Variant report

Variant	rs12703828
Chromosome Location	chr7:140098104-140098105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140097102..140100754-chr7:140100879..140105218,4	MCF-7	breast:
2	chr13:52026703..52027221-chr7:140097973..140098689,2	HCT-116	colon:
3	chr7:140096834..140099391-chr7:140178947..140180902,2	K562	blood:
4	chr7:140091825..140093719-chr7:140095231..140098227,2	MCF-7	breast:
5	chr7:139875282..139878278-chr7:140096376..140098840,2	MCF-7	breast:
6	chr7:140075069..140077735-chr7:140096588..140099526,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146955	Chromatin interaction
ENSG00000157800	Chromatin interaction
ENSG00000006459	Chromatin interaction
ENSG00000133606	Chromatin interaction
ENSG00000260231	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000238868	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10251020	0.94[EUR][1000 genomes]
rs10261444	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10273430	0.87[EUR][1000 genomes]
rs13229539	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13235719	0.90[EUR][1000 genomes]
rs13236204	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13246775	0.90[EUR][1000 genomes]
rs62490400	0.90[EUR][1000 genomes]
rs67151693	0.87[EUR][1000 genomes]
rs6970119	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6978505	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9640466	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140096000-140098800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:140096200-140098400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:140096400-140098600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:140096600-140098600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:140096600-140098600	Active TSS	K562	blood
6	chr7:140096800-140098600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:140096800-140098600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:140096800-140098800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:140097000-140098400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:140097000-140098600	Active TSS	Colonic Mucosa	Colon
11	chr7:140097000-140098600	Active TSS	Fetal Brain Female	brain
12	chr7:140097200-140098400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:140097200-140098400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:140097200-140098400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:140097200-140098400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:140097200-140098400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:140097200-140098400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:140097200-140098400	Active TSS	Colon Smooth Muscle	Colon
19	chr7:140097200-140098400	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:140097200-140098400	Active TSS	HMEC	breast
21	chr7:140097200-140098600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:140097200-140098600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:140097200-140098600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:140097200-140098600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:140097200-140098600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:140097200-140098600	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:140097200-140098600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:140097200-140098600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:140097200-140098600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:140097200-140098600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:140097200-140098600	Active TSS	Fetal Stomach	stomach
32	chr7:140097200-140098600	Active TSS	Pancreas	Pancrea
33	chr7:140097200-140098600	Active TSS	Psoas Muscle	Psoas
34	chr7:140097200-140098600	Active TSS	A549	lung
35	chr7:140097200-140098600	Active TSS	HSMM	muscle
36	chr7:140097200-140098600	Active TSS	HSMMtube	muscle
37	chr7:140097200-140098600	Active TSS	NH-A	brain
38	chr7:140097200-140098600	Active TSS	NHDF-Ad	bronchial
39	chr7:140097200-140098600	Active TSS	NHLF	lung
40	chr7:140097200-140098800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:140097400-140098200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr7:140097400-140098400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:140097400-140098400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:140097400-140098400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr7:140097400-140098400	Active TSS	Fetal Muscle Leg	muscle
46	chr7:140097400-140098400	Active TSS	Fetal Thymus	thymus
47	chr7:140097400-140098600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr7:140097400-140098600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr7:140097400-140098600	Active TSS	Aorta	Aorta
50	chr7:140097400-140098600	Active TSS	Brain Anterior Caudate	brain

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