Variant report

Variant	rs6972420
Chromosome Location	chr7:126993530-126993531
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126987087..126990445-chr7:126991275..126994232,5	K562	blood:
2	chr7:126983343..126987079-chr7:126991252..126994803,3	K562	blood:
3	chr7:126992195..126994598-chr7:127031831..127034380,2	K562	blood:
4	chr7:126993441..126998972-chr7:127031083..127033725,7	MCF-7	breast:
5	chr7:126992206..126994276-chr7:126998893..127000633,3	K562	blood:

Variant related genes	Relation type
ENSG00000224138	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10487480	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10954149	0.84[ASN][1000 genomes]
rs11563346	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11563460	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11563467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11563624	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11563628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11563629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11563630	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11563634	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11563641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11563648	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11563650	1.00[CHB][hapmap];0.97[ASN][1000 genomes]
rs11563652	0.97[ASN][1000 genomes]
rs12672573	0.84[ASN][1000 genomes]
rs12706780	1.00[ASN][1000 genomes]
rs12706783	0.84[ASN][1000 genomes]
rs12706784	0.84[ASN][1000 genomes]
rs12706785	0.84[ASN][1000 genomes]
rs13228039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13233168	1.00[ASN][1000 genomes]
rs13246300	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1361937	1.00[YRI][hapmap]
rs1361938	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs1361939	1.00[YRI][hapmap]
rs1419395	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1419396	1.00[YRI][hapmap]
rs1419398	0.84[ASN][1000 genomes]
rs1419399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1419414	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17862368	0.84[ASN][1000 genomes]
rs17862369	0.84[ASN][1000 genomes]
rs17863291	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17863295	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17863297	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17864195	0.97[ASN][1000 genomes]
rs17865345	0.90[ASN][1000 genomes]
rs17867824	0.97[ASN][1000 genomes]
rs17867840	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs17867842	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2027954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2040500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269729	0.81[CHB][hapmap]
rs2402860	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3944151	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731350	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467122	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6957320	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6959198	1.00[YRI][hapmap]
rs71578227	0.97[ASN][1000 genomes]
rs7781891	1.00[ASN][1000 genomes]
rs7805194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951808	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987200-126995400	Weak transcription	Dnd41	blood
3	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
4	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:126988400-126993800	Weak transcription	Liver	Liver
6	chr7:126988400-126994600	Weak transcription	K562	blood
7	chr7:126988400-126995200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:126988400-126995200	Weak transcription	HMEC	breast
9	chr7:126988400-126995400	Weak transcription	Primary B cells from cord blood	blood
10	chr7:126988400-126995400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:126988400-126995600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:126988400-126996000	Weak transcription	NHDF-Ad	bronchial
13	chr7:126988400-126996800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:126988400-126997000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:126988400-126997000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:126988400-126997000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:126988400-126997000	Weak transcription	Osteobl	bone
18	chr7:126988400-126998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:126988400-126998800	Weak transcription	Placenta	Placenta
20	chr7:126988400-126999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:126988400-126999200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
27	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
28	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
31	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
42	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
44	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
46	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
47	chr7:126988400-127001000	Weak transcription	Lung	lung
48	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
49	chr7:126988400-127001000	Weak transcription	Thymus	Thymus
50	chr7:126988400-127001000	Weak transcription	NH-A	brain

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