Variant report

Variant	rs11667917
Chromosome Location	chr19:18211213-18211214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18207114..18212211-chr19:18216815..18222515,8	K562	blood:
2	chr19:18208609..18210240-chr19:18210290..18213272,2	MCF-7	breast:
3	chr19:18115966..18118011-chr19:18209342..18211986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099308	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000096996	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11086089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11665905	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11667112	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670228	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11672366	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11673702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs273496	0.81[EUR][1000 genomes]
rs273503	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs273504	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs273505	0.92[EUR][1000 genomes]
rs273506	0.82[EUR][1000 genomes]
rs273508	0.82[EUR][1000 genomes]
rs273512	0.81[EUR][1000 genomes]
rs4808746	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56971820	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58049250	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62121155	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62121158	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62123561	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7249862	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18209200-18214400	Weak transcription	Aorta	Aorta
2	chr19:18209400-18214600	Weak transcription	A549	lung
3	chr19:18209400-18215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:18209600-18212000	Enhancers	Placenta	Placenta
5	chr19:18209600-18215000	Weak transcription	Hela-S3	cervix
6	chr19:18209800-18211600	Weak transcription	Liver	Liver
7	chr19:18210000-18211800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:18210000-18211800	Enhancers	K562	blood
9	chr19:18210000-18215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:18210200-18215000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:18210200-18215000	Weak transcription	Ovary	ovary
12	chr19:18210200-18215000	Weak transcription	Right Atrium	heart
13	chr19:18210200-18215000	Weak transcription	HMEC	breast
14	chr19:18210400-18211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:18210400-18212000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:18210400-18212200	Enhancers	Brain Angular Gyrus	brain
17	chr19:18210400-18215000	Weak transcription	Pancreas	Pancrea
18	chr19:18210600-18211400	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:18210600-18211600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18210600-18211600	Weak transcription	Brain Anterior Caudate	brain
21	chr19:18210600-18211600	Weak transcription	Gastric	stomach
22	chr19:18210600-18212000	Enhancers	Primary B cells from cord blood	blood
23	chr19:18210600-18214600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:18210600-18215200	Weak transcription	Lung	lung
25	chr19:18210800-18211600	Enhancers	Brain Cingulate Gyrus	brain
26	chr19:18210800-18211600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:18210800-18211600	Enhancers	HepG2	liver
28	chr19:18210800-18214000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:18210800-18214400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:18210800-18214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:18210800-18214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:18210800-18214800	Weak transcription	Colonic Mucosa	Colon
33	chr19:18210800-18215000	Weak transcription	Primary T cells from cord blood	blood
34	chr19:18210800-18215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:18210800-18215000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:18210800-18215000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:18210800-18215000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:18210800-18215000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:18210800-18215000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:18210800-18215000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:18210800-18215000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:18210800-18215200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:18211000-18211400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:18211000-18211400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr19:18211000-18211400	Weak transcription	Brain Substantia Nigra	brain
46	chr19:18211000-18211400	Weak transcription	Spleen	Spleen
47	chr19:18211000-18211400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr19:18211000-18211800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:18211000-18212000	Enhancers	Fetal Thymus	thymus
50	chr19:18211000-18214600	Weak transcription	Primary T cells fromperipheralblood	blood

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