Variant report

Variant	rs6982175
Chromosome Location	chr8:61812553-61812554
allele	C/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: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4289856	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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
rs6982175	RAB2A	cis	parietal	SCAN

Chromatin state (count:33 , 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	chr8:61811800-61812600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:61811800-61813000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr8:61811800-61813000	Enhancers	Stomach Mucosa	stomach
7	chr8:61811800-61817000	Enhancers	Fetal Thymus	thymus
8	chr8:61812000-61812600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr8:61812000-61812600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:61812000-61812800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:61812000-61812800	Enhancers	Fetal Intestine Large	intestine
12	chr8:61812000-61812800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:61812000-61813000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:61812000-61813000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr8:61812000-61813000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:61812000-61813000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:61812000-61813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:61812000-61813200	Enhancers	Fetal Intestine Small	intestine
19	chr8:61812000-61817200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
21	chr8:61812200-61812600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr8:61812200-61812600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:61812200-61812800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:61812200-61812800	Enhancers	Small Intestine	intestine
25	chr8:61812200-61812800	Flanking Active TSS	GM12878-XiMat	blood
26	chr8:61812200-61813000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
28	chr8:61812400-61812600	Enhancers	Primary B cells from cord blood	blood
29	chr8:61812400-61812600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr8:61812400-61812600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:61812400-61812600	Bivalent Enhancer	K562	blood
32	chr8:61812400-61813400	Enhancers	Colonic Mucosa	Colon
33	chr8:61812400-61815600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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