Variant report

Variant	rs8106732
Chromosome Location	chr19:36344302-36344303
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr19:36343949-36344381	K562	blood:	n/a	chr19:36344117-36344131 chr19:36344119-36344129 chr19:36344216-36344229 chr19:36344200-36344211
2	EGR1	chr19:36344009-36344327	K562	blood:	n/a	chr19:36344117-36344131 chr19:36344119-36344129 chr19:36344216-36344229 chr19:36344200-36344211

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36344293-36344343	PFSK-1	brain:	n/a
2	chr19:36344293-36344343	RPTEC	kidney:	n/a
3	chr19:36344293-36344343	IMR90	lung:	fetal
4	chr19:36344293-36344343	GM12891	blood:	n/a
5	chr19:36344293-36344343	HRE	kidney:	n/a
6	chr19:36344293-36344343	SKMC	muscle:	n/a
7	chr19:36344293-36344343	NB4	blood:	n/a
8	chr19:36344293-36344343	NHDF-neo	bronchial:	n/a
9	chr19:36344293-36344343	HRPEpiC	eye:	n/a
10	chr19:36344293-36344343	PANC-1	pancreas:	n/a
11	chr19:36344293-36344343	GM06990	blood:	n/a
12	chr19:36344293-36344343	CMK	blood:	n/a
13	chr19:36344293-36344343	ProgFib	skin:	n/a
14	chr19:36344293-36344343	HCT-116	colon:	n/a
15	chr19:36344293-36344343	BJ	skin:	n/a
16	chr19:36344293-36344343	MCF-7	breast:	n/a
17	chr19:36344293-36344343	K562	blood:	n/a
18	chr19:36344293-36344343	PrEC	prostate:	n/a
19	chr19:36344293-36344343	HCF	heart:	n/a
20	chr19:36344293-36344343	SK-N-SH_RA	brain:	n/a
21	chr19:36344293-36344343	NH-A	brain:	n/a
22	chr19:36344293-36344343	AG10803	skin:	n/a
23	chr19:36344293-36344343	HMEC	breast:	n/a
24	chr19:36344293-36344343	Hepatocyte	liver:	n/a
25	chr19:36344293-36344343	Caco-2	colon:	n/a
26	chr19:36344293-36344343	MCF10A-Er-Src	breast:	n/a
27	chr19:36344293-36344343	HRCEpiC	kidney:	n/a
28	chr19:36344293-36344343	HL-60	blood:	n/a
29	chr19:36344293-36344343	GM12892	blood:	n/a
30	chr19:36344293-36344343	U87	brain:	n/a
31	chr19:36344293-36344343	NT2-D1	testis:	n/a
32	chr19:36344293-36344343	SK-N-SH	brain:	n/a
33	chr19:36344293-36344343	BE2_C	brain:	n/a
34	chr19:36344293-36344343	Hela-S3	cervix:	n/a
35	chr19:36344293-36344343	GM12878	blood:	n/a
36	chr19:36344293-36344343	HCPEpiC	choroid plexus:	n/a
37	chr19:36344293-36344343	HEEpiC	esophagus:	n/a
38	chr19:36344293-36344343	HUVEC	blood vessel:	n/a
39	chr19:36344293-36344343	HIPEpiC	eye:	n/a
40	chr19:36344293-36344343	LNCaP	prostate:	n/a
41	chr19:36344293-36344343	HepG2	liver:	n/a
42	chr19:36344293-36344343	AG09309	skin:	n/a
43	chr19:36344293-36344343	HAEpiC	amniotic membrane:	n/a
44	chr19:36344293-36344343	AoSMC	blood vessel:	n/a
45	chr19:36344293-36344343	T-47D	breast:	n/a
46	chr19:36344293-36344343	HCM	heart:	n/a
47	chr19:36344293-36344343	GM19239	blood:	n/a
48	chr19:36344293-36344343	HEK293	kidney:	embryo
49	chr19:36344293-36344343	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:36344293-36344343	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
NPHS1	TF binding region
KIRREL2	TF binding region
KIRREL2	CpG island
NPHS1	CpG island

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10417173	1.00[ASN][1000 genomes]
rs10424506	1.00[ASN][1000 genomes]
rs11084834	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880909	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881358	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881364	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881451	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970735	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970737	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970742	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970744	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172985	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227909	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230260	0.95[EUR][1000 genomes]
rs230261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230262	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230264	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230265	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230267	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs230268	0.91[EUR][1000 genomes]
rs230269	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2871778	0.89[AMR][1000 genomes];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]
rs35854130	1.00[ASN][1000 genomes]
rs376240	1.00[EUR][1000 genomes]
rs392702	0.86[EUR][1000 genomes];1.00[ASN][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];1.00[ASN][1000 genomes]
rs437168	0.82[EUR][1000 genomes]
rs443186	1.00[EUR][1000 genomes]
rs447783	0.86[EUR][1000 genomes]
rs55797913	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55816190	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264349	0.91[EUR][1000 genomes]
rs57053076	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668132	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58098901	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58109577	0.89[AMR][1000 genomes];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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60268250	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60576074	0.95[EUR][1000 genomes]
rs60869994	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60935148	0.81[EUR][1000 genomes]
rs61623584	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs619833	1.00[EUR][1000 genomes]
rs62109661	1.00[ASN][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	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73928332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73928333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs807660	1.00[EUR][1000 genomes]
rs8110926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111209	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111348	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs879407	1.00[EUR][1000 genomes]
rs9749325	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749492	0.84[AMR][1000 genomes];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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36337000-36347000	Weak transcription	Right Atrium	heart
2	chr19:36342200-36345600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36343800-36346800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:36344200-36344400	Enhancers	Pancreas	Pancrea

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