Variant report

Variant	rs72810378
Chromosome Location	chr2:58428318-58428319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58427142..58430868-chr2:58432407..58434605,4	K562	blood:
2	chr2:58428111..58430458-chr2:58435742..58437845,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10178325	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10490253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13417865	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13418724	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13421853	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17049396	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17049403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049420	0.93[ASN][1000 genomes]
rs17049422	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28588526	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28668929	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57033851	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57344611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58059919	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60176808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62140034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62140040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62140041	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62140043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62140045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62140046	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62140047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62140048	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62140049	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62140050	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62140051	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62141871	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810371	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72810375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72810377	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72810393	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72810396	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1804150	chr2:58418501-58431168	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:58388800-58437400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:58389600-58431000	Weak transcription	HUVEC	blood vessel
5	chr2:58391000-58467000	Weak transcription	HMEC	breast
6	chr2:58396400-58438000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:58396400-58438000	Weak transcription	Pancreas	Pancrea
8	chr2:58397800-58442600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:58398000-58437800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:58399400-58437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:58400400-58437800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:58403000-58439400	Weak transcription	HSMM	muscle
13	chr2:58403600-58434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:58403600-58437200	Weak transcription	Fetal Brain Female	brain
15	chr2:58411600-58437400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:58413800-58438000	Weak transcription	Thymus	Thymus
17	chr2:58414000-58437600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:58414000-58461400	Weak transcription	NHEK	skin
19	chr2:58414200-58429800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:58414200-58435800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:58414400-58438000	Weak transcription	Esophagus	oesophagus
22	chr2:58414600-58437400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:58414600-58437400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:58415000-58430400	Weak transcription	NHDF-Ad	bronchial
25	chr2:58415000-58437600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:58415400-58434000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:58415800-58437400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:58416000-58437400	Weak transcription	Fetal Kidney	kidney
29	chr2:58416200-58437400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:58416400-58433400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:58416400-58434000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:58416400-58437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:58416400-58438000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:58417800-58439200	Weak transcription	Fetal Brain Male	brain
37	chr2:58420000-58432400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:58421600-58452400	Weak transcription	NH-A	brain
39	chr2:58421800-58430200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:58421800-58430800	Weak transcription	K562	blood
41	chr2:58422000-58429800	Weak transcription	Brain Substantia Nigra	brain
42	chr2:58422000-58434400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:58422000-58437400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:58422000-58442800	Weak transcription	Brain Angular Gyrus	brain
45	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
46	chr2:58423000-58432200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:58423800-58437400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:58424400-58432600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:58424400-58432800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:58424600-58431600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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