Variant report

Variant	rs62107630
Chromosome Location	chr19:40851371-40851372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40851351..40853152-chr19:40892640..40895401,2	K562	blood:
2	chr19:40846921..40852460-chr19:40852861..40856555,6	K562	blood:
3	chr19:40851266..40855955-chr19:40945466..40950850,6	K562	blood:

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10408356	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10415181	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10416620	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10418932	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419465	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10420842	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10422343	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423896	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12151243	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16974157	0.93[EUR][1000 genomes]
rs2163840	0.84[ASN][1000 genomes]
rs28667591	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34716810	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55862427	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57804337	0.87[ASN][1000 genomes]
rs57885763	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58336440	0.93[EUR][1000 genomes]
rs58613082	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59010363	0.93[EUR][1000 genomes]
rs60869669	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61685259	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62107590	0.93[EUR][1000 genomes]
rs62107593	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62107594	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62107631	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247916	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7248012	0.83[ASN][1000 genomes]
rs7248861	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7254617	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8100207	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8111619	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8112998	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs892118	0.93[EUR][1000 genomes]
rs892119	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs892120	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304588	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9304589	0.93[EUR][1000 genomes];0.84[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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv2754051	chr19:40848081-40863842	Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
3	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
5	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
8	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
9	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
12	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:40840200-40852800	Weak transcription	HepG2	liver
15	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
16	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
19	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:40842200-40852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr19:40842200-40853200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:40842200-40853600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:40842200-40853600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:40842400-40852800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:40842400-40853000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:40842400-40853000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:40842400-40853400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:40842400-40853600	Weak transcription	Fetal Intestine Large	intestine
30	chr19:40842400-40853600	Weak transcription	Ovary	ovary
31	chr19:40842600-40853400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:40842800-40853000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:40842800-40853600	Weak transcription	Pancreas	Pancrea
34	chr19:40843000-40853000	Weak transcription	NH-A	brain
35	chr19:40843000-40853400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:40845400-40852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:40845400-40853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:40845400-40853200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr19:40845600-40852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:40845600-40852800	Weak transcription	Liver	Liver
41	chr19:40845600-40852800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:40845600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:40845600-40853200	Weak transcription	Primary B cells from cord blood	blood
44	chr19:40845600-40853400	Weak transcription	Fetal Lung	lung
45	chr19:40846000-40852800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:40846000-40853000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:40846200-40852800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:40846200-40853000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:40846200-40853400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:40846400-40852600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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