Variant report

Variant	rs412175
Chromosome Location	chr19:36342103-36342104
allele	C/T
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	CTCF	chr19:36342080-36342230	HFF-Myc	foreskin:	n/a	n/a
2	ELF1	chr19:36341854-36342410	K562	blood:	n/a	chr19:36342093-36342102 chr19:36342091-36342104 chr19:36342296-36342307 chr19:36342092-36342103 chr19:36342297-36342306 chr19:36342092-36342103
3	RAD21	chr19:36342098-36342478	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr19:36341874-36342674	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr19:36341966-36342441	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:36342082-36342477	H1-hESC	embryonic stem cell:	n/a	chr19:36342321-36342330
7	ATF2	chr19:36342050-36342417	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr19:36342027-36342609	HCT-116	colon:	n/a	n/a
9	TEAD4	chr19:36342039-36342511	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr19:36342014-36342569	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr19:36342046-36342460	HepG2	liver:	n/a	n/a
12	ELF1	chr19:36341828-36342394	GM12878	blood:	n/a	chr19:36342093-36342102 chr19:36342091-36342104 chr19:36342296-36342307 chr19:36342092-36342103 chr19:36342297-36342306 chr19:36342092-36342103
13	TEAD4	chr19:36342063-36342526	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr19:36341997-36342607	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr19:36342100-36342250	GM12868	blood:	n/a	n/a
16	MAX	chr19:36342017-36342479	H1-hESC	embryonic stem cell:	n/a	chr19:36342077-36342087
17	CTCF	chr19:36342080-36342230	A549	lung:	n/a	n/a
18	JUND	chr19:36342066-36342448	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr19:36341490-36342641	A549	lung:	n/a	chr19:36342321-36342330
20	CREB1	chr19:36342019-36342537	HepG2	liver:	n/a	n/a
21	CREB1	chr19:36341951-36342548	H1-hESC	embryonic stem cell:	n/a	n/a
22	ELF1	chr19:36341955-36342458	K562	blood:	n/a	chr19:36342093-36342102 chr19:36342091-36342104 chr19:36342296-36342307 chr19:36342092-36342103 chr19:36342297-36342306 chr19:36342092-36342103

No.	Distal block	Cell Line	Cell type
1	chr19:36336450..36338602-chr19:36340290..36342312,2	K562	blood:
2	chr19:36341339..36343391-chr19:36346097..36348874,2	MCF-7	breast:
3	chr19:36336403..36338756-chr19:36340642..36343905,3	MCF-7	breast:

Variant related genes	Relation type
NPHS1	TF binding region
KIRREL2	TF binding region
ENSG00000161270	Chromatin interaction
ENSG00000126259	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11084834	0.87[EUR][1000 genomes]
rs11880909	0.87[EUR][1000 genomes]
rs11881358	0.87[EUR][1000 genomes]
rs11881364	0.87[EUR][1000 genomes]
rs11881451	0.87[EUR][1000 genomes]
rs16970735	0.87[EUR][1000 genomes]
rs16970737	0.87[EUR][1000 genomes]
rs16970742	0.87[EUR][1000 genomes]
rs16970744	0.87[EUR][1000 genomes]
rs172985	0.87[EUR][1000 genomes]
rs2227909	0.87[EUR][1000 genomes]
rs2285450	0.88[ASN][1000 genomes]
rs230260	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs230261	0.87[EUR][1000 genomes]
rs230262	0.87[EUR][1000 genomes]
rs230263	0.87[EUR][1000 genomes]
rs230264	0.87[EUR][1000 genomes]
rs230265	0.87[EUR][1000 genomes]
rs230266	0.87[EUR][1000 genomes]
rs230267	0.87[EUR][1000 genomes]
rs230269	0.87[EUR][1000 genomes]
rs2871778	0.87[EUR][1000 genomes]
rs34006827	0.87[EUR][1000 genomes]
rs35423326	0.87[EUR][1000 genomes]
rs376240	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs392702	0.91[EUR][1000 genomes]
rs393116	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs401824	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs404299	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs417786	0.91[EUR][1000 genomes]
rs437168	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs443186	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs447783	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55797913	0.87[EUR][1000 genomes]
rs55816190	0.87[EUR][1000 genomes]
rs56117924	0.84[ASN][1000 genomes]
rs56264349	0.86[AMR][1000 genomes]
rs56971278	0.82[EUR][1000 genomes]
rs57053076	0.87[EUR][1000 genomes]
rs57668132	0.87[EUR][1000 genomes]
rs58098901	0.87[EUR][1000 genomes]
rs58109577	0.87[EUR][1000 genomes]
rs58291714	0.82[EUR][1000 genomes]
rs59123406	0.87[EUR][1000 genomes]
rs59582363	0.85[ASN][1000 genomes]
rs59658571	0.87[EUR][1000 genomes]
rs60268250	0.82[EUR][1000 genomes]
rs60576074	0.82[EUR][1000 genomes]
rs60869994	0.82[EUR][1000 genomes]
rs61623584	0.87[EUR][1000 genomes]
rs619833	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7248157	0.84[ASN][1000 genomes]
rs7251744	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7258909	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73594463	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73928332	0.87[EUR][1000 genomes]
rs73928333	0.87[EUR][1000 genomes]
rs807660	0.87[EUR][1000 genomes]
rs8106732	0.87[EUR][1000 genomes]
rs8110926	0.87[EUR][1000 genomes]
rs8111209	0.87[EUR][1000 genomes]
rs8111348	0.87[EUR][1000 genomes]
rs879407	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9749325	0.87[EUR][1000 genomes]
rs9749492	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36337000-36347000	Weak transcription	Right Atrium	heart
2	chr19:36341400-36342200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:36341600-36342600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:36341800-36342200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36341800-36342200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr19:36341800-36342800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:36341800-36342800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr19:36342000-36342400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr19:36342000-36342400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr19:36342000-36342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:36342000-36342400	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr19:36342000-36342600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr19:36342000-36342800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:36342000-36342800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:36342000-36342800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:36342000-36343800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr19:36342000-36344200	Active TSS	Pancreas	Pancrea

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