Variant report

Variant	rs4664
Chromosome Location	chr19:53115785-53115786
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52406735..52408758-chr19:53114766..53117318,2	K562	blood:
2	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
3	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
4	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:

Variant related genes	Relation type
ENSG00000198093	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403520	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11667299	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11669701	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669959	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672421	0.83[CEU][hapmap]
rs12610403	0.87[EUR][1000 genomes]
rs34309553	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55696755	0.87[EUR][1000 genomes]
rs55921017	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56035352	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381705	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118478	1.00[ASN][1000 genomes]
rs62118483	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118484	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118487	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62118490	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118518	1.00[ASN][1000 genomes]
rs62118519	1.00[ASN][1000 genomes]
rs62118520	1.00[ASN][1000 genomes]
rs634201	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061468	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061470	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061471	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9807850	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak 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	31 gene(s)	inside rSNPs	diseases
6	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' 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
7	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong 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	32 gene(s)	inside rSNPs	diseases
9	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
10	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv912314	chr19:53105547-53144082	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv912315	chr19:53105547-53149967	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv912316	chr19:53105547-53158023	Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	nsv519070	chr19:53114267-53115843	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv527815	chr19:53114267-53117531	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
21	nsv817857	chr19:53114267-53120559	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53105000-53115800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:53105200-53115800	Weak transcription	HUVEC	blood vessel
3	chr19:53105200-53116200	Weak transcription	Left Ventricle	heart
4	chr19:53105200-53116600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
6	chr19:53105400-53116000	Weak transcription	Fetal Brain Female	brain
7	chr19:53105400-53116400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:53105400-53116400	Weak transcription	Ovary	ovary
9	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
10	chr19:53105600-53116200	Weak transcription	Brain Anterior Caudate	brain
11	chr19:53105800-53116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:53105800-53116200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:53105800-53116200	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:53105800-53116400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:53105800-53117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:53105800-53129000	Weak transcription	Hela-S3	cervix
17	chr19:53106200-53116400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:53106400-53116400	Weak transcription	Fetal Kidney	kidney
19	chr19:53106800-53116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:53107000-53136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:53109000-53116200	Weak transcription	Fetal Muscle Leg	muscle
22	chr19:53110600-53119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:53112000-53117400	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr19:53112000-53131600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:53112400-53123400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:53112800-53123200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:53113000-53116000	Weak transcription	Brain Angular Gyrus	brain
28	chr19:53113000-53120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:53113200-53119400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr19:53113200-53121600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:53113400-53119800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr19:53113400-53122000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr19:53113600-53115800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:53113600-53116200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:53113800-53123800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:53114200-53122200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:53114800-53117400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:53114800-53121600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:53115000-53115800	ZNF genes & repeats	Thymus	Thymus
40	chr19:53115000-53117800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:53115000-53118000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr19:53115000-53121000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:53115000-53122000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:53115200-53120600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr19:53115200-53120800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr19:53115200-53121200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:53115200-53121600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr19:53115200-53122000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr19:53115400-53115800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:53115400-53117800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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