Variant report

Variant	rs13274028
Chromosome Location	chr8:8729193-8729194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8729141..8730774-chr8:8738935..8740883,2	MCF-7	breast:
2	chr8:8728731..8732330-chr8:8733587..8735622,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1039917	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs1510934	0.81[CEU][hapmap]
rs5023278	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs907180	0.85[CEU][hapmap]
rs907181	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
8	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
9	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
10	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
11	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1030977	chr8:8725992-8739514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1026305	chr8:8726128-8739514	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs13274028	BLK	cis	parietal	SCAN
rs13274028	FAM167A	cis	parietal	SCAN
rs13274028	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs13274028	CTSB	cis	cerebellum	SCAN
rs13274028	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs13274028	FLJ10661	cis	cerebellum	SCAN
rs13274028	CLDN23	cis	multi-tissue	Pritchard
rs13274028	MFHAS1	cis	cerebellum	SCAN
rs13274028	C8orf13	cis	multi-tissue	Pritchard
rs13274028	PRSS55	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
2	chr8:8709400-8729400	Weak transcription	NHLF	lung
3	chr8:8709600-8730000	Weak transcription	HSMMtube	muscle
4	chr8:8714400-8730000	Weak transcription	Aorta	Aorta
5	chr8:8714800-8730000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:8717800-8735200	Weak transcription	Esophagus	oesophagus
7	chr8:8718000-8730000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:8718200-8729800	Weak transcription	Right Ventricle	heart
9	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:8718600-8729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:8718600-8729800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:8718800-8730400	Weak transcription	HSMM	muscle
13	chr8:8719000-8730400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:8719800-8729400	Weak transcription	NH-A	brain
15	chr8:8723600-8729200	Weak transcription	Gastric	stomach
16	chr8:8723600-8729200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:8724600-8735000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:8725200-8730000	Enhancers	Fetal Thymus	thymus
19	chr8:8725400-8730000	Enhancers	Fetal Brain Male	brain
20	chr8:8725800-8731000	Enhancers	Primary B cells from cord blood	blood
21	chr8:8725800-8732800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr8:8726000-8729400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:8726000-8730600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:8726000-8730600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:8726000-8731000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:8726000-8731600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:8726000-8732200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr8:8726000-8732200	Enhancers	Fetal Intestine Large	intestine
29	chr8:8726000-8732600	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:8726200-8730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:8726400-8729200	Enhancers	Colon Smooth Muscle	Colon
32	chr8:8726600-8729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:8726800-8729400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:8726800-8729800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:8726800-8737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:8726800-8737600	Weak transcription	NHEK	skin
37	chr8:8727000-8729400	Weak transcription	Brain Germinal Matrix	brain
38	chr8:8727000-8729800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:8727000-8730000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:8727000-8731200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:8727200-8729200	Enhancers	A549	lung
42	chr8:8727200-8729800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:8727200-8729800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:8727200-8729800	Enhancers	Thymus	Thymus
45	chr8:8727200-8730600	Enhancers	Placenta	Placenta
46	chr8:8727200-8730800	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:8727200-8732800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:8727400-8729400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:8727400-8729600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:8727400-8729800	Enhancers	Primary T cells fromperipheralblood	blood

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