Variant report

Variant	rs9595831
Chromosome Location	chr13:48580273-48580274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10220099	0.83[EUR][1000 genomes]
rs13378425	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2031775	0.83[EUR][1000 genomes]
rs2406701	0.98[EUR][1000 genomes]
rs28628659	0.83[EUR][1000 genomes]
rs28794608	0.98[EUR][1000 genomes]
rs4496017	0.97[EUR][1000 genomes]
rs55845516	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7317676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7319779	0.98[EUR][1000 genomes]
rs7983350	0.83[EUR][1000 genomes]
rs840431	0.97[EUR][1000 genomes]
rs840434	0.83[EUR][1000 genomes]
rs9316341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591118	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9591119	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9591120	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9591121	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9591122	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9591124	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9591125	0.98[EUR][1000 genomes]
rs9591126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595805	0.83[EUR][1000 genomes]
rs9595806	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9595809	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595810	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595811	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595814	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9595816	0.93[EUR][1000 genomes]
rs9595819	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595826	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595827	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595833	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48582800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr13:48576000-48583200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr13:48576000-48583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:48576000-48583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:48576000-48583600	Weak transcription	HSMMtube	muscle
6	chr13:48576000-48583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:48576000-48587000	Weak transcription	Primary B cells from cord blood	blood
8	chr13:48576000-48587000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:48576000-48588400	Weak transcription	Fetal Intestine Large	intestine
10	chr13:48576000-48589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr13:48576000-48590800	Weak transcription	Gastric	stomach
12	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
14	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
16	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
17	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
19	chr13:48576200-48592000	Weak transcription	Fetal Intestine Small	intestine
20	chr13:48576400-48589000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:48576600-48583200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr13:48576600-48583600	Weak transcription	Placenta	Placenta
24	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:48576600-48604800	Weak transcription	Dnd41	blood
27	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr13:48577800-48581600	Enhancers	NHEK	skin
29	chr13:48578600-48580600	Weak transcription	Hela-S3	cervix
30	chr13:48578800-48582400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:48578800-48583200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:48578800-48583600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr13:48578800-48583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr13:48579600-48581200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:48579600-48583600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr13:48579800-48581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:48579800-48583200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr13:48579800-48583600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:48580200-48580800	Enhancers	HSMM	muscle
40	chr13:48580200-48581200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:48580200-48581400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:48580200-48581400	Enhancers	HMEC	breast

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