Variant report

Variant	rs1813003
Chromosome Location	chr7:138250391-138250392
allele	A/C
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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10155993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10215281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10227693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10232771	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10247380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10248731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1030961	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1077772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1116324	0.83[ASN][1000 genomes]
rs11976614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12112459	0.83[ASN][1000 genomes]
rs12666310	0.90[ASN][1000 genomes]
rs1363053	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1421604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1544733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1616318	0.85[ASN][1000 genomes]
rs1659830	0.82[ASN][1000 genomes]
rs1673203	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1673204	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673205	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1673206	0.86[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1673207	0.88[ASN][1000 genomes]
rs17364560	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs17461551	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1874326	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2353354	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2353355	0.94[ASN][1000 genomes]
rs3757381	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3778705	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3807155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3807156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3807157	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs3816192	0.82[ASN][1000 genomes]
rs58562866	0.83[ASN][1000 genomes]
rs62485263	0.90[ASN][1000 genomes]
rs62485264	0.91[ASN][1000 genomes]
rs6467776	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6467778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6467780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6467782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467783	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6944764	0.81[ASN][1000 genomes]
rs6948094	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6954285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6959574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963539	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs728092	0.97[ASN][1000 genomes]
rs749546	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7808392	0.83[ASN][1000 genomes]
rs9791462	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9791634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs985299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][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:124 , 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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