Variant report

Variant	rs72974018
Chromosome Location	chr6:128686182-128686183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128660307..128662449-chr6:128682596..128686708,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428737	0.84[EUR][1000 genomes]
rs17055854	0.84[EUR][1000 genomes]
rs17361665	0.80[AMR][1000 genomes]
rs17430298	0.89[EUR][1000 genomes]
rs17459362	1.00[AFR][1000 genomes]
rs1891146	0.84[EUR][1000 genomes]
rs1891147	0.84[EUR][1000 genomes]
rs1891148	0.82[EUR][1000 genomes]
rs58395468	0.84[EUR][1000 genomes]
rs59893653	0.84[EUR][1000 genomes]
rs66843622	0.84[EUR][1000 genomes]
rs722796	0.84[EUR][1000 genomes]
rs72972098	0.83[EUR][1000 genomes]
rs72974028	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72974031	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72974042	0.91[AMR][1000 genomes]
rs72974046	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72974053	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72974060	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72974074	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7764930	0.92[EUR][1000 genomes]
rs961292	0.91[AMR][1000 genomes];0.84[EUR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128673000-128687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:128675000-128688000	Weak transcription	Gastric	stomach
3	chr6:128678800-128697000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:128679600-128686600	Weak transcription	Right Ventricle	heart
5	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
6	chr6:128679800-128688000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:128679800-128697600	Weak transcription	HSMMtube	muscle
8	chr6:128680000-128686200	Weak transcription	Brain Anterior Caudate	brain
9	chr6:128680000-128688600	Weak transcription	NHDF-Ad	bronchial
10	chr6:128680000-128691400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:128680200-128686600	Weak transcription	Stomach Mucosa	stomach
12	chr6:128680200-128687800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:128680200-128690200	Weak transcription	Brain Angular Gyrus	brain
14	chr6:128680400-128688600	Weak transcription	Psoas Muscle	Psoas
15	chr6:128680400-128689600	Weak transcription	Osteobl	bone
16	chr6:128680600-128686200	Weak transcription	HepG2	liver
17	chr6:128680800-128686200	Weak transcription	Liver	Liver
18	chr6:128681800-128695600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:128683200-128686600	Enhancers	Fetal Intestine Large	intestine
20	chr6:128684600-128689400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:128684600-128689600	Weak transcription	Ovary	ovary
22	chr6:128684600-128696600	Weak transcription	HSMM	muscle
23	chr6:128684800-128687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:128684800-128688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:128684800-128688400	Weak transcription	Small Intestine	intestine
26	chr6:128684800-128688600	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:128684800-128688600	Weak transcription	NHLF	lung
28	chr6:128684800-128696400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:128685000-128689400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:128685200-128687000	Weak transcription	Fetal Intestine Small	intestine
31	chr6:128685800-128687200	Enhancers	Fetal Lung	lung
32	chr6:128685800-128687400	Enhancers	Fetal Heart	heart
33	chr6:128685800-128689400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:128686000-128686200	Enhancers	A549	lung
35	chr6:128686000-128686400	Enhancers	Brain Substantia Nigra	brain
36	chr6:128686000-128686400	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:128686000-128686800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:128686000-128686800	Active TSS	Rectal Mucosa Donor 29	rectum

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