Variant report

Variant	rs11668795
Chromosome Location	chr19:21231287-21231288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21230722..21233642-chr19:21264436..21267129,2	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10405218	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10405406	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10406661	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10409877	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10411038	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10412267	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10413983	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10417165	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10418706	0.84[EUR][1000 genomes]
rs10422193	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10423541	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10424283	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10425969	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11085424	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11671894	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12104220	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12104387	0.88[EUR][1000 genomes]
rs12609005	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12609510	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12609831	0.81[ASN][1000 genomes]
rs12974016	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12975789	0.81[ASN][1000 genomes]
rs2081050	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2081057	0.84[EUR][1000 genomes]
rs2082003	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2098681	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2099648	0.88[EUR][1000 genomes]
rs2115493	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2358795	0.81[ASN][1000 genomes]
rs2884548	0.88[EUR][1000 genomes]
rs35137761	0.92[EUR][1000 genomes]
rs4488591	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808275	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4809122	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511181	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6511183	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511184	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511185	0.83[AMR][1000 genomes]
rs6511190	0.82[EUR][1000 genomes]
rs6511192	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511194	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511196	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7246723	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7247413	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7247553	0.88[EUR][1000 genomes]
rs7248410	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7250169	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7252277	0.81[ASN][1000 genomes]
rs7253530	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7253950	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7254047	0.92[EUR][1000 genomes]
rs7254053	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7254722	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7254982	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7258477	0.88[EUR][1000 genomes]
rs7260268	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs741674	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs741676	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8100599	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8101222	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8102966	0.88[EUR][1000 genomes]
rs8103696	0.81[ASN][1000 genomes]
rs8103825	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8106923	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8111827	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8112054	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8112500	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8182465	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9304982	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9941463	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21231600	Weak transcription	Colonic Mucosa	Colon
2	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
3	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
6	chr19:21209200-21235600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:21210200-21232200	Weak transcription	K562	blood
8	chr19:21211400-21235400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
10	chr19:21220400-21235200	Weak transcription	NHDF-Ad	bronchial
11	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21223400-21231400	Weak transcription	Placenta	Placenta
15	chr19:21223400-21235600	Weak transcription	NH-A	brain
16	chr19:21224400-21232800	ZNF genes & repeats	Dnd41	blood
17	chr19:21225200-21234200	Weak transcription	A549	lung
18	chr19:21225600-21237200	Weak transcription	HUVEC	blood vessel
19	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:21227800-21247200	Weak transcription	HepG2	liver
21	chr19:21228000-21233600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:21228800-21235400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:21229600-21235600	Weak transcription	Brain Substantia Nigra	brain
24	chr19:21229800-21235400	Weak transcription	Brain Anterior Caudate	brain
25	chr19:21230200-21232600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:21230600-21232400	Weak transcription	Fetal Brain Male	brain
27	chr19:21230600-21235600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:21230800-21231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:21230800-21231600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:21230800-21231600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:21230800-21231600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr19:21230800-21231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:21230800-21231600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:21230800-21231600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:21230800-21231600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:21230800-21231600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:21230800-21231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:21230800-21231600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:21230800-21231600	Weak transcription	Fetal Intestine Large	intestine
41	chr19:21230800-21231600	Weak transcription	Fetal Intestine Small	intestine
42	chr19:21230800-21231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:21230800-21231800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:21230800-21231800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:21230800-21232000	Weak transcription	Gastric	stomach
46	chr19:21230800-21232200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:21230800-21232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:21230800-21232200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:21230800-21232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:21230800-21232200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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