Variant report

Variant	rs62121818
Chromosome Location	chr19:39167760-39167761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39165775..39169288-chr19:39170285..39176842,12	K562	blood:
2	chr19:39147217..39149377-chr19:39166896..39169670,2	K562	blood:
3	chr19:39033486..39035242-chr19:39166999..39169094,2	K562	blood:
4	chr19:39127191..39129568-chr19:39165594..39168572,2	K562	blood:
5	chr19:39145322..39147138-chr19:39167386..39170239,2	K562	blood:
6	chr19:39165622..39167893-chr19:39189221..39191148,2	K562	blood:
7	chr19:39166875..39169119-chr19:39190078..39191942,2	MCF-7	breast:
8	chr19:39166293..39168892-chr19:39172787..39174443,3	MCF-7	breast:
9	chr19:39164276..39166665-chr19:39166865..39169150,2	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10403540	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10404257	0.80[ASN][1000 genomes]
rs10406778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415219	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10415646	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10421560	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11083475	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12460849	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12462270	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13343794	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16972767	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2279144	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303040	0.84[EUR][1000 genomes]
rs28488032	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28624276	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3745859	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3786835	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3786837	0.92[EUR][1000 genomes]
rs3786839	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3786845	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3786848	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3786851	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3810341	0.87[ASN][1000 genomes]
rs55876653	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55945853	0.83[EUR][1000 genomes]
rs56113315	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56365761	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62120083	0.82[EUR][1000 genomes]
rs62121814	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62121816	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7251903	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7252589	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254100	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8111746	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs883394	0.91[EUR][1000 genomes]
rs883433	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs979971	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979972	0.85[EUR][1000 genomes];0.86[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	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS 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	25 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	chr19:39159600-39169600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr19:39160400-39173400	Weak transcription	Brain Germinal Matrix	brain
3	chr19:39161200-39176000	Weak transcription	Fetal Brain Male	brain
4	chr19:39161200-39176000	Weak transcription	Fetal Brain Female	brain
5	chr19:39162200-39173400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:39162400-39172000	Enhancers	Left Ventricle	heart
7	chr19:39162600-39169400	Genic enhancers	A549	lung
8	chr19:39162800-39169400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:39162800-39173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:39164400-39172600	Enhancers	Small Intestine	intestine
11	chr19:39164400-39200200	Genic enhancers	Fetal Intestine Small	intestine
12	chr19:39164600-39167800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:39164600-39167800	Enhancers	Fetal Lung	lung
14	chr19:39164600-39168000	Genic enhancers	Fetal Stomach	stomach
15	chr19:39164600-39170400	Enhancers	Right Atrium	heart
16	chr19:39164600-39170800	Genic enhancers	Osteobl	bone
17	chr19:39164600-39173800	Genic enhancers	HepG2	liver
18	chr19:39164600-39178200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:39164800-39167800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:39164800-39167800	Enhancers	Brain Anterior Caudate	brain
21	chr19:39164800-39167800	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:39164800-39167800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr19:39164800-39167800	Genic enhancers	HSMM	muscle
24	chr19:39164800-39168400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:39164800-39169800	Enhancers	Primary hematopoietic stem cells	blood
26	chr19:39164800-39170200	Genic enhancers	Rectal Mucosa Donor 29	rectum
27	chr19:39164800-39170600	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:39164800-39170800	Enhancers	Brain Hippocampus Middle	brain
29	chr19:39164800-39170800	Enhancers	Psoas Muscle	Psoas
30	chr19:39164800-39171000	Genic enhancers	Rectal Mucosa Donor 31	rectum
31	chr19:39164800-39171400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:39164800-39172600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:39164800-39173800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:39164800-39177600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr19:39164800-39179200	Enhancers	Pancreas	Pancrea
36	chr19:39164800-39179800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr19:39164800-39183800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:39165000-39168400	Enhancers	Brain Angular Gyrus	brain
39	chr19:39165000-39174200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr19:39165200-39171800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:39165400-39168000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr19:39165400-39172000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
43	chr19:39165400-39172600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr19:39165400-39178200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:39165600-39167800	Enhancers	NHDF-Ad	bronchial
46	chr19:39165600-39168000	Enhancers	HUVEC	blood vessel
47	chr19:39165600-39168200	Genic enhancers	Colonic Mucosa	Colon
48	chr19:39165600-39169600	Genic enhancers	Spleen	Spleen
49	chr19:39165600-39171200	Enhancers	GM12878-XiMat	blood
50	chr19:39165600-39172000	Enhancers	Skeletal Muscle Female	skeletal muscle

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