Variant report

Variant	rs13271803
Chromosome Location	chr8:9226991-9226992
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9226234..9227282-chr8:9688101..9689055,3	K562	blood:
2	chr8:9226621..9227308-chr8:9534051..9534690,2	MCF-7	breast:
3	chr8:9225162..9228698-chr8:9411632..9414803,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173273	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12550199	0.82[CHB][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap]
rs2409571	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs4345557	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap]
rs4361767	0.88[CHB][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap]
rs4538888	0.88[CHB][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap]
rs4840410	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs62493842	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6986685	0.90[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv6073	chr8:9189800-9234741	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv890341	chr8:9192927-9243428	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1031373	chr8:9216584-9234754	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13271803	MFHAS1	cis	cerebellum	SCAN
rs13271803	PPP1R3B	cis	cerebellum	SCAN
rs13271803	CTSB	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9226200-9244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:9226400-9227000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:9226400-9227000	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:9226400-9227200	Enhancers	Placenta	Placenta
5	chr8:9226600-9227000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr8:9226600-9227000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr8:9226600-9227000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr8:9226600-9227000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:9226600-9227000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr8:9226600-9227000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:9226600-9227000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:9226600-9227000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:9226600-9227000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:9226600-9227000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:9226600-9227000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr8:9226600-9227000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:9226600-9227000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:9226600-9227000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:9226600-9227000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr8:9226600-9227000	Active TSS	Fetal Brain Female	brain
21	chr8:9226600-9227000	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:9226600-9227000	Enhancers	Fetal Stomach	stomach
23	chr8:9226600-9227000	Active TSS	Psoas Muscle	Psoas
24	chr8:9226600-9227000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr8:9226600-9227000	Active TSS	HSMMtube	muscle
26	chr8:9226600-9227000	Flanking Active TSS	NHEK	skin
27	chr8:9226600-9227000	Flanking Active TSS	Osteobl	bone
28	chr8:9226600-9227200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:9226600-9227200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:9226600-9227200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:9226600-9227200	Enhancers	Adipose Nuclei	Adipose
32	chr8:9226600-9227200	Active TSS	Brain Angular Gyrus	brain
33	chr8:9226600-9227200	Active TSS	Brain Anterior Caudate	brain
34	chr8:9226600-9227200	Active TSS	Brain Substantia Nigra	brain
35	chr8:9226600-9227200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr8:9226600-9237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:9226800-9227000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:9226800-9227000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:9226800-9227000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr8:9226800-9227000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr8:9226800-9227000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:9226800-9227000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr8:9226800-9227000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:9226800-9227000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:9226800-9227000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr8:9226800-9227000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr8:9226800-9227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:9226800-9227000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:9226800-9227000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:9226800-9227000	Flanking Active TSS	Brain Germinal Matrix	brain

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