Variant report

Variant	rs9551847
Chromosome Location	chr13:30692067-30692068
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30690726..30692990-chr13:30715205..30717386,2	MCF-7	breast:
2	chr13:30687700..30689739-chr13:30690747..30693968,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1409506	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2151207	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61946863	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61946864	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8001967	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8002607	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9550527	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9550528	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9551845	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9551848	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9551849	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9551851	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9551852	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9551853	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9634323	0.87[AMR][1000 genomes];0.93[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	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30689400-30692600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr13:30689600-30692200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:30689600-30692400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:30689600-30692400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:30689600-30692400	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:30689600-30692600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr13:30689600-30692600	Weak transcription	Thymus	Thymus
8	chr13:30689600-30692800	Weak transcription	Fetal Thymus	thymus
9	chr13:30689600-30692800	Weak transcription	HMEC	breast
10	chr13:30689600-30693000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:30689600-30693000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:30689600-30693000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:30689600-30693200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:30689600-30693200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:30689600-30693200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:30689600-30693200	Weak transcription	HSMM	muscle
17	chr13:30689600-30693400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr13:30689600-30693400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:30689600-30693400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:30689600-30693400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:30689600-30693400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:30689600-30693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:30689600-30693400	Weak transcription	Fetal Intestine Small	intestine
24	chr13:30689600-30693400	Weak transcription	HSMMtube	muscle
25	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:30689600-30693600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:30689600-30697400	Weak transcription	Aorta	Aorta
28	chr13:30689600-30697800	Weak transcription	Spleen	Spleen
29	chr13:30689800-30692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:30689800-30693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:30689800-30693400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:30689800-30693400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:30689800-30693400	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:30689800-30693800	Weak transcription	Primary B cells from cord blood	blood
35	chr13:30690200-30692600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:30690200-30692600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:30690200-30692600	Weak transcription	Dnd41	blood
38	chr13:30690200-30692800	Weak transcription	NHEK	skin
39	chr13:30690200-30693400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr13:30690200-30693600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:30690200-30699800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:30690400-30692400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:30690400-30692800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:30690400-30693400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:30690800-30692400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:30690800-30693200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:30690800-30693600	Weak transcription	GM12878-XiMat	blood
48	chr13:30691000-30692600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:30691000-30692800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:30691200-30699400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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