Variant report

Variant	rs17155042
Chromosome Location	chr7:107773324-107773325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:107773264-107773389	NHEK	skin:	n/a	n/a
2	CTCF	chr7:107773240-107773390	WERI-Rb-1	eye:	n/a	n/a
3	FOS	chr7:107773101-107773327	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:107773286-107773326	Gliobla	brain:	n/a	n/a
5	FOS	chr7:107773032-107773387	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:107773032-107773381	MCF10A-Er-Src	breast:	n/a	n/a
7	REST	chr7:107773046-107773531	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107766187..107769615-chr7:107773231..107776675,3	K562	blood:
2	chr7:107760912..107763521-chr7:107772697..107774979,2	K562	blood:
3	chr7:107773164..107775001-chr7:108096044..108098036,2	MCF-7	breast:

Variant related genes	Relation type
LAMB4	TF binding region
ENSG00000091129	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10487838	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10487840	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12666092	0.91[EUR][1000 genomes]
rs2074748	1.00[CEU][hapmap]
rs2108234	1.00[CEU][hapmap]
rs6466216	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6952769	1.00[EUR][1000 genomes]
rs73197625	1.00[EUR][1000 genomes]
rs73197627	0.95[EUR][1000 genomes]
rs73197628	1.00[EUR][1000 genomes]
rs9691506	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107772000-107773800	Flanking Active TSS	NHEK	skin
2	chr7:107772200-107773800	Enhancers	HMEC	breast
3	chr7:107772400-107773600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:107772800-107773400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:107772800-107773600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:107772800-107773600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:107772800-107773600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:107772800-107773600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:107772800-107773800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:107772800-107775800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:107773000-107773400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:107773000-107773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:107773000-107773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:107773000-107773600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:107773000-107773600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:107773000-107773600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:107773000-107773600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:107773000-107773600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:107773000-107773600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:107773000-107773600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:107773000-107773600	Enhancers	Esophagus	oesophagus
22	chr7:107773000-107773800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:107773000-107773800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:107773000-107773800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:107773000-107773800	Enhancers	NH-A	brain
26	chr7:107773000-107774200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:107773000-107774200	Enhancers	Placenta	Placenta
28	chr7:107773200-107773600	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:107773200-107775800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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