Variant report

Variant	rs4237036
Chromosome Location	chr8:61701057-61701058
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	chr8:61687942..61689827-chr8:61698388..61701380,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10092214	0.87[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs10106752	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1017861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1017862	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs10283352	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12680437	1.00[YRI][hapmap]
rs13253647	1.00[YRI][hapmap]
rs13280978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473446	0.87[ASN][1000 genomes]
rs1483208	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17826359	1.00[YRI][hapmap]
rs2326570	1.00[YRI][hapmap]
rs2326571	1.00[YRI][hapmap]
rs2680297	1.00[YRI][hapmap]
rs28609390	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28710955	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35168272	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814483	1.00[YRI][hapmap]
rs4288413	0.85[ASW][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs4738813	0.87[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap]
rs4738816	0.87[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap]
rs4738817	1.00[YRI][hapmap]
rs4738826	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738828	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4738829	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs617834	1.00[YRI][hapmap]
rs652422	1.00[YRI][hapmap]
rs671204	1.00[YRI][hapmap]
rs7011801	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7822621	1.00[YRI][hapmap]
rs876957	0.92[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs900503	0.87[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap]
rs900504	1.00[YRI][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4237036	TOX	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
3	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
4	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
5	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
8	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:61688800-61719600	Weak transcription	NHEK	skin
13	chr8:61689400-61702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
15	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
19	chr8:61692200-61719400	Weak transcription	HMEC	breast
20	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
21	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:61694800-61704000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:61694800-61708200	Weak transcription	A549	lung
25	chr8:61695000-61703800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:61695000-61703800	Weak transcription	Gastric	stomach
27	chr8:61695000-61704200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:61695000-61704200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:61695000-61705000	Weak transcription	Fetal Stomach	stomach
30	chr8:61695000-61705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:61695000-61705200	Weak transcription	Adipose Nuclei	Adipose
32	chr8:61695000-61705200	Weak transcription	Liver	Liver
33	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
34	chr8:61695200-61704600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:61695200-61704800	Weak transcription	Fetal Lung	lung
36	chr8:61695200-61704800	Weak transcription	HUVEC	blood vessel
37	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:61695400-61704800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:61695600-61703800	Weak transcription	HSMM	muscle
40	chr8:61696000-61705400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:61696200-61705000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:61696400-61705200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:61696400-61710800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:61696600-61703600	Weak transcription	HSMMtube	muscle
46	chr8:61697000-61703400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:61697200-61704200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:61697200-61704800	Weak transcription	HepG2	liver
49	chr8:61697200-61705200	Weak transcription	Lung	lung
50	chr8:61697200-61705200	Weak transcription	Right Atrium	heart

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