Variant report

Variant	rs4795367
Chromosome Location	chr17:37608843-37608844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37608144-37608912	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr17:37606823-37609040	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA2	chr17:37608578-37608843	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:37608109-37608900	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:37606768-37608899	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37557413..37559525-chr17:37605171..37609188,5	K562	blood:
2	chr17:37604386..37611889-chr17:37616048..37620931,25	K562	blood:
3	chr17:37605291..37610010-chr17:37614517..37620203,14	MCF-7	breast:
4	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
5	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:

No data

Variant related genes	Relation type
MED1	TF binding region
ENSG00000266469	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000108306	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10445306	0.83[ASN][1000 genomes]
rs10445307	0.80[ASN][1000 genomes]
rs10491128	0.80[ASN][1000 genomes]
rs1054488	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078899	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11078900	0.86[ASN][1000 genomes]
rs11078901	0.82[ASN][1000 genomes]
rs11078902	0.85[ASN][1000 genomes]
rs11078903	0.85[ASN][1000 genomes]
rs11078904	0.83[ASN][1000 genomes]
rs11657058	0.84[ASN][1000 genomes]
rs11657153	0.84[ASN][1000 genomes]
rs11657899	0.84[ASN][1000 genomes]
rs11867312	0.86[ASN][1000 genomes]
rs11868029	0.84[ASN][1000 genomes]
rs11868030	0.84[ASN][1000 genomes]
rs11870631	0.85[ASN][1000 genomes]
rs11871813	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12150047	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12150493	0.83[ASN][1000 genomes]
rs12449852	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12452509	0.83[ASN][1000 genomes]
rs12452682	0.85[ASN][1000 genomes]
rs12452880	0.85[ASN][1000 genomes]
rs12600751	0.80[ASN][1000 genomes]
rs12936646	0.85[ASN][1000 genomes]
rs12937013	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12937703	0.81[ASN][1000 genomes]
rs12938099	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12938268	0.83[ASN][1000 genomes]
rs12941418	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12942352	0.83[ASN][1000 genomes]
rs12942360	0.82[ASN][1000 genomes]
rs12942391	0.83[ASN][1000 genomes]
rs12943928	0.85[ASN][1000 genomes]
rs12947281	0.82[ASN][1000 genomes]
rs12947506	0.83[ASN][1000 genomes]
rs12947620	0.86[ASN][1000 genomes]
rs12948906	0.85[ASN][1000 genomes]
rs12950666	0.86[ASN][1000 genomes]
rs1874226	0.83[ASN][1000 genomes]
rs1971663	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2338797	0.80[ASN][1000 genomes]
rs2338799	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28482878	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28799952	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34363096	0.86[ASN][1000 genomes]
rs34432983	0.80[ASN][1000 genomes]
rs35112839	0.86[ASN][1000 genomes]
rs35285898	0.80[ASN][1000 genomes]
rs35497503	0.86[ASN][1000 genomes]
rs36064019	0.81[ASN][1000 genomes]
rs4286140	0.86[ASN][1000 genomes]
rs4287601	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4332770	0.83[ASN][1000 genomes]
rs4390625	0.86[ASN][1000 genomes]
rs439537	0.83[ASN][1000 genomes]
rs4410117	0.83[ASN][1000 genomes]
rs4462633	0.85[ASN][1000 genomes]
rs4488484	0.83[ASN][1000 genomes]
rs4591174	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4794808	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4794810	0.86[ASN][1000 genomes]
rs4795357	0.81[ASN][1000 genomes]
rs4795358	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4795359	0.83[ASN][1000 genomes]
rs4795364	0.82[ASN][1000 genomes]
rs4795369	0.84[ASN][1000 genomes]
rs4795371	0.83[ASN][1000 genomes]
rs4795375	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795379	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4795385	0.83[ASN][1000 genomes]
rs55722796	0.84[ASN][1000 genomes]
rs57399933	0.82[ASN][1000 genomes]
rs57448077	0.85[ASN][1000 genomes]
rs584377	0.81[ASN][1000 genomes]
rs61161659	0.85[ASN][1000 genomes]
rs62075056	0.80[ASN][1000 genomes]
rs6503500	0.83[ASN][1000 genomes]
rs6503504	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6503513	0.81[ASN][1000 genomes]
rs6503515	0.86[ASN][1000 genomes]
rs6503517	0.83[ASN][1000 genomes]
rs6503521	0.83[ASN][1000 genomes]
rs665413	0.81[ASN][1000 genomes]
rs667193	0.81[ASN][1000 genomes]
rs7208252	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7208487	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7212621	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7215983	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218944	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7219014	0.84[ASN][1000 genomes]
rs7221117	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7405667	0.83[ASN][1000 genomes]
rs7501488	0.83[ASN][1000 genomes]
rs7503081	0.83[ASN][1000 genomes]
rs7503377	0.83[ASN][1000 genomes]
rs801417	0.80[ASN][1000 genomes]
rs8067511	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8069074	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8071300	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8072351	0.83[ASN][1000 genomes]
rs8073511	0.90[ASN][1000 genomes]
rs8074276	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8074855	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075737	0.83[ASN][1000 genomes]
rs8076546	0.80[ASN][1000 genomes]
rs8078599	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8081528	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081780	0.84[ASN][1000 genomes]
rs8182252	0.83[ASN][1000 genomes]
rs903507	0.83[ASN][1000 genomes]
rs9646419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9747983	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9891892	0.86[ASN][1000 genomes]
rs9892675	0.80[ASN][1000 genomes]
rs9899069	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9901219	0.81[ASN][1000 genomes]
rs9904919	0.81[ASN][1000 genomes]
rs9905432	0.80[ASN][1000 genomes]
rs9906612	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9908131	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9909304	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9912212	0.83[ASN][1000 genomes]
rs9912310	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944459	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	nsv827984	chr17:37608583-37609302	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4795367	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs4795367	PGAP3	cis	Thyroid	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37608200-37611000	Enhancers	Fetal Intestine Large	intestine
2	chr17:37608400-37609000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr17:37608400-37612000	Enhancers	Liver	Liver
4	chr17:37608400-37616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:37608400-37617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:37608600-37609000	Weak transcription	Fetal Intestine Small	intestine
7	chr17:37608600-37609000	Enhancers	Dnd41	blood
8	chr17:37608600-37609000	Enhancers	HepG2	liver
9	chr17:37608600-37609800	Weak transcription	A549	lung
10	chr17:37608600-37614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:37608600-37616800	Weak transcription	Hela-S3	cervix
12	chr17:37608600-37617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:37608800-37610200	Weak transcription	K562	blood
14	chr17:37608800-37616800	Weak transcription	Right Ventricle	heart

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