Variant report

Variant	rs570270031
Chromosome Location	chr6:128842951-128842952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:128840737-128842988	MCF10A-Er-Src	breast:	n/a	n/a
2	PBX3	chr6:128841323-128842978	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:128529927..128532522-chr6:128841893..128843396,2	MCF-7	breast:
2	chr6:128669634..128671989-chr6:128842689..128844220,2	MCF-7	breast:
3	chr6:128666022..128668619-chr6:128842327..128844085,2	MCF-7	breast:
4	chr16:75143191..75144858-chr6:128840309..128843134,2	MCF-7	breast:
5	chr6:128819294..128822394-chr6:128840492..128843286,6	MCF-7	breast:
6	chr6:128817983..128822479-chr6:128839649..128843314,6	MCF-7	breast:

No data

Variant related genes	Relation type
PTPRK	TF binding region
ENSG00000224733	Chromatin interaction
ENSG00000247033	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2758078	chr6:128842192-128844831	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv2759468	chr6:128842192-128844831	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 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	chr6:128838400-128843000	Active TSS	Fetal Brain Male	brain
2	chr6:128841000-128843000	Active TSS	Fetal Brain Female	brain
3	chr6:128841400-128843000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:128842200-128843000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:128842200-128843000	Flanking Active TSS	HMEC	breast
6	chr6:128842400-128843000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:128842400-128843000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:128842400-128846200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:128842600-128843000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:128842600-128843000	Flanking Active TSS	NHDF-Ad	bronchial
11	chr6:128842600-128843200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:128842600-128845400	Weak transcription	Pancreas	Pancrea
13	chr6:128842600-128848800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:128842800-128843000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:128842800-128843000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:128842800-128843000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:128842800-128843000	Flanking Active TSS	HSMMtube	muscle
18	chr6:128842800-128843200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:128842800-128843200	Enhancers	NHEK	skin
20	chr6:128842800-128843200	Enhancers	NHLF	lung
21	chr6:128842800-128843200	Enhancers	Osteobl	bone
22	chr6:128842800-128843400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:128842800-128843400	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:128842800-128843400	Enhancers	HSMM	muscle
25	chr6:128842800-128843400	Enhancers	NH-A	brain
26	chr6:128842800-128843800	Enhancers	HepG2	liver
27	chr6:128842800-128844000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:128842800-128844600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:128842800-128845600	Weak transcription	Fetal Heart	heart
30	chr6:128842800-128845800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:128842800-128846200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:128842800-128846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:128842800-128846400	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:128842800-128846400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:128842800-128846400	Weak transcription	Brain Substantia Nigra	brain
36	chr6:128842800-128846600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:128842800-128847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:128842800-128853800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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