Variant report

Variant	rs527421
Chromosome Location	chr8:103132854-103132855
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	chr8:103088794..103091279-chr8:103132537..103134956,2	K562	blood:
2	chr8:103129718..103133992-chr8:103134805..103138306,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266756	Chromatin interaction
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10111484	0.88[LWK][hapmap];0.92[YRI][hapmap]
rs11779982	0.85[YRI][hapmap]
rs1269692	0.81[CHB][hapmap]
rs498666	0.81[CHB][hapmap]
rs503374	0.86[JPT][hapmap]
rs509608	0.86[JPT][hapmap]
rs555800	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637403	0.81[CHB][hapmap]
rs646836	0.83[ASN][1000 genomes]
rs659398	0.80[ASN][1000 genomes]
rs6987653	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs527421	SLC25A32	cis	parietal	SCAN
rs527421	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103119200-103135200	Weak transcription	Spleen	Spleen
2	chr8:103120400-103133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:103120400-103133400	Weak transcription	Fetal Brain Female	brain
4	chr8:103120400-103134200	Weak transcription	Lung	lung
5	chr8:103120400-103135400	Weak transcription	Placenta	Placenta
6	chr8:103120800-103134200	Weak transcription	Fetal Stomach	stomach
7	chr8:103121600-103133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:103121800-103133200	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:103123400-103134200	Weak transcription	NHDF-Ad	bronchial
10	chr8:103124800-103133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:103124800-103134000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:103125600-103133200	Weak transcription	Primary T cells from cord blood	blood
13	chr8:103126800-103134200	Weak transcription	Right Atrium	heart
14	chr8:103127000-103134200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:103127200-103133200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:103127200-103133400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:103127200-103134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:103127600-103134000	Weak transcription	Fetal Kidney	kidney
19	chr8:103128000-103133200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:103128000-103134400	Weak transcription	GM12878-XiMat	blood
21	chr8:103128200-103133600	Weak transcription	Fetal Brain Male	brain
22	chr8:103129000-103134800	Enhancers	Ovary	ovary
23	chr8:103129600-103134200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:103129800-103134200	Weak transcription	Psoas Muscle	Psoas
25	chr8:103130000-103134800	Enhancers	Fetal Heart	heart
26	chr8:103130600-103134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:103130800-103133200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:103130800-103135000	Weak transcription	Right Ventricle	heart
29	chr8:103131800-103133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103132000-103133200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:103132000-103134600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:103132200-103133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:103132400-103133400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:103132400-103134200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:103132600-103133400	Enhancers	Left Ventricle	heart
36	chr8:103132600-103135000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:103132600-103135000	Weak transcription	Fetal Lung	lung
38	chr8:103132800-103134000	Weak transcription	Aorta	Aorta

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