Variant report

Variant	rs4335136
Chromosome Location	chr8:20064771-20064772
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	chr8:20061426..20067342-chr8:20067355..20071432,7	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1042426	0.82[ASW][hapmap];0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17092154	0.86[CHB][hapmap];0.88[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17411988	0.83[CEU][hapmap];0.86[AMR][1000 genomes]
rs73214061	0.90[AMR][1000 genomes];0.94[EUR][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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4335136	PDGFRL	cis	cerebellum	SCAN
rs4335136	PDLIM2	cis	cerebellum	SCAN
rs4335136	C11orf1	trans	parietal	SCAN
rs4335136	TNFRSF10A	cis	cerebellum	SCAN
rs4335136	IRF9	trans	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056000-20066200	Weak transcription	Esophagus	oesophagus
2	chr8:20056200-20068200	Weak transcription	Colonic Mucosa	Colon
3	chr8:20056200-20072200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20056400-20066400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:20056400-20066600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:20056800-20066400	Weak transcription	Fetal Kidney	kidney
8	chr8:20057000-20066400	Weak transcription	Thymus	Thymus
9	chr8:20057000-20066600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:20057000-20066600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:20057000-20066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:20057000-20066800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:20058000-20068000	Weak transcription	Spleen	Spleen
14	chr8:20058600-20066800	Weak transcription	A549	lung
15	chr8:20059200-20066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:20059200-20067800	Weak transcription	Hela-S3	cervix
17	chr8:20059600-20066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:20059600-20070000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:20059800-20066400	Weak transcription	Aorta	Aorta
20	chr8:20059800-20066600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:20059800-20066600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:20060000-20066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:20060000-20066600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:20060600-20066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:20060600-20068000	Weak transcription	GM12878-XiMat	blood
26	chr8:20061000-20066600	Weak transcription	Brain Germinal Matrix	brain
27	chr8:20061000-20066600	Weak transcription	Fetal Brain Female	brain
28	chr8:20061000-20066800	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:20061000-20071000	Weak transcription	Fetal Brain Male	brain
30	chr8:20061200-20066600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:20061400-20066400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:20061400-20066600	Weak transcription	HUVEC	blood vessel
33	chr8:20061400-20070800	Weak transcription	Gastric	stomach
34	chr8:20061400-20081200	Strong transcription	Primary B cells from cord blood	blood
35	chr8:20061600-20064800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:20061600-20064800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:20061600-20066600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:20061600-20067000	Weak transcription	Fetal Lung	lung
39	chr8:20061600-20074800	Strong transcription	Dnd41	blood
40	chr8:20061600-20085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:20061600-20086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:20061800-20064800	Strong transcription	Left Ventricle	heart
43	chr8:20061800-20066600	Weak transcription	Brain Angular Gyrus	brain
44	chr8:20061800-20066600	Weak transcription	Brain Substantia Nigra	brain
45	chr8:20061800-20066600	Weak transcription	Right Ventricle	heart
46	chr8:20061800-20067200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:20061800-20068000	Weak transcription	Pancreas	Pancrea
48	chr8:20061800-20079000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:20061800-20079000	Strong transcription	HSMM	muscle
50	chr8:20061800-20079400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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