Variant report

Variant	rs7603324
Chromosome Location	chr2:30381187-30381188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
2	chr2:30372153..30375046-chr2:30381081..30382923,2	MCF-7	breast:
3	chr2:30376508..30379108-chr2:30379588..30381251,2	K562	blood:
4	chr2:30377733..30380914-chr2:30380997..30384008,4	MCF-7	breast:
5	chr2:30377345..30379521-chr2:30379868..30383212,4	K562	blood:

Variant related genes	Relation type
ENSG00000233862	Chromatin interaction
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11127257	0.86[EUR][1000 genomes]
rs11127258	0.89[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs1137288	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688623	0.85[EUR][1000 genomes]
rs11690964	0.86[EUR][1000 genomes]
rs11903016	0.86[EUR][1000 genomes]
rs12463847	0.80[ASN][1000 genomes]
rs12620501	0.89[EUR][1000 genomes]
rs12991494	0.88[EUR][1000 genomes]
rs13017699	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs13397907	0.81[ASN][1000 genomes]
rs17734815	0.86[EUR][1000 genomes]
rs2276548	0.83[EUR][1000 genomes]
rs2361753	0.86[EUR][1000 genomes]
rs3087895	0.83[ASN][1000 genomes]
rs34125526	0.89[EUR][1000 genomes]
rs35466989	0.89[EUR][1000 genomes]
rs35640159	0.87[EUR][1000 genomes]
rs3754535	0.82[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs3768667	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs4264597	0.81[JPT][hapmap]
rs4465805	0.86[EUR][1000 genomes]
rs4951983	0.83[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs4952098	0.80[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs4952102	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4952105	0.85[JPT][hapmap]
rs55735005	0.82[ASN][1000 genomes]
rs55869928	0.86[EUR][1000 genomes]
rs62141084	0.85[EUR][1000 genomes]
rs62141087	0.87[EUR][1000 genomes]
rs62141088	0.87[EUR][1000 genomes]
rs6747196	0.90[EUR][1000 genomes]
rs7567202	0.83[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7600457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7603324	ACA10	trans	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:30371800-30385000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:30373400-30381400	Weak transcription	HMEC	breast
5	chr2:30373800-30385200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:30374000-30381400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:30374000-30385200	Strong transcription	Placenta	Placenta
8	chr2:30374000-30386000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30374000-30387400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:30374000-30387400	Weak transcription	Psoas Muscle	Psoas
11	chr2:30374000-30387400	Weak transcription	Hela-S3	cervix
12	chr2:30374200-30382600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:30374200-30382800	Weak transcription	K562	blood
14	chr2:30374400-30383400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:30374400-30386200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:30374600-30386200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:30374800-30381800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:30374800-30384400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:30374800-30387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:30375000-30383800	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:30375200-30384400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:30376200-30382200	Strong transcription	Primary B cells from cord blood	blood
23	chr2:30376200-30384200	Strong transcription	HSMM	muscle
24	chr2:30376400-30384000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:30376400-30384800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:30376800-30384800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:30377800-30384600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:30378000-30384000	Weak transcription	Small Intestine	intestine
29	chr2:30378400-30386000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:30378400-30386000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:30378600-30381800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:30378600-30383400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:30378600-30383600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:30378600-30383600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:30378600-30383600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:30378600-30383600	Strong transcription	Brain Cingulate Gyrus	brain
37	chr2:30378600-30384200	Strong transcription	Adipose Nuclei	Adipose
38	chr2:30378600-30384800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:30378600-30386200	Strong transcription	Primary T cells from cord blood	blood
40	chr2:30378800-30382200	Strong transcription	Left Ventricle	heart
41	chr2:30378800-30383400	Strong transcription	NHEK	skin
42	chr2:30378800-30383600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:30378800-30383600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:30378800-30384600	Strong transcription	NHDF-Ad	bronchial
45	chr2:30378800-30385000	Strong transcription	Fetal Thymus	thymus
46	chr2:30378800-30385800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:30378800-30386000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:30379000-30382400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:30379000-30383200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:30379000-30383600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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