Variant report

Variant	rs113057954
Chromosome Location	chr6:128827218-128827219
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	chr6:128817873..128822661-chr6:128826854..128830658,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LAMA2-2	chr6:128827139-128827421	ENSG00000227112.1

Variant related genes	Relation type
ENSG00000224733	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	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
4	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
5	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
6	esv3503365	chr6:128826884-128830707	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128808800-128830800	Weak transcription	Lung	lung
2	chr6:128813000-128828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:128815200-128833800	Enhancers	Fetal Intestine Large	intestine
4	chr6:128817200-128828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:128817200-128839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:128817200-128839800	Weak transcription	Aorta	Aorta
7	chr6:128819600-128827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:128819800-128828600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:128819800-128828600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:128820600-128833800	Enhancers	Fetal Intestine Small	intestine
11	chr6:128820800-128828400	Weak transcription	HSMMtube	muscle
12	chr6:128820800-128828600	Weak transcription	HSMM	muscle
13	chr6:128821600-128836800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:128822000-128828600	Weak transcription	Colonic Mucosa	Colon
15	chr6:128822200-128828600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:128822200-128828600	Weak transcription	Gastric	stomach
17	chr6:128822400-128828600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:128823400-128832800	Enhancers	Stomach Mucosa	stomach
19	chr6:128824400-128828600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:128824800-128829400	Enhancers	Fetal Heart	heart
21	chr6:128825000-128827800	Enhancers	Brain Anterior Caudate	brain
22	chr6:128825000-128829400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:128825200-128827400	Enhancers	Colon Smooth Muscle	Colon
24	chr6:128825400-128828600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:128825600-128827400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:128825600-128827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:128825600-128827400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:128825600-128827800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:128825600-128828600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:128825800-128828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:128825800-128828600	Weak transcription	Small Intestine	intestine
32	chr6:128825800-128829800	Enhancers	Brain Hippocampus Middle	brain
33	chr6:128825800-128831200	Weak transcription	Psoas Muscle	Psoas
34	chr6:128825800-128832400	Weak transcription	Fetal Kidney	kidney
35	chr6:128825800-128840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:128826000-128828200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:128826000-128828200	Weak transcription	NHEK	skin
38	chr6:128826000-128828600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:128826000-128828600	Weak transcription	Ovary	ovary
40	chr6:128826000-128828600	Weak transcription	Pancreas	Pancrea
41	chr6:128826000-128828600	Weak transcription	NH-A	brain
42	chr6:128826000-128830800	Weak transcription	Right Ventricle	heart
43	chr6:128826200-128828000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:128826200-128828200	Weak transcription	Osteobl	bone
45	chr6:128826200-128828600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:128826200-128828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:128826400-128828600	Weak transcription	Right Atrium	heart
48	chr6:128826600-128827400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:128826600-128827400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:128826600-128827400	Flanking Active TSS	HepG2	liver

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