Variant report

Variant	rs4802181
Chromosome Location	chr19:43971251-43971252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:
2	chr19:43970034..43971931-chr19:43987408..43990359,2	MCF-7	breast:
3	chr19:43968715..43971429-chr19:44172597..44174445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011422	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs34861581	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269756	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803633	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250591	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4802181	ETHE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43968800-43971400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr19:43968800-43979200	Weak transcription	Right Atrium	heart
3	chr19:43969000-43971400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:43969000-43971400	Weak transcription	K562	blood
5	chr19:43969000-43971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:43969000-43971600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:43969000-43971600	Weak transcription	Osteobl	bone
8	chr19:43969000-43971800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:43969000-43972000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:43969000-43972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:43969000-43979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:43969000-43979000	Weak transcription	A549	lung
13	chr19:43969200-43971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:43969600-43971400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:43969600-43973000	Weak transcription	Dnd41	blood
16	chr19:43969800-43971800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:43969800-43972600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr19:43969800-43972800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:43969800-43979000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:43970000-43971600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:43970000-43998200	Weak transcription	Gastric	stomach
22	chr19:43970200-43971600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:43970200-43971800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:43970200-43972200	Weak transcription	Colonic Mucosa	Colon
25	chr19:43970200-43972400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:43970200-43974400	Weak transcription	NHDF-Ad	bronchial
27	chr19:43970200-43977800	Weak transcription	Spleen	Spleen
28	chr19:43970400-43971400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr19:43970400-43971600	Enhancers	Hela-S3	cervix
30	chr19:43970400-43971600	Weak transcription	NHLF	lung
31	chr19:43970400-43972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:43970400-43973400	Weak transcription	Placenta	Placenta
33	chr19:43970400-43974400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:43970400-43976600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:43970400-43979200	Weak transcription	Lung	lung
36	chr19:43970600-43971600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:43970600-43971600	Weak transcription	Esophagus	oesophagus
38	chr19:43971000-43971400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:43971000-43972800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:43971000-43973600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:43971200-43971400	Enhancers	HepG2	liver
42	chr19:43971200-43971600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr19:43971200-43973600	Enhancers	HMEC	breast
44	chr19:43971200-43973800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:43971200-43974600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:43971200-43975800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:43971200-43975800	Enhancers	NHEK	skin
48	chr19:43971200-43977600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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