Variant report

Variant	rs9603368
Chromosome Location	chr13:38939667-38939668
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	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11693	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330958	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1330960	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330964	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330965	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360385	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553300	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576610	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576611	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980984	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019520	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150468	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150469	1.00[ASN][1000 genomes]
rs2231323	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231328	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231330	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231332	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455412	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481876	1.00[ASN][1000 genomes]
rs2481877	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481879	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481880	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485783	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485785	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485786	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2485789	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496456	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496473	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496475	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496476	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943581	0.83[ASN][1000 genomes]
rs4943583	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943584	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943586	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563608	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563609	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335723	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285122	1.00[ASN][1000 genomes]
rs9532209	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532218	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548318	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548320	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548328	0.90[AFR][1000 genomes]
rs986773	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1851668	chr13:38928976-38948851	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38925800-38939800	Weak transcription	Small Intestine	intestine
2	chr13:38926000-38939800	Weak transcription	Brain Germinal Matrix	brain
3	chr13:38926200-38947000	Weak transcription	Ovary	ovary
4	chr13:38926200-38947000	Weak transcription	Hela-S3	cervix
5	chr13:38927400-38943200	Weak transcription	K562	blood
6	chr13:38929800-38939800	Weak transcription	HSMMtube	muscle
7	chr13:38931400-38941000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:38933600-38940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:38933600-38943000	Weak transcription	Fetal Heart	heart
10	chr13:38933800-38939800	Weak transcription	NHDF-Ad	bronchial
11	chr13:38936400-38941200	Weak transcription	NHLF	lung
12	chr13:38936400-38947200	Weak transcription	HepG2	liver
13	chr13:38936600-38940200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:38937600-38940800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:38937600-38941000	Weak transcription	HMEC	breast
16	chr13:38937800-38939800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:38937800-38940400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:38937800-38941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:38938000-38939800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:38938000-38939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:38938000-38939800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:38938000-38939800	Weak transcription	Adipose Nuclei	Adipose
23	chr13:38938000-38939800	Weak transcription	Fetal Thymus	thymus
24	chr13:38938000-38939800	Weak transcription	Dnd41	blood
25	chr13:38938000-38939800	Weak transcription	HSMM	muscle
26	chr13:38938000-38940000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr13:38938000-38940200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:38938000-38940200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:38938000-38940600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:38938000-38940600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:38938000-38940800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr13:38938000-38940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:38938000-38941000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:38938000-38941000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:38938000-38941000	Weak transcription	HUVEC	blood vessel
36	chr13:38938000-38941000	Weak transcription	NHEK	skin
37	chr13:38938000-38941000	Weak transcription	Osteobl	bone
38	chr13:38938000-38941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:38938000-38943200	Weak transcription	Fetal Brain Female	brain
40	chr13:38938000-38943400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:38938000-38946800	Weak transcription	Liver	Liver
42	chr13:38938000-38947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:38938000-38947200	Weak transcription	Fetal Kidney	kidney
44	chr13:38938200-38939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:38938200-38939800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr13:38938200-38941000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:38938800-38939800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr13:38939000-38940800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:38939200-38940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr13:38939600-38940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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