Variant report

Variant	rs142752
Chromosome Location	chr7:105518327-105518328
allele	C/T
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	chr7:105516529-105518431	A549	lung:	n/a	chr7:105517183-105517191 chr7:105517161-105517170 chr7:105517161-105517174
2	ZNF263	chr7:105516539-105518531	HEK293-T-REx	kidney:	n/a	chr7:105516799-105516808 chr7:105516796-105516805
3	CTCF	chr7:105516497-105518709	SK-N-SH	brain:	n/a	chr7:105517183-105517191 chr7:105517161-105517170 chr7:105517161-105517174
4	BCL3	chr7:105518226-105518460	GM12878	blood:	n/a	n/a
5	SIN3A	chr7:105516733-105518849	H1-hESC	embryonic stem cell:	n/a	n/a
6	HNF4A	chr7:105516773-105518403	HepG2	liver:	n/a	chr7:105517833-105517847 chr7:105517833-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517834-105517846 chr7:105517832-105517847 chr7:105517832-105517847 chr7:105517831-105517849 chr7:105517832-105517847
7	POLR2A	chr7:105516551-105518401	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105516810..105518543-chr7:105750750..105753587,2	K562	blood:
2	chr7:105171193..105173393-chr7:105516904..105519168,2	K562	blood:

Variant related genes	Relation type
ATXN7L1	TF binding region
ENSG00000135249	Chromatin interaction
ENSG00000008282	Chromatin interaction

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

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

rs_ID	r²[population]
rs212427	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212429	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[LWK][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212430	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212434	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[LWK][hapmap];0.93[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212440	0.85[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212441	0.82[CEU][hapmap]
rs212442	0.82[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212443	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212444	0.85[CEU][hapmap]
rs575979	1.00[ASN][1000 genomes]
rs594181	1.00[ASN][1000 genomes]
rs6977858	0.85[YRI][hapmap]

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	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105515600-105519600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:105515800-105518600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:105515800-105518800	Active TSS	Brain Angular Gyrus	brain
4	chr7:105516000-105518400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:105516000-105518400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:105516000-105518400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:105516000-105518400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:105516000-105518600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:105516000-105518600	Active TSS	Colonic Mucosa	Colon
10	chr7:105516000-105518600	Active TSS	Fetal Kidney	kidney
11	chr7:105516000-105518600	Active TSS	NHDF-Ad	bronchial
12	chr7:105516000-105518800	Active TSS	Colon Smooth Muscle	Colon
13	chr7:105516000-105518800	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:105516000-105519000	Active TSS	NHLF	lung
15	chr7:105516000-105519200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:105516000-105519400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:105516000-105519600	Active TSS	Rectal Smooth Muscle	rectum
18	chr7:105516200-105518400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:105516200-105518400	Active TSS	Psoas Muscle	Psoas
20	chr7:105516200-105518800	Active TSS	Stomach Mucosa	stomach
21	chr7:105516200-105518800	Active TSS	Osteobl	bone
22	chr7:105516400-105518400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:105516400-105518400	Active TSS	Fetal Heart	heart
24	chr7:105516400-105518600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:105516400-105518800	Active TSS	Brain Hippocampus Middle	brain
26	chr7:105516600-105518400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr7:105516600-105518400	Bivalent/Poised TSS	HepG2	liver
28	chr7:105516600-105518800	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:105517200-105518600	Enhancers	Spleen	Spleen
30	chr7:105517200-105518800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:105517400-105518400	Flanking Active TSS	HUVEC	blood vessel
32	chr7:105517400-105518600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:105517400-105518800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr7:105517400-105519000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr7:105517400-105519000	Flanking Active TSS	Liver	Liver
36	chr7:105517600-105518400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr7:105517600-105518400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:105517600-105518800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:105517600-105518800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:105517600-105519000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:105517600-105519000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr7:105517600-105519000	Flanking Active TSS	Fetal Brain Male	brain
43	chr7:105517600-105519200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr7:105517800-105518400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:105517800-105518400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr7:105517800-105518400	Bivalent/Poised TSS	Thymus	Thymus
47	chr7:105517800-105518400	Flanking Active TSS	HMEC	breast
48	chr7:105517800-105518600	Flanking Active TSS	NHEK	skin
49	chr7:105517800-105519000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:105517800-105519000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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