Variant report

Variant	rs73020636
Chromosome Location	chr19:21265957-21265958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:21238270..21239771-chr19:21264302..21266943,2	K562	blood:
2	chr19:21246343..21248444-chr19:21263959..21266875,2	K562	blood:
3	chr17:57969004..57971186-chr19:21264179..21266125,2	MCF-7	breast:
4	chr19:21203269..21205162-chr19:21263863..21266449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268598	Chromatin interaction
ENSG00000118620	Chromatin interaction
ENSG00000265650	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000108423	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10413569	0.89[EUR][1000 genomes]
rs10413841	0.86[EUR][1000 genomes]
rs10416447	0.89[EUR][1000 genomes]
rs10425841	0.98[EUR][1000 genomes]
rs11085427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11085429	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12052091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12150909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151107	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17618418	0.87[EUR][1000 genomes]
rs2358793	0.95[EUR][1000 genomes]
rs3919641	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3937493	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4580323	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61733856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66693308	1.00[EUR][1000 genomes]
rs73012909	0.87[EUR][1000 genomes]
rs73012916	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012919	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012925	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012931	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73012943	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014828	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014838	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014844	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014854	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014855	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014863	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73014868	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73018961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73018978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73019002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020625	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020644	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73020661	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022623	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022624	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022630	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73022634	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022639	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73022640	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73022648	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73022667	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024637	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024645	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024647	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024648	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024655	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024657	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024662	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024665	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73024668	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024670	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024671	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024674	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024675	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024685	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73024688	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026655	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026661	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73026693	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
2	chr19:21264600-21266000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:21264600-21266000	Active TSS	Fetal Brain Female	brain
4	chr19:21264600-21266000	Active TSS	Fetal Intestine Small	intestine
5	chr19:21264600-21266200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:21264600-21266200	Active TSS	GM12878-XiMat	blood
7	chr19:21264800-21266000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:21264800-21266000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:21264800-21266000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21264800-21266000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:21264800-21266000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:21264800-21266000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:21264800-21266000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:21264800-21266000	Active TSS	Brain Anterior Caudate	brain
15	chr19:21264800-21266000	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:21264800-21266000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:21264800-21266000	Active TSS	Fetal Intestine Large	intestine
18	chr19:21264800-21266000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:21264800-21266000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr19:21264800-21266000	Active TSS	A549	lung
21	chr19:21264800-21266000	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr19:21264800-21266000	Active TSS	NH-A	brain
23	chr19:21264800-21266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:21264800-21266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:21264800-21266200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:21264800-21266200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:21264800-21266200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:21264800-21266200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:21264800-21266200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:21264800-21266200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr19:21264800-21266200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:21264800-21266200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:21264800-21266200	Active TSS	HSMMtube	muscle
34	chr19:21264800-21266200	Active TSS	Osteobl	bone
35	chr19:21264800-21266400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:21264800-21266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr19:21264800-21266400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:21264800-21266400	Active TSS	Brain Germinal Matrix	brain
39	chr19:21264800-21266400	Active TSS	HSMM	muscle
40	chr19:21264800-21266600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:21264800-21266600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr19:21264800-21266600	Active TSS	Ovary	ovary
43	chr19:21265000-21266000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr19:21265000-21266000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:21265000-21266000	Active TSS	Primary hematopoietic stem cells	blood
46	chr19:21265000-21266000	Active TSS	Fetal Kidney	kidney
47	chr19:21265000-21266000	Active TSS	HMEC	breast
48	chr19:21265000-21266200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr19:21265000-21266200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:21265000-21266200	Active TSS	Rectal Smooth Muscle	rectum

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