Variant report

Variant	rs7253188
Chromosome Location	chr19:55616428-55616429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55609257..55613232-chr19:55613674..55618222,6	K562	blood:
2	chr19:55609803..55612898-chr19:55614897..55617724,3	K562	blood:
3	chr19:55611452..55618868-chr19:55626160..55631612,12	K562	blood:
4	chr19:55613614..55616655-chr19:55626160..55629067,3	K562	blood:

Variant related genes	Relation type
ENSG00000125503	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10401227	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1151617	0.82[EUR][1000 genomes]
rs12982674	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12982699	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2109067	0.99[ASN][1000 genomes]
rs2532059	0.93[ASN][1000 genomes]
rs34374641	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56350931	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57104390	0.84[ASN][1000 genomes]
rs66707428	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7259963	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv1063666	chr19:55030439-55622780	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv912449	chr19:55595687-55630425	Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv912450	chr19:55595687-55633043	Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv912452	chr19:55595687-55644325	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1055961	chr19:55613727-55644076	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55593800-55620400	Weak transcription	HMEC	breast
2	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
3	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:55602000-55618400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
10	chr19:55606400-55621600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:55606600-55627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:55607600-55624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:55609000-55618400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:55609400-55618400	Strong transcription	Dnd41	blood
15	chr19:55611400-55618800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr19:55611600-55623000	Weak transcription	Right Atrium	heart
17	chr19:55612000-55621000	Weak transcription	HepG2	liver
18	chr19:55612000-55623000	Weak transcription	Fetal Heart	heart
19	chr19:55612400-55626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:55613400-55623400	Weak transcription	Small Intestine	intestine
21	chr19:55614200-55616600	Weak transcription	K562	blood
22	chr19:55614800-55620600	Weak transcription	HUVEC	blood vessel
23	chr19:55614800-55626800	Weak transcription	Primary B cells from cord blood	blood
24	chr19:55615000-55617600	Weak transcription	Brain Substantia Nigra	brain
25	chr19:55615000-55618800	Strong transcription	Fetal Intestine Small	intestine
26	chr19:55615000-55619800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr19:55615000-55620200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:55615000-55620800	Weak transcription	Brain Angular Gyrus	brain
29	chr19:55615000-55620800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:55615000-55621000	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:55615000-55624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:55615000-55624400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:55615000-55624400	Weak transcription	Fetal Brain Male	brain
34	chr19:55615000-55625600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:55615000-55627200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:55615000-55627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:55615200-55616600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:55615200-55616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:55615200-55616600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:55615200-55616600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:55615200-55616600	Weak transcription	Fetal Intestine Large	intestine
42	chr19:55615200-55616600	Weak transcription	Ovary	ovary
43	chr19:55615200-55616600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:55615200-55616600	Weak transcription	Spleen	Spleen
45	chr19:55615200-55616600	Weak transcription	A549	lung
46	chr19:55615200-55616600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:55615200-55616600	Weak transcription	Osteobl	bone
48	chr19:55615200-55616800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:55615200-55617000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:55615200-55617000	Weak transcription	Gastric	stomach

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