Variant report

Variant	rs4738835
Chromosome Location	chr8:61784348-61784349
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	chr8:61782330..61785349-chr8:61786739..61790519,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10086310	0.83[ASN][1000 genomes]
rs10086349	0.83[ASN][1000 genomes]
rs17826359	0.89[CHB][hapmap]
rs3763591	0.85[CHB][hapmap]
rs3829054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4237042	0.81[AFR][1000 genomes]
rs4342642	0.89[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7839701	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4738835	OTUB2	trans	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61769600-61785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:61769800-61788400	Weak transcription	Fetal Brain Female	brain
3	chr8:61775200-61789000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:61775400-61790800	Weak transcription	Fetal Kidney	kidney
5	chr8:61777600-61784800	Weak transcription	K562	blood
6	chr8:61778000-61789600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:61778200-61784600	Weak transcription	Brain Germinal Matrix	brain
8	chr8:61778400-61788600	Weak transcription	Pancreas	Pancrea
9	chr8:61778400-61789600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:61778600-61788600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:61778600-61792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:61778800-61788600	Weak transcription	Fetal Lung	lung
13	chr8:61778800-61789800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:61779200-61785800	Weak transcription	Fetal Stomach	stomach
15	chr8:61779400-61784400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:61779800-61785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:61780000-61787800	Weak transcription	Left Ventricle	heart
18	chr8:61780000-61788000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:61780000-61788600	Weak transcription	HSMMtube	muscle
20	chr8:61780200-61784600	Weak transcription	GM12878-XiMat	blood
21	chr8:61780200-61788600	Weak transcription	Esophagus	oesophagus
22	chr8:61780200-61788600	Weak transcription	Placenta	Placenta
23	chr8:61780400-61784400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:61780400-61784600	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:61780400-61784800	Weak transcription	Fetal Intestine Large	intestine
26	chr8:61780400-61785000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:61780400-61785400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:61780400-61788000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:61780400-61788000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:61780400-61788000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:61780400-61788400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:61780400-61788800	Weak transcription	Gastric	stomach
33	chr8:61780600-61784600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr8:61780800-61784800	Weak transcription	Primary B cells from cord blood	blood
35	chr8:61781400-61784800	Weak transcription	Fetal Intestine Small	intestine
36	chr8:61781600-61785600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:61782000-61784400	Weak transcription	Brain Substantia Nigra	brain
38	chr8:61782000-61785400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:61782200-61784400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:61782200-61784600	Weak transcription	Primary T cells from cord blood	blood
41	chr8:61782400-61784600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:61782400-61785000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:61782400-61785000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:61782400-61785200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:61782400-61785600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:61783400-61786400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:61783600-61785200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:61783600-61785400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:61783600-61786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:61783800-61786000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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