Variant report

Variant	rs12048113
Chromosome Location	chr1:160828344-160828345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160822600..160825606-chr1:160827669..160829423,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10908807	0.93[EUR][1000 genomes]
rs11265498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11265499	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11265500	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11265501	0.93[EUR][1000 genomes]
rs12035295	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12035537	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12036607	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12036670	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12037395	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12037740	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037885	0.86[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12038419	0.85[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12038600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039896	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040060	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12040152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12040750	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12046019	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046021	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12047127	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412849	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1576964	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1855188	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1855189	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766378	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4656940	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656941	0.84[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656943	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs480104	0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs501026	0.82[JPT][hapmap]
rs501137	0.83[JPT][hapmap]
rs560681	0.81[JPT][hapmap]
rs57483437	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575217	0.82[JPT][hapmap]
rs579589	0.81[JPT][hapmap]
rs58418513	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59712018	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61803263	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61803285	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6691072	0.83[JPT][hapmap]
rs6698454	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72710762	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7410867	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7412693	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412696	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7419145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs955370	0.91[EUR][1000 genomes]
rs955371	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][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	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12048113	CD244	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160821000-160830800	Weak transcription	Spleen	Spleen
2	chr1:160823000-160829000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:160824600-160831200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:160825200-160830600	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:160825800-160828800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:160826400-160830600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:160826400-160830800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:160826400-160831800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:160826600-160830200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:160826600-160830400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:160826600-160832200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:160826800-160828600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:160827000-160830600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:160827400-160830000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:160827600-160829200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:160828000-160828400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:160828000-160828600	Enhancers	Fetal Intestine Large	intestine
18	chr1:160828000-160828600	Enhancers	Right Atrium	heart
19	chr1:160828000-160828600	Enhancers	Stomach Mucosa	stomach
20	chr1:160828000-160828800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:160828000-160829200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:160828000-160829800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr1:160828200-160828400	Enhancers	Fetal Heart	heart
24	chr1:160828200-160828600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr1:160828200-160829000	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:160828200-160829000	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr1:160828200-160829800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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