Variant report

Variant	rs72974046
Chromosome Location	chr6:128725128-128725129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:128723942..128726206-chr6:128727564..128731727,3	MCF-7	breast:
2	chr6:128720265..128722687-chr6:128723810..128725904,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10428737	1.00[EUR][1000 genomes]
rs17055854	1.00[EUR][1000 genomes]
rs17361665	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17459362	0.95[EUR][1000 genomes]
rs1891146	1.00[EUR][1000 genomes]
rs1891147	1.00[EUR][1000 genomes]
rs1891148	0.97[EUR][1000 genomes]
rs58395468	1.00[EUR][1000 genomes]
rs59893653	0.89[EUR][1000 genomes]
rs66843622	1.00[EUR][1000 genomes]
rs6939023	0.95[EUR][1000 genomes]
rs722796	1.00[EUR][1000 genomes]
rs72972098	0.82[AMR][1000 genomes]
rs72974018	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72974028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72974031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72974039	1.00[AFR][1000 genomes]
rs72974041	1.00[AFR][1000 genomes]
rs72974042	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72974053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974081	0.81[EUR][1000 genomes]
rs961292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
2	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
3	chr6:128691600-128730400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:128697800-128733400	Weak transcription	HSMM	muscle
5	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:128701800-128725400	Weak transcription	Ovary	ovary
7	chr6:128703200-128743000	Weak transcription	Pancreas	Pancrea
8	chr6:128706800-128731800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:128710200-128729800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:128710200-128739800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:128711200-128726800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:128712000-128731800	Weak transcription	HUVEC	blood vessel
13	chr6:128712000-128733800	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:128712800-128733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:128714000-128727600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:128714800-128728000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:128715600-128726800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:128715600-128733600	Weak transcription	Brain Anterior Caudate	brain
19	chr6:128715600-128743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:128715800-128725400	Weak transcription	Fetal Lung	lung
21	chr6:128715800-128736200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:128716600-128736000	Weak transcription	Brain Substantia Nigra	brain
23	chr6:128716600-128739400	Weak transcription	Aorta	Aorta
24	chr6:128716800-128727600	Weak transcription	Liver	Liver
25	chr6:128716800-128738400	Weak transcription	Fetal Heart	heart
26	chr6:128717000-128727600	Weak transcription	Fetal Kidney	kidney
27	chr6:128717200-128739600	Weak transcription	NH-A	brain
28	chr6:128718400-128727600	Weak transcription	HepG2	liver
29	chr6:128718400-128727800	Weak transcription	Fetal Intestine Small	intestine
30	chr6:128718800-128727600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:128720400-128727600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:128720600-128725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:128721000-128727800	Weak transcription	HSMMtube	muscle
34	chr6:128721800-128733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:128722000-128738600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:128722400-128732000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:128722400-128740000	Weak transcription	Right Ventricle	heart
38	chr6:128724000-128725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:128724000-128726200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:128724000-128726400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:128724000-128726600	Enhancers	NHEK	skin
42	chr6:128724200-128733600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:128725000-128725400	Enhancers	HMEC	breast
44	chr6:128725000-128728200	Weak transcription	NHDF-Ad	bronchial

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