Variant report

Variant	rs2030133
Chromosome Location	chr7:26891104-26891105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26890130..26893318-chr7:26901650..26904246,3	K562	blood:
2	chr7:26888854..26891961-chr7:26894213..26897165,3	K562	blood:
3	chr7:26883012..26887004-chr7:26890867..26893521,3	MCF-7	breast:
4	chr7:26856308..26858205-chr7:26890312..26892173,2	K562	blood:
5	chr7:26890230..26892424-chr7:26897574..26899728,2	K562	blood:

Variant related genes	Relation type
ENSG00000005020	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10215738	0.82[AMR][1000 genomes]
rs10225700	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10225904	0.95[AMR][1000 genomes]
rs10225924	0.82[AMR][1000 genomes]
rs10227231	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10227529	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10227673	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10229837	0.82[AMR][1000 genomes]
rs10236221	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10242572	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10244986	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10248500	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10249931	0.80[AFR][1000 genomes]
rs10251839	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10252275	0.83[AFR][1000 genomes]
rs10256250	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10259983	0.83[AFR][1000 genomes]
rs10262414	0.90[AMR][1000 genomes]
rs10270187	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10272190	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10272301	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10272457	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10272603	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10275896	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10280476	0.83[AFR][1000 genomes]
rs10281933	0.83[AFR][1000 genomes]
rs10486483	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10486484	0.83[AFR][1000 genomes]
rs10486485	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12333525	0.88[AMR][1000 genomes]
rs12532199	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12532395	0.82[AMR][1000 genomes]
rs12532796	0.84[AMR][1000 genomes]
rs12534899	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12534921	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12535784	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12536145	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12536560	0.81[AFR][1000 genomes]
rs12537014	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12537323	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12540045	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12540388	0.83[AMR][1000 genomes]
rs12540508	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13438513	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13438514	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17315334	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17315775	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17315929	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17375272	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17376018	0.90[AMR][1000 genomes]
rs1967332	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1982995	0.88[AMR][1000 genomes]
rs2030134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030136	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2031811	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2391362	0.83[AMR][1000 genomes]
rs28404962	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28550029	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28617235	0.90[AMR][1000 genomes]
rs28806787	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28816386	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28883078	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3213853	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801803	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3801805	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801807	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801808	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801809	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801810	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801812	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801813	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801814	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801815	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801816	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801819	0.84[AMR][1000 genomes]
rs3801820	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801821	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801822	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801823	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801825	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801826	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801827	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801828	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801829	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801830	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801831	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801832	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801833	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801834	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3801836	0.88[AMR][1000 genomes]
rs3801837	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823928	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823929	0.83[AMR][1000 genomes]
rs3823930	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823931	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823932	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823933	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823934	0.84[AMR][1000 genomes]
rs3823936	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3823938	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs3934268	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4719882	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4722643	0.82[AMR][1000 genomes]
rs4722644	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4722647	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55739485	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56154570	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57135974	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57623217	0.87[AMR][1000 genomes]
rs58760954	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59254259	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61354389	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6461979	0.84[AMR][1000 genomes]
rs6461980	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6948584	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6948657	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73067435	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73067437	0.84[AMR][1000 genomes]
rs73067443	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73067456	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73067472	0.84[AMR][1000 genomes]
rs73067475	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73067476	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73067479	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73069507	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73069510	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73069533	0.84[AMR][1000 genomes]
rs73069539	0.83[AMR][1000 genomes]
rs73069540	0.83[AMR][1000 genomes]
rs73069541	0.83[AMR][1000 genomes]
rs7785689	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7785711	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7785798	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7785815	0.95[AMR][1000 genomes]
rs7785832	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7785918	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7789225	0.82[AFR][1000 genomes]
rs7791513	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7802715	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7804356	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7804620	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7805766	0.89[AFR][1000 genomes];0.90[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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26863200-26893200	Weak transcription	A549	lung
2	chr7:26863600-26894600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:26867200-26897000	Weak transcription	Lung	lung
4	chr7:26870400-26894400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:26870600-26896000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:26871000-26902200	Weak transcription	Dnd41	blood
7	chr7:26871600-26896000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:26872400-26896200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:26872600-26894800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:26872800-26892800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26875600-26896000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:26876000-26896000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:26876200-26896200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:26877200-26894400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:26877200-26897000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:26877200-26897000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:26877400-26892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:26877400-26893600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:26878000-26892800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:26878800-26893200	Weak transcription	NHLF	lung
21	chr7:26881200-26892800	Weak transcription	HMEC	breast
22	chr7:26883200-26893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:26883200-26895800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:26883800-26894800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:26883800-26896000	Weak transcription	NHDF-Ad	bronchial
26	chr7:26884200-26893400	Weak transcription	HUVEC	blood vessel
27	chr7:26884800-26893600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr7:26886200-26903400	Weak transcription	Spleen	Spleen
29	chr7:26886600-26893000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:26888400-26892600	Weak transcription	Brain Substantia Nigra	brain
31	chr7:26889600-26891200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:26889800-26893600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:26890200-26892800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:26890200-26892800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:26890200-26893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:26890400-26891800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:26890400-26893600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:26890400-26894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:26890600-26892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:26890800-26892800	Weak transcription	NHEK	skin
41	chr7:26891000-26894200	Weak transcription	Primary B cells from cord blood	blood

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