart	heart
24	chr6:45923600-45924600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:45923600-45924800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:45923800-45924600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:45923800-45925200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:45923800-45925600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:45924000-45924600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:45924200-45928200	Weak transcription	Small Intestine	intestine
31	chr6:45924400-45924600	Genic enhancers	Rectal Mucosa Donor 29	rectum
32	chr6:45924400-45924800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:45924400-45931000	Weak transcription	Fetal Intestine Small	intestine

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