Variant report

Variant	rs4273
Chromosome Location	chr7:26230289-26230290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26229188..26231579-chr7:26391881..26395194,3	MCF-7	breast:
2	chr6:43738168..43740945-chr7:26227886..26230341,2	K562	blood:
3	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
4	chr7:26224902..26232884-chr7:26322008..26332976,29	K562	blood:
5	chr7:25989447..25992396-chr7:26228755..26230988,2	K562	blood:
6	chr7:26228171..26230631-chr7:26384703..26386781,2	K562	blood:
7	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
8	chr7:25930064..25934864-chr7:26225414..26230890,12	K562	blood:
9	chr1:36234691..36235624-chr7:26229811..26230661,2	Hela-S3	cervix:
10	chr7:26190297..26193509-chr7:26229457..26232588,3	MCF-7	breast:
11	chr11:62621842..62623450-chr7:26228095..26230381,2	K562	blood:
12	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
13	chr7:26224710..26231544-chr7:26402048..26407320,8	K562	blood:
14	chr7:26212218..26214993-chr7:26226282..26231933,7	K562	blood:
15	chr16:88526781..88529683-chr7:26228121..26230493,2	K562	blood:
16	chr6:32950124..32953001-chr7:26228002..26230993,2	K562	blood:
17	chr7:26224902..26232884-chr7:26322942..26334107,28	K562	blood:
18	chr1:46597949..46598506-chr7:26229925..26230537,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000272114	Chromatin interaction
ENSG00000086300	Chromatin interaction
ENSG00000199085	Chromatin interaction
ENSG00000092853	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000117461	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000273237	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10499573	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10951126	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10951127	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11978377	0.94[EUR][1000 genomes]
rs11979154	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12533620	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12537093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12538280	1.00[MEX][hapmap]
rs12539124	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1864241	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2070601	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237330	0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237332	0.94[EUR][1000 genomes]
rs2237333	1.00[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237334	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41374744	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58438239	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58914793	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6960012	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9638832	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9639531	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26217400-26234800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:26218200-26236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26218800-26231800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:26219000-26233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:26220600-26234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:26222200-26233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:26222600-26232000	Weak transcription	Right Atrium	heart
8	chr7:26223200-26233200	Strong transcription	Fetal Thymus	thymus
9	chr7:26223800-26231800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:26223800-26232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:26223800-26232400	Genic enhancers	A549	lung
12	chr7:26223800-26233200	Strong transcription	HMEC	breast
13	chr7:26224000-26235000	Strong transcription	NH-A	brain
14	chr7:26224200-26232600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:26224200-26232800	Weak transcription	Fetal Stomach	stomach
16	chr7:26224200-26235000	Strong transcription	NHEK	skin
17	chr7:26224400-26232000	Strong transcription	Brain Anterior Caudate	brain
18	chr7:26224400-26234400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr7:26224600-26231200	Strong transcription	HUVEC	blood vessel
20	chr7:26224800-26231600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:26224800-26236000	Strong transcription	HSMM	muscle
22	chr7:26224800-26236800	Strong transcription	HSMMtube	muscle
23	chr7:26225800-26234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:26226000-26231600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:26226000-26231600	Strong transcription	Brain Germinal Matrix	brain
26	chr7:26226000-26231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:26226000-26232000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr7:26226000-26232200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:26226000-26233200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:26226000-26233400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:26226000-26234800	Strong transcription	Thymus	Thymus
32	chr7:26226000-26235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:26226200-26231600	Strong transcription	Brain Cingulate Gyrus	brain
34	chr7:26226200-26232400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:26226200-26232400	Weak transcription	Stomach Mucosa	stomach
36	chr7:26226400-26236200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:26226800-26231800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:26227000-26230600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:26227000-26230800	Strong transcription	Lung	lung
40	chr7:26227000-26231200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:26227000-26231800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr7:26227000-26232200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:26227000-26232400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:26227000-26233000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:26227000-26234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:26227000-26234200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr7:26227000-26234800	Strong transcription	NHLF	lung
48	chr7:26227000-26235600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:26227200-26232000	Strong transcription	Brain Angular Gyrus	brain
50	chr7:26227200-26232200	Strong transcription	Brain Hippocampus Middle	brain

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