Variant report

Variant	rs72649420
Chromosome Location	chr4:76567343-76567344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76560792..76563538-chr4:76565983..76568591,2	K562	blood:
2	chr4:76559922..76562552-chr4:76562802..76567805,5	K562	blood:
3	chr4:76565197..76568229-chr4:76577343..76579851,3	K562	blood:
4	chr4:76566167..76568657-chr4:76571863..76573668,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17000766	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1801838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017607	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2037012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41398350	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56084244	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56151783	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56308338	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56693719	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56728961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57008925	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57099382	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58140957	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58822138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59405026	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59448225	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59684133	0.81[AFR][1000 genomes]
rs60332325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66606482	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67662392	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6812339	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68155345	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6818849	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6821144	1.00[AMR][1000 genomes]
rs6823013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6843244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6857983	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72649405	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879495	chr4:76493256-76585823	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv1793652	chr4:76521217-76581775	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76556200-76567600	Weak transcription	Liver	Liver
2	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
3	chr4:76556400-76567400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:76556400-76567400	Weak transcription	Placenta	Placenta
5	chr4:76556400-76567400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:76556400-76567800	Weak transcription	NHDF-Ad	bronchial
7	chr4:76556400-76568000	Weak transcription	Primary B cells from cord blood	blood
8	chr4:76556400-76568000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:76556400-76568000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:76556400-76568200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:76556400-76568600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:76556400-76568600	Weak transcription	GM12878-XiMat	blood
13	chr4:76556400-76568600	Weak transcription	HUVEC	blood vessel
14	chr4:76556400-76568600	Weak transcription	Osteobl	bone
15	chr4:76556400-76568800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:76556400-76568800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:76556400-76568800	Weak transcription	Thymus	Thymus
18	chr4:76556400-76568800	Weak transcription	NH-A	brain
19	chr4:76556400-76569000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:76556400-76569000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:76556400-76569000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:76556400-76569000	Weak transcription	Stomach Mucosa	stomach
23	chr4:76556400-76569800	Weak transcription	Psoas Muscle	Psoas
24	chr4:76556400-76570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:76556400-76570000	Weak transcription	Fetal Brain Male	brain
26	chr4:76556400-76570200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:76556400-76570600	Weak transcription	Esophagus	oesophagus
28	chr4:76556400-76570600	Weak transcription	Lung	lung
29	chr4:76556400-76570600	Weak transcription	Ovary	ovary
30	chr4:76556400-76570600	Weak transcription	Spleen	Spleen
31	chr4:76556600-76567400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:76556600-76567600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:76556600-76567600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:76556600-76567800	Weak transcription	A549	lung
35	chr4:76556600-76568000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:76556600-76568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:76556600-76568600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:76556600-76568600	Weak transcription	Primary T cells from cord blood	blood
39	chr4:76556600-76568600	Weak transcription	Fetal Lung	lung
40	chr4:76556600-76568600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:76556600-76568800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:76556600-76568800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:76556600-76568800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:76556600-76568800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:76556600-76568800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:76556600-76568800	Weak transcription	Brain Angular Gyrus	brain
47	chr4:76556600-76568800	Weak transcription	Fetal Intestine Large	intestine
48	chr4:76556600-76569000	Weak transcription	Brain Germinal Matrix	brain
49	chr4:76556600-76569200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:76556600-76569200	Weak transcription	Colon Smooth Muscle	Colon

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