Variant report

Variant	rs72974007
Chromosome Location	chr6:128671487-128671488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128668869..128672151-chr6:128674907..128677804,3	MCF-7	breast:
2	chr6:128670739..128672658-chr6:128673708..128675323,2	MCF-7	breast:
3	chr6:128669634..128671989-chr6:128842689..128844220,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1339191	0.89[EUR][1000 genomes]
rs56095177	1.00[ASN][1000 genomes]
rs72974006	1.00[ASN][1000 genomes]
rs72974013	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321115	0.85[EUR][1000 genomes]
rs9372888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375562	1.00[ASN][1000 genomes]
rs9402035	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128635600-128672000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:128649400-128671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:128649400-128678600	Weak transcription	HSMM	muscle
4	chr6:128661400-128671800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:128661400-128677200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:128661600-128679400	Weak transcription	Osteobl	bone
7	chr6:128666000-128678600	Weak transcription	Left Ventricle	heart
8	chr6:128666000-128679400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:128668000-128671600	Weak transcription	HMEC	breast
10	chr6:128668400-128677200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:128668600-128673600	Weak transcription	Fetal Lung	lung
12	chr6:128668600-128677200	Weak transcription	Small Intestine	intestine
13	chr6:128668600-128684200	Weak transcription	Fetal Kidney	kidney
14	chr6:128668800-128673600	Weak transcription	Fetal Heart	heart
15	chr6:128670000-128672400	Enhancers	Colon Smooth Muscle	Colon
16	chr6:128670200-128673200	Enhancers	HepG2	liver
17	chr6:128670400-128677400	Weak transcription	HSMMtube	muscle
18	chr6:128670400-128678600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:128670400-128678600	Weak transcription	Brain Substantia Nigra	brain
20	chr6:128670600-128674000	Enhancers	Fetal Intestine Large	intestine
21	chr6:128670600-128678000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:128670800-128673000	Enhancers	Liver	Liver
23	chr6:128670800-128674000	Enhancers	Fetal Intestine Small	intestine
24	chr6:128670800-128674000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:128671000-128671800	Enhancers	Ovary	ovary
26	chr6:128671000-128671800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:128671000-128672200	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:128671000-128673200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr6:128671200-128671800	Enhancers	Right Ventricle	heart
30	chr6:128671200-128672200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr6:128671400-128671800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:128671400-128671800	Weak transcription	Stomach Mucosa	stomach
33	chr6:128671400-128672400	Enhancers	Fetal Stomach	stomach
34	chr6:128671400-128672400	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:128671400-128673200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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