Variant report

Variant	rs393116
Chromosome Location	chr19:36348198-36348199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36339201..36341065-chr19:36345567..36348442,2	K562	blood:
2	chr19:36341339..36343391-chr19:36346097..36348874,2	MCF-7	breast:
3	chr19:36339201..36341036-chr19:36345575..36348442,2	K562	blood:
4	chr19:36301268..36304054-chr19:36346309..36349120,2	K562	blood:

Variant related genes	Relation type
ENSG00000161270	Chromatin interaction
ENSG00000250799	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11084834	1.00[EUR][1000 genomes]
rs11880909	1.00[EUR][1000 genomes]
rs11881358	1.00[EUR][1000 genomes]
rs11881364	1.00[EUR][1000 genomes]
rs11881451	1.00[EUR][1000 genomes]
rs16970735	1.00[EUR][1000 genomes]
rs16970737	1.00[EUR][1000 genomes]
rs16970742	1.00[EUR][1000 genomes]
rs16970744	1.00[EUR][1000 genomes]
rs172985	1.00[EUR][1000 genomes]
rs2073901	0.81[ASN][1000 genomes]
rs2227909	1.00[EUR][1000 genomes]
rs230260	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs230261	1.00[EUR][1000 genomes]
rs230262	1.00[EUR][1000 genomes]
rs230263	1.00[EUR][1000 genomes]
rs230264	1.00[EUR][1000 genomes]
rs230265	1.00[EUR][1000 genomes]
rs230266	1.00[EUR][1000 genomes]
rs230267	1.00[EUR][1000 genomes]
rs230268	0.91[EUR][1000 genomes]
rs230269	1.00[EUR][1000 genomes]
rs2871778	1.00[EUR][1000 genomes]
rs34006827	1.00[EUR][1000 genomes]
rs35423326	1.00[EUR][1000 genomes]
rs370644	0.90[ASN][1000 genomes]
rs376240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392702	0.86[EUR][1000 genomes]
rs401824	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs404299	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412175	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs417786	0.86[EUR][1000 genomes]
rs435259	0.90[ASN][1000 genomes]
rs435605	0.90[ASN][1000 genomes]
rs437168	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs442219	0.90[ASN][1000 genomes]
rs443186	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs446014	0.90[ASN][1000 genomes]
rs447783	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs451846	0.90[ASN][1000 genomes]
rs55797913	1.00[EUR][1000 genomes]
rs55816190	1.00[EUR][1000 genomes]
rs56264349	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57053076	1.00[EUR][1000 genomes]
rs57668132	1.00[EUR][1000 genomes]
rs58098901	1.00[EUR][1000 genomes]
rs58109577	1.00[EUR][1000 genomes]
rs58291714	0.95[EUR][1000 genomes]
rs58504183	0.81[EUR][1000 genomes]
rs58551711	0.81[EUR][1000 genomes]
rs59123406	1.00[EUR][1000 genomes]
rs59658571	1.00[EUR][1000 genomes]
rs60268250	0.95[EUR][1000 genomes]
rs60576074	0.95[EUR][1000 genomes]
rs60869994	0.95[EUR][1000 genomes]
rs60935148	0.81[EUR][1000 genomes]
rs61623584	1.00[EUR][1000 genomes]
rs619833	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670091	0.90[ASN][1000 genomes]
rs7251744	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7253086	0.81[EUR][1000 genomes]
rs7256433	0.81[EUR][1000 genomes]
rs7258909	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590883	0.85[EUR][1000 genomes]
rs73594463	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73599600	0.81[EUR][1000 genomes]
rs73928331	0.90[EUR][1000 genomes]
rs73928332	1.00[EUR][1000 genomes]
rs73928333	1.00[EUR][1000 genomes]
rs807659	0.90[ASN][1000 genomes]
rs807660	1.00[EUR][1000 genomes]
rs8106732	1.00[EUR][1000 genomes]
rs8110926	1.00[EUR][1000 genomes]
rs8111209	1.00[EUR][1000 genomes]
rs8111348	1.00[EUR][1000 genomes]
rs879407	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749325	1.00[EUR][1000 genomes]
rs9749492	0.95[EUR][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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911639	chr19:36342909-36365985	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36346200-36348600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:36346400-36348200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr19:36346800-36348200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:36346800-36348400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:36346800-36348400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:36346800-36348600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:36346800-36348600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr19:36347000-36348200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:36347000-36348200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:36347000-36348200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:36347000-36348200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr19:36347000-36348400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:36347000-36348400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:36347000-36348400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:36347000-36348400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:36347000-36348600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:36347000-36348600	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr19:36347200-36348200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr19:36347200-36348200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr19:36347200-36348200	Active TSS	Fetal Kidney	kidney
21	chr19:36347200-36348200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr19:36347200-36348200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr19:36347200-36348400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr19:36347200-36348400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr19:36347200-36348400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:36347200-36348400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:36347200-36348400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr19:36347200-36348400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr19:36347200-36348600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:36347200-36348600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr19:36347400-36348200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr19:36347400-36348200	Bivalent Enhancer	Liver	Liver
41	chr19:36347400-36348200	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	HMEC	breast
43	chr19:36347400-36348200	Bivalent/Poised TSS	HSMM	muscle
44	chr19:36347400-36348200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr19:36347400-36348400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:36347400-36348400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
47	chr19:36347400-36348400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr19:36347400-36348400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:36347400-36348400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:36347400-36348400	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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