Variant report

Variant	rs12982628
Chromosome Location	chr19:19683357-19683358
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19672620..19675069-chr19:19682822..19684803,2	K562	blood:

Variant related genes	Relation type
ENSG00000105717	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12611058	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12974028	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12977917	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12981270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985142	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1476459	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33982830	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34096655	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34316070	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34316527	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34324119	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34424437	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35209041	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35437712	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35553578	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35842591	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56083851	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62134460	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62137783	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62137816	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62137820	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62137822	0.87[EUR][1000 genomes]
rs7247165	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73004920	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750216	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19652000-19688400	Weak transcription	Right Atrium	heart
2	chr19:19652600-19686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:19659200-19686200	Weak transcription	Fetal Brain Male	brain
4	chr19:19665600-19685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:19669400-19683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:19671000-19686200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:19671200-19686400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:19671200-19686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:19671600-19701800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr19:19672000-19704800	Weak transcription	Brain Angular Gyrus	brain
11	chr19:19674200-19689200	Weak transcription	Brain Substantia Nigra	brain
12	chr19:19674200-19690600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:19674200-19690800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:19674200-19691000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:19674200-19699800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:19674400-19690600	Weak transcription	Stomach Mucosa	stomach
17	chr19:19676200-19701600	Weak transcription	GM12878-XiMat	blood
18	chr19:19678800-19686200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19678800-19686200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:19678800-19693000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:19679800-19690600	Weak transcription	NHEK	skin
22	chr19:19680200-19687600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:19680400-19689200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:19680400-19690400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:19681000-19689000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:19681200-19686400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:19681200-19688400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr19:19681200-19688600	Weak transcription	Fetal Muscle Leg	muscle
29	chr19:19681200-19689200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:19681200-19701600	Weak transcription	NHLF	lung
31	chr19:19681400-19686200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:19681400-19690000	Weak transcription	Lung	lung
33	chr19:19681400-19690600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:19681400-19690600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:19681400-19690600	Weak transcription	Gastric	stomach
36	chr19:19681400-19690800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:19681400-19701600	Weak transcription	Fetal Lung	lung
38	chr19:19681600-19683400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:19681600-19683400	Weak transcription	Brain Anterior Caudate	brain
40	chr19:19681600-19683600	Weak transcription	Ovary	ovary
41	chr19:19681600-19689000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:19681600-19690800	Weak transcription	Primary T cells from cord blood	blood
43	chr19:19681600-19693000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19681600-19701600	Weak transcription	Esophagus	oesophagus
45	chr19:19681600-19703200	Weak transcription	Dnd41	blood
46	chr19:19681800-19685200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:19681800-19690600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:19681800-19691000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr19:19681800-19692800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:19682000-19686200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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