Variant report

Variant	rs4738826
Chromosome Location	chr8:61717137-61717138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61712180..61713990-chr8:61715650..61717311,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10092214	0.82[MKK][hapmap];1.00[YRI][hapmap]
rs10106752	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1017861	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs1017862	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10283352	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12680437	1.00[YRI][hapmap]
rs13253647	1.00[YRI][hapmap]
rs13280978	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473446	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1483208	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17826359	1.00[YRI][hapmap]
rs2680297	1.00[YRI][hapmap]
rs28609390	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28710955	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35168272	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3814483	1.00[YRI][hapmap]
rs4237036	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
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];0.92[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];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap]
rs4738817	1.00[YRI][hapmap]
rs4738828	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738829	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs617834	1.00[YRI][hapmap]
rs652422	1.00[YRI][hapmap]
rs671204	1.00[YRI][hapmap]
rs7011801	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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];0.92[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	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
3	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
4	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
5	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
6	esv3430351	chr8:61716904-61717178	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4738826	TOX	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:61688800-61719600	Weak transcription	NHEK	skin
3	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:61692200-61719400	Weak transcription	HMEC	breast
5	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
6	chr8:61695200-61722600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:61696400-61736400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:61705400-61728200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:61705600-61720000	Weak transcription	NH-A	brain
11	chr8:61705600-61721000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:61705600-61721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:61705600-61725800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:61705600-61726600	Weak transcription	Right Ventricle	heart
15	chr8:61705600-61728000	Weak transcription	Small Intestine	intestine
16	chr8:61705600-61742400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:61705600-61742600	Weak transcription	Spleen	Spleen
18	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
20	chr8:61705600-61743000	Weak transcription	Lung	lung
21	chr8:61705800-61720400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:61705800-61720400	Weak transcription	K562	blood
23	chr8:61705800-61721600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:61705800-61721800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:61705800-61723400	Weak transcription	Esophagus	oesophagus
26	chr8:61705800-61733400	Weak transcription	Adipose Nuclei	Adipose
27	chr8:61705800-61735000	Weak transcription	Brain Substantia Nigra	brain
28	chr8:61705800-61742400	Weak transcription	Gastric	stomach
29	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
30	chr8:61706000-61723600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:61706200-61720800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:61706600-61723200	Weak transcription	Left Ventricle	heart
33	chr8:61707200-61717400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:61708600-61719400	Weak transcription	Fetal Thymus	thymus
35	chr8:61708600-61722800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:61708600-61722800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:61708600-61722800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:61708800-61720400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:61708800-61720400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:61708800-61736400	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:61708800-61739000	Weak transcription	A549	lung
42	chr8:61709600-61728200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:61709800-61725200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:61710000-61720400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:61710400-61719400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr8:61710400-61719400	Weak transcription	Brain Germinal Matrix	brain
47	chr8:61710800-61719600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:61711000-61719600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:61711000-61721200	Weak transcription	Liver	Liver
50	chr8:61711000-61721200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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