Variant report

Variant	rs7250591
Chromosome Location	chr19:43978130-43978131
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	chr19:43967220..43971779-chr19:43975734..43980942,11	MCF-7	breast:
2	chr19:43966005..43970813-chr19:43978022..43981097,6	K562	blood:
3	chr19:43978041..43981341-chr19:43983217..43985087,4	K562	blood:
4	chr19:43977172..43980889-chr19:44011519..44014130,3	MCF-7	breast:
5	chr19:43967515..43971066-chr19:43978004..43981821,7	MCF-7	breast:
6	chr19:43973600..43975639-chr19:43977848..43979529,3	MCF-7	breast:
7	chr19:43978041..43981148-chr19:43983217..43985461,3	K562	blood:
8	chr19:43977180..43982299-chr19:44003653..44008245,6	K562	blood:
9	chr19:43966005..43974691-chr19:43977125..43981104,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34861581	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35269756	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802181	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv2501	chr19:43942581-43978424	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv3417194	chr19:43975161-44000760	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7250591	ETHE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43968800-43979200	Weak transcription	Right Atrium	heart
2	chr19:43969000-43979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:43969000-43979000	Weak transcription	A549	lung
4	chr19:43969800-43979000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:43970000-43998200	Weak transcription	Gastric	stomach
6	chr19:43970400-43979200	Weak transcription	Lung	lung
7	chr19:43971600-43978600	Weak transcription	Fetal Intestine Small	intestine
8	chr19:43972000-43979000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:43972200-43979000	Weak transcription	NHLF	lung
10	chr19:43972200-43979200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:43972400-43978600	Weak transcription	Esophagus	oesophagus
12	chr19:43972400-43978800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:43972400-43979000	Weak transcription	K562	blood
14	chr19:43972400-43979000	Weak transcription	Osteobl	bone
15	chr19:43973000-43979200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:43973200-43979000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:43973600-43978400	Weak transcription	Hela-S3	cervix
18	chr19:43973600-43978600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr19:43973600-43978600	Weak transcription	Adipose Nuclei	Adipose
20	chr19:43973600-43978600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr19:43973600-43979000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:43973600-43979000	Weak transcription	HUVEC	blood vessel
23	chr19:43973800-43999800	Weak transcription	HepG2	liver
24	chr19:43974000-43979200	Weak transcription	Thymus	Thymus
25	chr19:43974200-43978800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:43974200-43979000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:43974600-43978800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:43974800-43978600	Weak transcription	Fetal Thymus	thymus
29	chr19:43974800-43979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:43974800-43979000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr19:43974800-43979000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:43974800-43979000	Weak transcription	NH-A	brain
33	chr19:43974800-43979000	Weak transcription	NHDF-Ad	bronchial
34	chr19:43975200-43979200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr19:43975400-43979000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:43975400-43979200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:43975600-43979000	Weak transcription	Fetal Lung	lung
38	chr19:43975800-43978600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:43975800-43978600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:43975800-43978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:43975800-43979000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:43975800-43979000	Weak transcription	HMEC	breast
43	chr19:43975800-43979000	Weak transcription	NHEK	skin
44	chr19:43975800-43979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:43976600-43979000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:43976800-43978800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:43976800-43979000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:43977000-43978600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:43977000-43979000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:43977400-43978400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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