Variant report

Variant	rs6956741
Chromosome Location	chr7:112094743-112094744
allele	A/G
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	POLR2A	chr7:112094631-112094831	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:112048216..112051136-chr7:112094029..112095591,2	K562	blood:
2	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
3	chr7:111806034..111807822-chr7:112092535..112095230,2	K562	blood:
4	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:

Variant related genes	Relation type
IFRD1	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000226851	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1024568	0.80[AMR][1000 genomes]
rs1024571	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10487291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531160	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12531636	0.80[AMR][1000 genomes]
rs12532656	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16873394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17132179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041066	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2041067	0.95[ASN][1000 genomes]
rs2396542	0.80[AMR][1000 genomes]
rs4730548	0.84[AMR][1000 genomes]
rs4730549	0.84[AMR][1000 genomes]
rs6978173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73201473	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73201481	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Amyotrophic lateral sclerosis (age of onset)	22959728	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
2	chr7:112092600-112095400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:112092600-112095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:112092600-112095800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:112092600-112095800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:112092600-112095800	Weak transcription	Placenta	Placenta
7	chr7:112092600-112098800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:112092600-112099000	Weak transcription	Spleen	Spleen
9	chr7:112092600-112099800	Weak transcription	Esophagus	oesophagus
10	chr7:112092600-112099800	Weak transcription	Gastric	stomach
11	chr7:112092600-112102400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:112092600-112109800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:112092600-112121800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:112092800-112094800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:112092800-112095000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:112092800-112095800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:112092800-112097000	Weak transcription	Colonic Mucosa	Colon
18	chr7:112093000-112094800	Enhancers	Colon Smooth Muscle	Colon
19	chr7:112093000-112094800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:112093000-112094800	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:112093000-112095600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:112093000-112095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:112093000-112095800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:112093000-112095800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:112093000-112095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:112093000-112095800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:112093000-112095800	Weak transcription	Fetal Kidney	kidney
28	chr7:112093000-112095800	Weak transcription	Fetal Thymus	thymus
29	chr7:112093000-112095800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:112093000-112098800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:112093000-112099800	Weak transcription	Thymus	Thymus
32	chr7:112093000-112109600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:112093200-112095800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:112093200-112096000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:112093200-112097200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:112093400-112096400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:112093400-112096800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:112093600-112095600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:112093600-112095600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:112093600-112095800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:112093600-112095800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:112093600-112095800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:112093600-112096200	Weak transcription	Brain Germinal Matrix	brain
44	chr7:112093800-112094800	Active TSS	Aorta	Aorta
45	chr7:112093800-112094800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr7:112093800-112095400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:112093800-112095600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:112093800-112095600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:112093800-112095600	Enhancers	Ovary	ovary
50	chr7:112093800-112095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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