Variant report

Variant	rs72974006
Chromosome Location	chr6:128668459-128668460
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	chr6:128666022..128668619-chr6:128842327..128844085,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1339189	0.84[EUR][1000 genomes]
rs1416517	0.82[EUR][1000 genomes]
rs17055689	0.84[EUR][1000 genomes]
rs17055706	0.84[EUR][1000 genomes]
rs17055717	0.82[EUR][1000 genomes]
rs17055727	0.82[EUR][1000 genomes]
rs17055733	0.84[EUR][1000 genomes]
rs17353545	0.82[EUR][1000 genomes]
rs17430452	0.91[AFR][1000 genomes]
rs17456385	0.84[AFR][1000 genomes]
rs17456601	0.84[AFR][1000 genomes]
rs56095177	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6420738	0.84[EUR][1000 genomes]
rs72967026	0.91[AFR][1000 genomes]
rs72967039	0.84[AFR][1000 genomes]
rs72967046	0.91[AFR][1000 genomes]
rs72967058	0.84[AFR][1000 genomes]
rs72969051	0.84[EUR][1000 genomes]
rs72969061	0.84[AFR][1000 genomes]
rs72969088	0.84[EUR][1000 genomes]
rs72969090	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72969093	0.84[EUR][1000 genomes]
rs72971104	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72972078	0.84[EUR][1000 genomes]
rs72972090	0.82[EUR][1000 genomes]
rs72972091	0.84[EUR][1000 genomes]
rs72974007	1.00[ASN][1000 genomes]
rs72974013	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7773248	0.82[EUR][1000 genomes]
rs9372888	1.00[ASN][1000 genomes]
rs9375562	1.00[ASN][1000 genomes]
rs9402035	0.82[EUR][1000 genomes];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	chr6:128659800-128671400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:128661400-128671800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:128661400-128677200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:128661600-128679400	Weak transcription	Osteobl	bone
8	chr6:128661800-128671200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:128663000-128670000	Weak transcription	Liver	Liver
10	chr6:128664800-128668800	Enhancers	Fetal Heart	heart
11	chr6:128665200-128671400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:128665400-128669800	Weak transcription	Stomach Mucosa	stomach
13	chr6:128665400-128670800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:128665800-128668600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:128665800-128670200	Weak transcription	HepG2	liver
16	chr6:128666000-128678600	Weak transcription	Left Ventricle	heart
17	chr6:128666000-128679400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:128666200-128668600	Enhancers	Fetal Lung	lung
19	chr6:128667000-128671000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:128667600-128668600	Enhancers	Brain Angular Gyrus	brain
21	chr6:128667800-128668600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:128667800-128668600	Enhancers	Brain Anterior Caudate	brain
23	chr6:128667800-128668600	Enhancers	Brain Hippocampus Middle	brain
24	chr6:128667800-128668600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:128667800-128668600	Enhancers	Fetal Intestine Large	intestine
26	chr6:128667800-128668600	Enhancers	Fetal Kidney	kidney
27	chr6:128667800-128668800	Enhancers	Fetal Stomach	stomach
28	chr6:128668000-128668600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:128668000-128671600	Weak transcription	HMEC	breast
30	chr6:128668200-128670000	Weak transcription	Brain Substantia Nigra	brain
31	chr6:128668200-128670000	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:128668400-128668600	Enhancers	Duodenum Mucosa	Duodenum
33	chr6:128668400-128668600	Enhancers	Ovary	ovary
34	chr6:128668400-128668600	Enhancers	Small Intestine	intestine
35	chr6:128668400-128677200	Weak transcription	Brain Inferior Temporal Lobe	brain

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