Variant report

Variant	rs28392567
Chromosome Location	chr7:138250519-138250520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138245855..138247730-chr7:138249211..138250756,2	K562	blood:
2	chr7:138143492..138146637-chr7:138248575..138251275,3	MCF-7	breast:
3	chr7:138145044..138147071-chr7:138248876..138251719,2	K562	blood:
4	chr7:138245855..138248023-chr7:138249211..138253236,3	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10216085	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	0.91[AFR][1000 genomes]
rs10226487	0.91[AFR][1000 genomes]
rs10231698	0.91[AFR][1000 genomes]
rs10232597	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	0.91[AFR][1000 genomes]
rs10237069	0.91[AFR][1000 genomes]
rs10237544	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239129	0.86[AFR][1000 genomes]
rs10239202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239932	0.91[AFR][1000 genomes]
rs10241288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	0.91[AFR][1000 genomes]
rs10245088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	0.91[AFR][1000 genomes]
rs10253989	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	0.91[AFR][1000 genomes]
rs10254935	0.88[AFR][1000 genomes]
rs10256094	0.91[AFR][1000 genomes]
rs10256358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256619	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268912	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	0.91[AFR][1000 genomes]
rs10277465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1073255	0.91[AFR][1000 genomes]
rs13438568	0.81[AFR][1000 genomes]
rs13438570	0.91[AFR][1000 genomes]
rs28380017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.91[AFR][1000 genomes]
rs28498774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	0.91[AFR][1000 genomes]
rs28608602	0.91[AFR][1000 genomes]
rs28673291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.91[AFR][1000 genomes]
rs28694658	0.91[AFR][1000 genomes]
rs28706910	1.00[AMR][1000 genomes]
rs28707292	0.91[AFR][1000 genomes]
rs28729263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762120	0.94[AFR][1000 genomes]
rs28764878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883144	1.00[AMR][1000 genomes]
rs3847123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329204	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947993	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:138236800-138250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:138237000-138251200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr7:138237000-138251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:138237000-138252400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
11	chr7:138237400-138251400	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr7:138238200-138251200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr7:138238400-138250800	ZNF genes & repeats	Thymus	Thymus
14	chr7:138238400-138251400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:138238400-138251400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr7:138238400-138251400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr7:138238400-138253600	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr7:138238600-138251200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:138238600-138251600	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr7:138238600-138251800	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr7:138238600-138252200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr7:138239200-138251000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr7:138239400-138251000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr7:138239400-138252600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr7:138239600-138250800	ZNF genes & repeats	Fetal Brain Female	brain
26	chr7:138241400-138251000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr7:138241400-138251200	ZNF genes & repeats	Placenta	Placenta
28	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:138242800-138251400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:138244600-138251000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr7:138245200-138251000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr7:138246000-138251200	ZNF genes & repeats	Fetal Thymus	thymus
33	chr7:138246200-138250800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr7:138246200-138250800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:138246200-138250800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:138246200-138250800	ZNF genes & repeats	Fetal Kidney	kidney
37	chr7:138246200-138251200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:138246200-138251200	ZNF genes & repeats	Lung	lung
39	chr7:138246200-138251200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr7:138246200-138251400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:138246200-138251600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr7:138246200-138252000	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr7:138246400-138250800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:138246600-138250600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:138246600-138251200	ZNF genes & repeats	Spleen	Spleen
46	chr7:138246800-138250800	ZNF genes & repeats	Pancreas	Pancrea
47	chr7:138246800-138251400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr7:138246800-138251400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr7:138246800-138251400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr7:138246800-138252600	ZNF genes & repeats	Fetal Lung	lung

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