Variant report

Variant	rs4074503
Chromosome Location	chr7:116597698-116597699
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	CUX1	chr7:116597649-116597848	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:111201180..111203639-chr7:116596222..116597858,2	MCF-7	breast:
2	chr7:116595834..116597800-chr7:116612377..116614043,2	K562	blood:
3	chr7:116592155..116595657-chr7:116596511..116599037,5	MCF-7	breast:
4	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:

Variant related genes	Relation type
ST7-AS1	TF binding region
ENSG00000004866	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000184903	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000214188	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10230431	0.97[EUR][1000 genomes]
rs10260368	0.82[ASN][1000 genomes]
rs17139184	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17139270	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2428284	0.82[ASN][1000 genomes]
rs2428286	0.82[ASN][1000 genomes]
rs2428289	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2429032	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2429044	0.82[ASN][1000 genomes]
rs35042045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489259	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57283107	0.95[EUR][1000 genomes]
rs61673738	0.92[EUR][1000 genomes]
rs61690499	0.97[EUR][1000 genomes]
rs6466595	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963873	0.85[EUR][1000 genomes];0.80[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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116594800-116600200	Weak transcription	Lung	lung
2	chr7:116595000-116598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:116595000-116608600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:116595200-116598000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:116595200-116600200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:116595400-116598000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:116595400-116598000	Weak transcription	Brain Anterior Caudate	brain
9	chr7:116595400-116608600	Weak transcription	HSMM	muscle
10	chr7:116595600-116597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:116595600-116598200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:116595600-116602800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:116596200-116598200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:116596200-116598800	Flanking Active TSS	GM12878-XiMat	blood
16	chr7:116596200-116601000	Weak transcription	NHEK	skin
17	chr7:116596400-116597800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:116596400-116599800	Weak transcription	NHLF	lung
19	chr7:116596400-116616600	Weak transcription	Osteobl	bone
20	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
21	chr7:116596600-116597800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:116596600-116598000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:116596600-116598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:116596600-116598200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:116596600-116600800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:116596600-116606600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:116596600-116606800	Weak transcription	Hela-S3	cervix
28	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
29	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:116596800-116597800	Weak transcription	Liver	Liver
31	chr7:116596800-116598200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:116596800-116598200	Weak transcription	Aorta	Aorta
33	chr7:116596800-116598200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:116596800-116598600	Weak transcription	Right Ventricle	heart
35	chr7:116596800-116603600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:116596800-116606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:116596800-116606800	Weak transcription	Psoas Muscle	Psoas
38	chr7:116596800-116607200	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:116596800-116609600	Weak transcription	Right Atrium	heart
40	chr7:116596800-116609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:116597000-116598000	Weak transcription	Pancreas	Pancrea
43	chr7:116597000-116598200	Weak transcription	Left Ventricle	heart
44	chr7:116597000-116598400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:116597000-116599600	Enhancers	K562	blood
46	chr7:116597000-116641600	Weak transcription	Ovary	ovary
47	chr7:116597200-116598600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:116597200-116602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:116597200-116602800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:116597200-116610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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