Variant report

Variant	rs955371
Chromosome Location	chr1:160835583-160835584
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	FOSL2	chr1:160835494-160835867	A549	lung:	n/a	n/a
2	ZBTB7A	chr1:160835521-160835709	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160830058..160833659-chr1:160834744..160837496,3	K562	blood:

Variant related genes	Relation type
CD244	TF binding region
ENSG00000122223	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10908807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265498	0.85[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11265499	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11265500	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11265501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11265504	0.94[ASN][1000 genomes]
rs12035295	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12035537	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12036607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12036670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037740	0.93[EUR][1000 genomes]
rs12037885	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12038419	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038600	0.85[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs12039896	0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12039959	0.85[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12040060	0.92[EUR][1000 genomes]
rs12040152	0.85[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12040750	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12041508	0.95[ASN][1000 genomes]
rs12046019	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12046021	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12047127	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12048113	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs12566557	0.92[ASN][1000 genomes]
rs1412849	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1576964	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1855188	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1855189	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2151293	0.95[ASN][1000 genomes]
rs2184067	0.95[ASN][1000 genomes]
rs2184068	0.94[ASN][1000 genomes]
rs2184069	0.95[ASN][1000 genomes]
rs2274907	0.82[MKK][hapmap]
rs2274908	0.82[LWK][hapmap];0.82[MKK][hapmap]
rs3766378	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs4017448	0.95[ASN][1000 genomes]
rs4017458	0.95[ASN][1000 genomes]
rs4017459	0.93[ASN][1000 genomes]
rs4017460	0.95[ASN][1000 genomes]
rs4656940	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4656941	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656944	0.95[ASN][1000 genomes]
rs4656945	0.95[ASN][1000 genomes]
rs4656948	0.92[ASN][1000 genomes]
rs4656949	0.94[ASN][1000 genomes]
rs4656950	0.95[ASN][1000 genomes]
rs57483437	0.93[EUR][1000 genomes]
rs58418513	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59712018	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61803263	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61803285	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6676174	0.95[ASN][1000 genomes]
rs6685693	0.94[ASN][1000 genomes]
rs6698454	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6699162	0.93[ASN][1000 genomes]
rs6699166	0.95[ASN][1000 genomes]
rs6700146	0.95[ASN][1000 genomes]
rs72710762	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7410867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7412693	0.85[CEU][hapmap];0.85[CHB][hapmap];0.93[EUR][1000 genomes]
rs7412696	0.93[EUR][1000 genomes]
rs7414728	0.95[ASN][1000 genomes]
rs7419088	0.85[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7419110	0.85[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7419145	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs869167	0.94[ASN][1000 genomes]
rs869168	0.95[ASN][1000 genomes]
rs914793	0.93[ASN][1000 genomes]
rs952804	0.95[ASN][1000 genomes]
rs955370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs959047	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs955371	FKBP1AP1	trans	lymphoblastoid	seeQTL
rs955371	RHBG	cis	parietal	SCAN
rs955371	CD244	cis	lymphoblastoid	seeQTL
rs955371	CD244	Cis_1M	lymphoblastoid	RTeQTL
rs955371	CD5L	cis	parietal	SCAN
rs955371	DEDD	cis	cerebellum	SCAN
rs955371	RXFP4	cis	parietal	SCAN
rs955371	PPOX	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160832200-160837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:160832600-160835600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:160832600-160847400	Weak transcription	Spleen	Spleen
4	chr1:160833600-160840000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:160833800-160837400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:160834000-160837600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:160834200-160835800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:160834200-160837000	Enhancers	HepG2	liver
9	chr1:160834600-160837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:160834600-160838400	Enhancers	Fetal Intestine Small	intestine
11	chr1:160834600-160849000	Weak transcription	Ovary	ovary
12	chr1:160835000-160835800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:160835000-160838400	Enhancers	Fetal Intestine Large	intestine
14	chr1:160835400-160835600	Enhancers	A549	lung
15	chr1:160835400-160836400	Enhancers	Stomach Mucosa	stomach
16	chr1:160835400-160836800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:160835400-160836800	Enhancers	Liver	Liver
18	chr1:160835400-160837200	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:160835400-160837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:160835400-160846400	Weak transcription	Primary hematopoietic stem cells	blood

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