Variant report

Variant	rs4083280
Chromosome Location	chr7:33147485-33147486
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:32929842..32933813-chr7:33147048..33149516,4	K562	blood:
2	chr7:33100859..33104943-chr7:33146945..33149986,6	MCF-7	breast:
3	chr7:33098744..33100464-chr7:33145455..33148099,2	K562	blood:
4	chr20:49347482..49349251-chr7:33147388..33148972,2	MCF-7	breast:
5	chr7:32929813..32931362-chr7:33146969..33149896,3	K562	blood:
6	chr7:33120839..33123579-chr7:33147074..33148845,2	MCF-7	breast:
7	chr7:32766854..32769389-chr7:33145298..33147835,2	K562	blood:
8	chr7:33101689..33103789-chr7:33147448..33149100,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122643	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000237004	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10245553	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10281469	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760414	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11763923	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766395	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771864	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11773214	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11981778	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12667849	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12672159	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17393789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17393824	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17472290	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17472556	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2021562	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2021883	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2022231	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2392220	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28465403	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28633587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28654432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2893463	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3750121	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3847009	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55862266	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56176900	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66617822	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66962586	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68111021	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6947994	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6948361	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6963955	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964595	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6976971	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6980186	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73093561	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783079	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7800322	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv508450	chr7:33123335-33184848	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1033502	chr7:33124005-33185470	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025361	chr7:33125663-33185470	Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv869720	chr7:33127192-33193580	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1026615	chr7:33128234-33185470	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020741	chr7:33130675-33185470	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027807	chr7:33130675-33190591	Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2761318	chr7:33130687-33185482	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464422	chr7:33131729-33187279	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv606606	chr7:33131729-33187279	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606607	chr7:33131729-33192502	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv464423	chr7:33131729-33192800	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606608	chr7:33131729-33192800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv520406	chr7:33131729-33192837	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv606609	chr7:33131729-33196354	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1030007	chr7:33132814-33185470	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1028637	chr7:33133742-33185470	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33115800-33148000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:33136400-33147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:33139000-33148200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:33142600-33147800	Weak transcription	Colonic Mucosa	Colon
5	chr7:33143400-33147800	Weak transcription	Aorta	Aorta
6	chr7:33143400-33148200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:33143400-33148200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:33143400-33148200	Weak transcription	Esophagus	oesophagus
9	chr7:33143400-33148200	Weak transcription	Gastric	stomach
10	chr7:33145000-33147600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:33145600-33147600	Enhancers	Liver	Liver
12	chr7:33145800-33147600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:33145800-33148000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:33146000-33147600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:33146200-33147600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:33146400-33147600	Enhancers	Brain Angular Gyrus	brain
17	chr7:33146400-33147600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:33146600-33147600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:33146600-33147600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:33146600-33147600	Enhancers	Brain Substantia Nigra	brain
21	chr7:33146600-33147600	Enhancers	Thymus	Thymus
22	chr7:33146600-33147800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:33146600-33148000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:33146800-33147600	Enhancers	Fetal Intestine Large	intestine
25	chr7:33146800-33147600	Enhancers	Fetal Thymus	thymus
26	chr7:33146800-33147600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:33146800-33147800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:33146800-33147800	Enhancers	Stomach Mucosa	stomach
29	chr7:33146800-33147800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr7:33146800-33148000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:33146800-33148000	Flanking Active TSS	GM12878-XiMat	blood
32	chr7:33146800-33148000	Flanking Active TSS	HepG2	liver
33	chr7:33146800-33148200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:33146800-33148200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:33146800-33148200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:33146800-33148200	Flanking Active TSS	Dnd41	blood
37	chr7:33146800-33148400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:33146800-33148400	Enhancers	Spleen	Spleen
39	chr7:33147000-33147600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr7:33147000-33147600	Enhancers	Fetal Intestine Small	intestine
41	chr7:33147000-33147600	Enhancers	Fetal Muscle Leg	muscle
42	chr7:33147000-33147600	Enhancers	Psoas Muscle	Psoas
43	chr7:33147000-33147800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:33147000-33147800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:33147000-33147800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:33147000-33147800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:33147000-33147800	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr7:33147000-33148000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:33147000-33148000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:33147000-33148000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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