Variant report

Variant	rs9595871
Chromosome Location	chr13:48794101-48794102
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	chr13:48791747..48798562-chr13:48804762..48808839,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11839064	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1359861	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17071466	1.00[ASN][1000 genomes]
rs1752134	0.83[ASN][1000 genomes]
rs1854177	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2406803	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765076	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35537731	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890027	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4500616	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942755	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4942756	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942758	1.00[ASN][1000 genomes]
rs551034	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56762281	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs637390	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs637831	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7318104	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7322824	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485008	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7981621	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7982500	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7984127	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7987321	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988173	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7988389	0.87[ASN][1000 genomes]
rs7994451	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7998964	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000847	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526458	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526459	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534981	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9534986	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534995	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956169	1.00[ASN][1000 genomes]
rs9591144	1.00[ASN][1000 genomes]
rs9591146	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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48789000-48796600	Weak transcription	Ovary	ovary
2	chr13:48789400-48796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48789600-48796800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:48790200-48795200	Weak transcription	Osteobl	bone
5	chr13:48791600-48794400	Weak transcription	Fetal Intestine Large	intestine
6	chr13:48791600-48794600	Weak transcription	Fetal Intestine Small	intestine
7	chr13:48792600-48794400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:48792600-48795000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:48792800-48794800	Enhancers	Primary T cells from cord blood	blood
10	chr13:48792800-48794800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr13:48792800-48794800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr13:48793000-48794200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr13:48793000-48794600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr13:48793200-48794800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr13:48793200-48795200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr13:48793600-48795200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr13:48793800-48795000	Enhancers	Thymus	Thymus
18	chr13:48794000-48794200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr13:48794000-48794200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr13:48794000-48794200	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:48794000-48794600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr13:48794000-48794800	Enhancers	Dnd41	blood
23	chr13:48794000-48795000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr13:48794000-48795200	Enhancers	Primary B cells from cord blood	blood
25	chr13:48794000-48795200	Enhancers	Small Intestine	intestine
26	chr13:48794000-48796000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr13:48794000-48796600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:48794000-48796800	Enhancers	Fetal Thymus	thymus
29	chr13:48794000-48797200	Enhancers	Primary B cells from peripheral blood	blood
30	chr13:48794000-48797400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr13:48794000-48797400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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