Variant report

Variant	rs28580527
Chromosome Location	chr4:151439627-151439628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151435911..151437740-chr4:151439092..151440946,2	K562	blood:
2	chr4:151439292..151441236-chr4:151444878..151447222,2	K562	blood:
3	chr4:151438844..151440792-chr4:151444543..151446378,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10003085	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10009219	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10021103	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10021676	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10027582	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10213297	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471055	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11099767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099768	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12500679	0.87[ASN][1000 genomes]
rs12507269	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12511109	0.87[ASN][1000 genomes]
rs1504782	0.81[ASN][1000 genomes]
rs17026968	0.87[ASN][1000 genomes]
rs17026978	0.85[ASN][1000 genomes]
rs28360888	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28367335	0.86[ASN][1000 genomes]
rs28373637	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28405183	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28446645	0.81[ASN][1000 genomes]
rs28447376	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28460294	0.81[ASN][1000 genomes]
rs28490505	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28533051	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28639783	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28643547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28797934	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3922785	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4419456	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59515357	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61520262	0.87[ASN][1000 genomes]
rs61655905	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6813081	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6832909	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6843987	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847441	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6856287	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6858706	0.82[ASN][1000 genomes]
rs72955894	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72957852	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957869	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72957890	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72959804	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7659148	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7664323	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7674390	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7691319	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7691594	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7699621	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7699721	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9307878	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9761873	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9968356	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9968436	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3445246	chr4:151422396-151447936	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1018942	chr4:151423295-151556444	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv537301	chr4:151423295-151556444	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151385400-151442200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:151409000-151456600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:151410000-151444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:151422800-151474600	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151431800-151439800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:151433800-151444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:151435800-151452600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:151436000-151443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:151436200-151452000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:151439000-151440600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:151439200-151440200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:151439200-151440200	Enhancers	Hela-S3	cervix
13	chr4:151439200-151440200	Enhancers	HMEC	breast
14	chr4:151439200-151440200	Enhancers	NHEK	skin
15	chr4:151439200-151441200	Enhancers	A549	lung
16	chr4:151439400-151440000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:151439400-151440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:151439400-151440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:151439400-151440200	Enhancers	NH-A	brain
20	chr4:151439400-151440400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:151439400-151441000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:151439400-151441000	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:151439600-151439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:151439600-151440000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:151439600-151440000	Enhancers	Fetal Intestine Small	intestine
26	chr4:151439600-151440200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:151439600-151440200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:151439600-151440200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:151439600-151440200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:151439600-151440400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:151439600-151440400	Enhancers	HUVEC	blood vessel

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