Variant report

Variant	rs13438570
Chromosome Location	chr7:138215812-138215813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138210663..138212174-chr7:138214247..138217057,2	K562	blood:
2	chr7:138208149..138212186-chr7:138212617..138217057,4	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10216325	1.00[YRI][hapmap]
rs10224063	1.00[AMR][1000 genomes]
rs10224459	0.89[AFR][1000 genomes]
rs10224559	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10226487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227148	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	1.00[AMR][1000 genomes]
rs10231698	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232500	1.00[AMR][1000 genomes]
rs10232597	0.88[AFR][1000 genomes]
rs10234810	0.91[AFR][1000 genomes]
rs10236859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237544	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10237720	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10239129	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239202	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10239932	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240387	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10241288	0.88[YRI][hapmap];0.91[AFR][1000 genomes]
rs10241942	0.94[AFR][1000 genomes]
rs10242105	0.94[AFR][1000 genomes]
rs10243069	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245088	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10248027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10248604	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249171	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10253989	0.80[YRI][hapmap];0.80[AFR][1000 genomes]
rs10254196	1.00[AMR][1000 genomes]
rs10254440	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254935	0.85[AFR][1000 genomes]
rs10256094	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256358	0.94[AFR][1000 genomes]
rs10256619	0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs10256953	1.00[AMR][1000 genomes]
rs10258403	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10259673	0.94[AFR][1000 genomes]
rs10261219	1.00[AMR][1000 genomes]
rs10261236	0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10268912	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs10272478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10277465	0.94[AFR][1000 genomes]
rs10278741	0.94[AFR][1000 genomes]
rs10281429	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.94[AFR][1000 genomes]
rs1073255	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs28361932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28380017	0.89[AFR][1000 genomes]
rs28392567	0.91[AFR][1000 genomes]
rs28407067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28435503	1.00[AMR][1000 genomes]
rs28480333	1.00[AMR][1000 genomes]
rs28498774	0.91[AFR][1000 genomes]
rs28502705	0.94[AFR][1000 genomes]
rs28514575	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.94[AFR][1000 genomes]
rs28546247	1.00[AMR][1000 genomes]
rs28584756	0.94[AFR][1000 genomes]
rs28593099	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28608602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28673291	0.91[AFR][1000 genomes]
rs28688534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28691741	1.00[AMR][1000 genomes]
rs28694658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28729263	0.91[AFR][1000 genomes]
rs28762120	0.85[AFR][1000 genomes]
rs28764878	0.91[AFR][1000 genomes]
rs28816768	0.91[AFR][1000 genomes]
rs28822161	0.88[AFR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs3847123	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs3847124	0.89[YRI][hapmap];0.94[AFR][1000 genomes]
rs4329204	0.88[AFR][1000 genomes]
rs9986844	0.81[AFR][1000 genomes];1.00[AMR][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	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:138204600-138216200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:138208200-138216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:138208600-138216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:138209400-138216000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:138209400-138216000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
7	chr7:138209400-138216000	ZNF genes & repeats	Dnd41	blood
8	chr7:138210400-138216200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:138212800-138222600	Weak transcription	Fetal Heart	heart
10	chr7:138213000-138216000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr7:138213000-138216000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:138213000-138216200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:138213000-138216200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:138213000-138221200	Weak transcription	Gastric	stomach
15	chr7:138213000-138221400	Weak transcription	Lung	lung
16	chr7:138213000-138221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:138213000-138222800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:138213000-138222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:138213000-138223000	Weak transcription	Hela-S3	cervix
20	chr7:138213000-138223200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:138213000-138223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:138213000-138223800	Weak transcription	Stomach Mucosa	stomach
23	chr7:138213000-138224800	Weak transcription	HSMM	muscle
24	chr7:138213000-138225000	Weak transcription	Fetal Brain Male	brain
25	chr7:138213000-138230800	Weak transcription	NHLF	lung
26	chr7:138213000-138234000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:138213000-138234800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:138213000-138235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:138213000-138235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:138213000-138235800	Weak transcription	Brain Angular Gyrus	brain
31	chr7:138213000-138235800	Weak transcription	Pancreas	Pancrea
32	chr7:138213000-138235800	Weak transcription	NHDF-Ad	bronchial
33	chr7:138213000-138235800	Weak transcription	Osteobl	bone
34	chr7:138213000-138236800	Weak transcription	HSMMtube	muscle
35	chr7:138213000-138238600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:138213000-138239400	Weak transcription	Right Atrium	heart
37	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:138213200-138216000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:138213200-138216000	Strong transcription	Fetal Lung	lung
40	chr7:138213200-138221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:138213200-138222400	Weak transcription	Brain Substantia Nigra	brain
42	chr7:138213200-138235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:138213200-138235800	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:138213200-138236000	Weak transcription	Right Ventricle	heart
45	chr7:138213400-138216000	Strong transcription	Primary B cells from cord blood	blood
46	chr7:138213400-138223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:138213400-138225200	Weak transcription	Brain Anterior Caudate	brain
48	chr7:138213600-138216000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:138213600-138223400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:138214000-138216000	Strong transcription	Fetal Muscle Trunk	muscle

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