Variant report

Variant	rs10908807
Chromosome Location	chr1:160836714-160836715
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	TCF7L2	chr1:160836120-160836833	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: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11265498	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	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	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	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12036670	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037395	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037740	0.93[EUR][1000 genomes]
rs12037885	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12038419	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12038600	0.93[EUR][1000 genomes]
rs12039896	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12039959	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12040060	0.92[EUR][1000 genomes]
rs12040152	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	0.93[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	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]
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	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4656941	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4656943	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	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7412693	0.93[EUR][1000 genomes]
rs7412696	0.93[EUR][1000 genomes]
rs7414728	0.95[ASN][1000 genomes]
rs7419088	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7419110	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7419145	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]
rs955371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959047	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10908807	CD244	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 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	chr1:160832600-160847400	Weak transcription	Spleen	Spleen
3	chr1:160833600-160840000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:160833800-160837400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:160834000-160837600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:160834200-160837000	Enhancers	HepG2	liver
7	chr1:160834600-160837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:160834600-160838400	Enhancers	Fetal Intestine Small	intestine
9	chr1:160834600-160849000	Weak transcription	Ovary	ovary
10	chr1:160835000-160838400	Enhancers	Fetal Intestine Large	intestine
11	chr1:160835400-160836800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:160835400-160836800	Enhancers	Liver	Liver
13	chr1:160835400-160837200	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:160835400-160837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:160835400-160846400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:160835800-160836800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:160836000-160837000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:160836000-160837000	Enhancers	Small Intestine	intestine
19	chr1:160836200-160844600	Weak transcription	A549	lung
20	chr1:160836400-160844600	Weak transcription	Pancreas	Pancrea
21	chr1:160836600-160836800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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