Variant report

Variant	rs7013471
Chromosome Location	chr8:8687325-8687326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8685713..8688062-chr8:8693014..8695350,2	K562	blood:
2	chr8:8680684..8683788-chr8:8684972..8687852,3	K562	blood:
3	chr8:8669602..8671376-chr8:8685847..8687587,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13275083	0.86[ASN][1000 genomes]
rs1510934	0.89[CEU][hapmap]
rs1877119	0.85[CEU][hapmap]
rs2409096	0.85[CEU][hapmap]
rs3789848	0.95[ASN][1000 genomes]
rs3789850	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs3827808	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4840367	0.86[ASN][1000 genomes]
rs4840368	0.86[ASN][1000 genomes]
rs4840369	0.81[ASN][1000 genomes]
rs4840370	0.83[ASN][1000 genomes]
rs7820738	0.81[CEU][hapmap]
rs907180	0.85[CEU][hapmap]
rs907181	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv890338	chr8:8669622-8707970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1015437	chr8:8681255-8723798	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7013471	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs7013471	RP11-10A14.5	cis	Whole Blood	GTEx
rs7013471	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8663400-8691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:8664200-8691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:8664400-8691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:8667200-8699200	Weak transcription	Aorta	Aorta
5	chr8:8667200-8701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:8667400-8693400	Weak transcription	Small Intestine	intestine
7	chr8:8667600-8701000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:8670000-8701200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:8670200-8701200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:8670400-8705400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:8670800-8692400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:8671000-8692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:8672000-8700200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:8674800-8701800	Weak transcription	Primary T cells from cord blood	blood
15	chr8:8675200-8699000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:8675800-8699800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:8676200-8699400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:8676600-8691400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:8678000-8688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:8678600-8694400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:8678800-8701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:8679600-8701400	Weak transcription	A549	lung
23	chr8:8679600-8701600	Weak transcription	HepG2	liver
24	chr8:8680400-8700200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:8680800-8687400	Weak transcription	Brain Angular Gyrus	brain
26	chr8:8681800-8700000	Weak transcription	Fetal Thymus	thymus
27	chr8:8683200-8691400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:8683200-8701400	Weak transcription	Fetal Intestine Small	intestine
29	chr8:8683800-8701000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:8684000-8691800	Weak transcription	NHDF-Ad	bronchial
31	chr8:8684200-8700800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:8684600-8691600	Weak transcription	HUVEC	blood vessel
33	chr8:8684600-8692000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:8684600-8703800	Weak transcription	Dnd41	blood
35	chr8:8685400-8687600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:8685400-8687600	Enhancers	Ovary	ovary
37	chr8:8685600-8687400	Enhancers	Fetal Brain Male	brain
38	chr8:8685600-8687600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:8685800-8688600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:8685800-8688600	Enhancers	Left Ventricle	heart
41	chr8:8686000-8687400	Enhancers	Fetal Lung	lung
42	chr8:8686000-8687600	Enhancers	K562	blood
43	chr8:8686000-8688600	Enhancers	Right Ventricle	heart
44	chr8:8686200-8691800	Weak transcription	HSMMtube	muscle
45	chr8:8686400-8687600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:8686400-8691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:8686400-8691800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:8686400-8693600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:8686400-8694800	Weak transcription	Gastric	stomach
50	chr8:8686400-8700000	Weak transcription	Spleen	Spleen

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