Variant report

Variant	rs2846858
Chromosome Location	chr11:102177173-102177174
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	chr11:102175561..102178536-chr11:102186960..102189576,2	MCF-7	breast:
2	chr11:102176632..102179702-chr11:102185117..102189773,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000023445	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501998	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10501999	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225201	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225202	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225203	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11600522	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11602147	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11606268	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12098902	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12280343	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576911	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12787745	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12789170	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794196	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17763827	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17763887	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17769417	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17878708	0.93[ASN][1000 genomes]
rs1894113	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894114	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894115	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408344	0.86[ASN][1000 genomes]
rs2511293	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2604526	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2604527	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2604533	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2846848	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2846849	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2846857	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2852879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2852880	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852881	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2852882	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852891	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3132831	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35612369	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58277500	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61893629	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7480738	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924744	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7928663	0.92[ASN][1000 genomes]
rs7931341	0.92[ASN][1000 genomes]
rs7938790	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9665961	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2846858	BIRC3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102173200-102182400	Weak transcription	Gastric	stomach
2	chr11:102173600-102183800	Weak transcription	Lung	lung
3	chr11:102174400-102178400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr11:102174400-102178400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr11:102174800-102177400	Enhancers	Primary T cells from cord blood	blood
6	chr11:102174800-102178400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:102174800-102179600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:102175200-102179800	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:102175400-102178400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:102175400-102178400	Enhancers	Fetal Thymus	thymus
11	chr11:102175600-102178200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:102175600-102178800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:102176000-102177800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:102176000-102178000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:102176000-102178000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr11:102176000-102178400	Enhancers	Stomach Mucosa	stomach
17	chr11:102176200-102178200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:102176200-102178600	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:102176400-102177600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr11:102176400-102177800	Enhancers	Brain Hippocampus Middle	brain
21	chr11:102176400-102177800	Enhancers	Fetal Intestine Small	intestine
22	chr11:102176400-102178200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:102176400-102178200	Enhancers	Fetal Intestine Large	intestine
24	chr11:102176400-102178200	Enhancers	HepG2	liver
25	chr11:102176400-102178400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:102176400-102178400	Enhancers	Placenta	Placenta
27	chr11:102176400-102178400	Enhancers	Thymus	Thymus
28	chr11:102176400-102178400	Flanking Active TSS	Dnd41	blood
29	chr11:102176400-102178400	Flanking Active TSS	Hela-S3	cervix
30	chr11:102176400-102178400	Enhancers	HSMM	muscle
31	chr11:102176400-102178400	Flanking Active TSS	NHEK	skin
32	chr11:102176600-102177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:102176600-102177200	Enhancers	Colonic Mucosa	Colon
34	chr11:102176600-102177200	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:102176600-102177400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:102176600-102177400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:102176600-102177400	Enhancers	HSMMtube	muscle
38	chr11:102176600-102177600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:102176600-102177800	Enhancers	Brain Substantia Nigra	brain
40	chr11:102176600-102178200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:102176600-102178200	Enhancers	Brain Anterior Caudate	brain
42	chr11:102176600-102178200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:102176600-102178200	Enhancers	Fetal Lung	lung
44	chr11:102176600-102178400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:102176600-102178400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:102176600-102178400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr11:102176600-102178400	Enhancers	K562	blood
48	chr11:102176800-102177200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:102176800-102177200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:102176800-102177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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