Variant report

Variant	rs10504321
Chromosome Location	chr8:61812901-61812902
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61812523..61815203-chr8:61818659..61820454,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12680914	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12680923	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12682244	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16926576	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16926582	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1812535	0.81[JPT][hapmap]
rs2169818	0.81[JPT][hapmap]
rs4123861	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4609230	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55792263	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs55832112	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57065489	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58187777	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58610284	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59503990	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61356857	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61525594	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72652548	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72652549	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72652550	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7819622	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10504321	RAB2A	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61811400-61814000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:61811400-61815600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr8:61811600-61813200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:61811800-61813000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr8:61811800-61813000	Enhancers	Stomach Mucosa	stomach
6	chr8:61811800-61817000	Enhancers	Fetal Thymus	thymus
7	chr8:61812000-61813000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:61812000-61813000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr8:61812000-61813000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:61812000-61813000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:61812000-61813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:61812000-61813200	Enhancers	Fetal Intestine Small	intestine
13	chr8:61812000-61817200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
15	chr8:61812200-61813000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
17	chr8:61812400-61813400	Enhancers	Colonic Mucosa	Colon
18	chr8:61812400-61815600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:61812600-61813000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:61812600-61813400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr8:61812600-61815200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:61812600-61815800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:61812800-61813000	Enhancers	Primary B cells from cord blood	blood
24	chr8:61812800-61813000	Active TSS	Rectal Smooth Muscle	rectum
25	chr8:61812800-61813000	Enhancers	GM12878-XiMat	blood
26	chr8:61812800-61813000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:61812800-61813400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr8:61812800-61814400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:61812800-61815200	Weak transcription	Small Intestine	intestine
30	chr8:61812800-61815400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:61812800-61815600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:61812800-61815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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