Variant report

Variant	rs73419474
Chromosome Location	chr7:107219048-107219049
allele	C/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	chr7:107217246-107219194	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107213853..107217373-chr7:107218524..107221215,3	MCF-7	breast:
2	chr7:107217896..107220327-chr7:107230749..107233024,2	MCF-7	breast:
3	chr7:107202748..107209925-chr7:107217558..107222659,11	MCF-7	breast:
4	chr7:107202021..107207492-chr7:107217594..107222531,11	MCF-7	breast:

Variant related genes	Relation type
BCAP29	TF binding region
ENSG00000105865	Chromatin interaction
ENSG00000164597	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2237675	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299427	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299430	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419470	0.80[AFR][1000 genomes]
rs73419490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv888940	chr7:107210383-107229618	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107205000-107219600	Weak transcription	Pancreas	Pancrea
2	chr7:107205000-107220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:107205000-107220000	Weak transcription	Gastric	stomach
4	chr7:107205000-107220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:107205000-107220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:107205200-107219600	Weak transcription	Esophagus	oesophagus
7	chr7:107205200-107219600	Weak transcription	Right Ventricle	heart
8	chr7:107205200-107220000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:107205200-107220000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:107205200-107220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:107205200-107220000	Weak transcription	Lung	lung
12	chr7:107205200-107220000	Weak transcription	Psoas Muscle	Psoas
13	chr7:107205400-107219800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:107205400-107220000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:107205400-107220000	Weak transcription	Colonic Mucosa	Colon
16	chr7:107205400-107220000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:107205600-107219600	Weak transcription	Aorta	Aorta
18	chr7:107205600-107219600	Weak transcription	Fetal Stomach	stomach
19	chr7:107205600-107219600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:107205600-107219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:107205600-107220000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:107205600-107220000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:107205600-107220000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:107205600-107220000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:107205600-107220000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:107205600-107220000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:107205600-107220000	Weak transcription	Brain Substantia Nigra	brain
28	chr7:107205600-107220000	Weak transcription	Fetal Kidney	kidney
29	chr7:107205600-107220000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:107205600-107220000	Weak transcription	HSMMtube	muscle
31	chr7:107205800-107219600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:107205800-107219800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:107205800-107219800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:107205800-107219800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:107205800-107220000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:107205800-107220000	Weak transcription	Brain Anterior Caudate	brain
37	chr7:107205800-107220000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:107205800-107220000	Weak transcription	Fetal Brain Male	brain
39	chr7:107206000-107219600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:107206000-107219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:107206000-107219800	Weak transcription	GM12878-XiMat	blood
42	chr7:107206000-107219800	Weak transcription	NHLF	lung
43	chr7:107206000-107220000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:107206000-107220000	Weak transcription	Thymus	Thymus
45	chr7:107206200-107219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:107206200-107219600	Weak transcription	Osteobl	bone
47	chr7:107206200-107219800	Weak transcription	NHDF-Ad	bronchial
48	chr7:107206200-107220000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:107206600-107219600	Weak transcription	Hela-S3	cervix
50	chr7:107206600-107219800	Weak transcription	NH-A	brain

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