Variant report

Variant	rs230261
Chromosome Location	chr19:36363470-36363471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr19:36362985-36363525	A549	lung:	n/a	chr19:36363236-36363249 chr19:36363235-36363248
2	SIX5	chr19:36363025-36363525	H1-hESC	embryonic stem cell:	n/a	chr19:36363235-36363249 chr19:36363239-36363248 chr19:36363237-36363246
3	HCFC1	chr19:36363023-36363550	Hela-S3	cervix:	n/a	n/a
4	FOXA2	chr19:36363114-36363584	A549	lung:	n/a	n/a
5	SIX5	chr19:36363046-36363602	A549	lung:	n/a	chr19:36363235-36363249 chr19:36363239-36363248 chr19:36363237-36363246

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36359233..36364587-chr19:36367940..36372688,7	K562	blood:

Variant related genes	Relation type
NPHS1	TF binding region
APLP1	TF binding region
ENSG00000105290	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10417173	1.00[ASN][1000 genomes]
rs10424506	1.00[ASN][1000 genomes]
rs11084834	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11878547	1.00[MEX][hapmap]
rs11880785	1.00[MEX][hapmap]
rs11880909	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11881358	1.00[EUR][1000 genomes]
rs11881364	1.00[EUR][1000 genomes]
rs11881451	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1268319	1.00[MEX][hapmap]
rs16970735	1.00[EUR][1000 genomes]
rs16970737	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16970742	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16970744	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs172985	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1802029	1.00[MEX][hapmap]
rs2227909	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs230260	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs230262	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs230263	1.00[EUR][1000 genomes]
rs230264	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs230265	1.00[CEU][hapmap];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[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34006827	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35423326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35729071	1.00[CHD][hapmap]
rs35854130	1.00[ASN][1000 genomes]
rs376240	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs392702	0.85[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs393116	1.00[EUR][1000 genomes]
rs401824	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs404299	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs412175	0.87[EUR][1000 genomes]
rs417786	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437168	1.00[CEU][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs443186	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs447783	0.86[EUR][1000 genomes]
rs55797913	1.00[EUR][1000 genomes]
rs55816190	1.00[EUR][1000 genomes]
rs56264349	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	1.00[EUR][1000 genomes]
rs62109661	1.00[ASN][1000 genomes]
rs7251744	1.00[EUR][1000 genomes]
rs7251879	0.85[TSI][hapmap]
rs7253086	0.81[EUR][1000 genomes]
rs7254113	1.00[MEX][hapmap]
rs7256433	0.81[EUR][1000 genomes]
rs7258909	1.00[CEU][hapmap];1.00[TSI][hapmap];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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73928333	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807660	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8106495	1.00[MEX][hapmap]
rs8106732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110231	1.00[MEX][hapmap]
rs8110926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111209	1.00[EUR][1000 genomes]
rs8111348	1.00[EUR][1000 genomes]
rs8113524	1.00[MEX][hapmap]
rs879407	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9749325	1.00[EUR][1000 genomes]
rs9749492	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][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:35 , 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	chr19:36361200-36365200	Weak transcription	Gastric	stomach
5	chr19:36361200-36370400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:36361200-36370400	Weak transcription	NH-A	brain
7	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
8	chr19:36361400-36364400	Weak transcription	Pancreas	Pancrea
9	chr19:36361400-36364600	Weak transcription	Brain Angular Gyrus	brain
10	chr19:36361400-36370200	Strong transcription	Brain Anterior Caudate	brain
11	chr19:36361400-36370200	Weak transcription	A549	lung
12	chr19:36361600-36364600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:36361600-36365400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:36361800-36370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:36361800-36370400	Strong transcription	Fetal Brain Female	brain
16	chr19:36362000-36370200	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr19:36362000-36370400	Strong transcription	Brain Germinal Matrix	brain
18	chr19:36362000-36373200	Weak transcription	Fetal Brain Male	brain
19	chr19:36362200-36363600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:36362200-36369800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:36362200-36370400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:36362400-36368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:36362400-36378200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:36362600-36369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:36362600-36378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:36362800-36363600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:36362800-36364400	Weak transcription	Brain Substantia Nigra	brain
28	chr19:36362800-36364600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:36362800-36364800	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:36362800-36366200	Strong transcription	Brain Cingulate Gyrus	brain
31	chr19:36362800-36369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:36363200-36368000	Weak transcription	Fetal Intestine Small	intestine
33	chr19:36363400-36364200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:36363400-36364200	Weak transcription	Fetal Stomach	stomach
35	chr19:36363400-36369000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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