Variant report

Variant	rs230263
Chromosome Location	chr19:36365368-36365369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36363822..36367543-chr19:36368056..36371316,4	K562	blood:
2	chr19:36365053..36367604-chr19:36368904..36371843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105290	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11084834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11880785	0.85[ASN][1000 genomes]
rs11880909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11881364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881451	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970737	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16970742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549166	0.83[ASN][1000 genomes]
rs2227909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228998	0.91[ASN][1000 genomes]
rs230260	0.95[EUR][1000 genomes]
rs230261	1.00[EUR][1000 genomes]
rs230262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230268	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34006827	1.00[EUR][1000 genomes]
rs35423326	1.00[EUR][1000 genomes]
rs376240	1.00[EUR][1000 genomes]
rs392702	0.86[EUR][1000 genomes]
rs393116	1.00[EUR][1000 genomes]
rs401824	0.95[EUR][1000 genomes]
rs404299	1.00[EUR][1000 genomes]
rs412175	0.87[EUR][1000 genomes]
rs417786	0.86[EUR][1000 genomes]
rs437168	0.82[EUR][1000 genomes]
rs443186	1.00[EUR][1000 genomes]
rs447783	0.86[EUR][1000 genomes]
rs4806227	0.87[ASN][1000 genomes]
rs55797913	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816190	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264349	0.91[EUR][1000 genomes]
rs57002105	0.81[ASN][1000 genomes]
rs57053076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57113091	0.87[ASN][1000 genomes]
rs57668132	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57911093	0.91[ASN][1000 genomes]
rs58098901	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58109577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58291714	0.95[EUR][1000 genomes]
rs58504183	0.81[EUR][1000 genomes]
rs58551711	0.81[EUR][1000 genomes]
rs59123406	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59658571	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268250	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60576074	0.95[EUR][1000 genomes]
rs60869994	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60935148	0.81[EUR][1000 genomes]
rs61623584	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619833	1.00[EUR][1000 genomes]
rs7251744	1.00[EUR][1000 genomes]
rs7253086	0.81[EUR][1000 genomes]
rs7256433	0.81[EUR][1000 genomes]
rs7258909	1.00[EUR][1000 genomes]
rs73590883	0.85[EUR][1000 genomes]
rs73594463	0.81[EUR][1000 genomes]
rs73599600	0.81[EUR][1000 genomes]
rs73928331	0.90[EUR][1000 genomes]
rs73928332	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73928333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807660	1.00[EUR][1000 genomes]
rs8106732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110926	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111209	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111348	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879407	1.00[EUR][1000 genomes]
rs9749325	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749492	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv911640	chr19:36353880-36365985	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36359800-36370200	Weak transcription	HSMMtube	muscle
2	chr19:36360200-36379000	Weak transcription	Aorta	Aorta
3	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:36361200-36370400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:36361200-36370400	Weak transcription	NH-A	brain
6	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
7	chr19:36361400-36370200	Strong transcription	Brain Anterior Caudate	brain
8	chr19:36361400-36370200	Weak transcription	A549	lung
9	chr19:36361600-36365400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:36361800-36370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:36361800-36370400	Strong transcription	Fetal Brain Female	brain
12	chr19:36362000-36370200	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr19:36362000-36370400	Strong transcription	Brain Germinal Matrix	brain
14	chr19:36362000-36373200	Weak transcription	Fetal Brain Male	brain
15	chr19:36362200-36369800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:36362200-36370400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:36362400-36368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr19:36362400-36378200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:36362600-36369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:36362600-36378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr19:36362800-36366200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr19:36362800-36369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:36363200-36368000	Weak transcription	Fetal Intestine Small	intestine
24	chr19:36363400-36369000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:36364200-36365800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:36364200-36366200	Strong transcription	Fetal Stomach	stomach
27	chr19:36364400-36365800	Strong transcription	Pancreas	Pancrea
28	chr19:36364400-36368800	Strong transcription	Brain Substantia Nigra	brain
29	chr19:36364600-36365400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:36364600-36366000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:36364600-36366000	Strong transcription	Brain Angular Gyrus	brain
32	chr19:36364600-36366200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:36364800-36365600	Genic enhancers	Brain Hippocampus Middle	brain
34	chr19:36364800-36370800	Weak transcription	Esophagus	oesophagus
35	chr19:36365000-36365600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:36365000-36367800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:36365200-36366000	Strong transcription	Gastric	stomach

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