Variant report

Variant	rs1341598
Chromosome Location	chr6:128794068-128794069
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	chr6:128785920..128790312-chr6:128790830..128794424,5	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10872330	1.00[MEX][hapmap]
rs13196432	0.81[EUR][1000 genomes]
rs1341597	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1341599	0.84[AFR][1000 genomes]
rs1891150	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28360647	0.92[EUR][1000 genomes]
rs28705340	0.92[EUR][1000 genomes]
rs34478800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34931647	0.95[EUR][1000 genomes]
rs6917187	1.00[GIH][hapmap]
rs6937769	0.88[EUR][1000 genomes]
rs8180639	1.00[MEX][hapmap]
rs9482890	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs9491951	1.00[TSI][hapmap]
rs9491958	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9491975	0.87[CEU][hapmap];0.95[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128773400-128795200	Weak transcription	HSMMtube	muscle
2	chr6:128780400-128795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:128785600-128794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:128785600-128795200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:128785600-128795400	Weak transcription	A549	lung
6	chr6:128786800-128795600	Weak transcription	HSMM	muscle
7	chr6:128787200-128794800	Weak transcription	Right Ventricle	heart
8	chr6:128787200-128795800	Weak transcription	Left Ventricle	heart
9	chr6:128787200-128795800	Weak transcription	Pancreas	Pancrea
10	chr6:128787600-128794800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:128787600-128794800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:128787600-128795200	Weak transcription	NHEK	skin
13	chr6:128787600-128799200	Weak transcription	HepG2	liver
14	chr6:128788000-128799000	Weak transcription	Liver	Liver
15	chr6:128788400-128795400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:128788800-128795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:128790600-128796400	Weak transcription	Stomach Mucosa	stomach
18	chr6:128791200-128795600	Weak transcription	Fetal Heart	heart
19	chr6:128791200-128796000	Weak transcription	Gastric	stomach
20	chr6:128791200-128800000	Weak transcription	Aorta	Aorta
21	chr6:128792400-128794200	Enhancers	Brain Substantia Nigra	brain
22	chr6:128792800-128794400	Enhancers	Brain Angular Gyrus	brain
23	chr6:128792800-128796000	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:128793000-128799400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:128793400-128795200	Weak transcription	Brain Anterior Caudate	brain
26	chr6:128793400-128795800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:128793400-128795800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:128793400-128796600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:128793400-128799000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:128793400-128799400	Weak transcription	Fetal Intestine Small	intestine
31	chr6:128793400-128803800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:128793600-128794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:128793600-128794800	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:128793600-128795800	Weak transcription	Fetal Intestine Large	intestine
35	chr6:128793600-128795800	Weak transcription	Small Intestine	intestine
36	chr6:128793600-128799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr6:128793800-128795200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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