Variant report

Variant	rs4730060
Chromosome Location	chr7:104564794-104564795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104563679..104565280-chr7:104568067..104569719,2	K562	blood:
2	chr7:104562700..104564901-chr7:104622729..104625320,2	MCF-7	breast:
3	chr7:104560247..104565099-chr7:104651961..104655493,7	MCF-7	breast:
4	chr7:104563318..104568443-chr7:104653143..104655572,8	K562	blood:
5	chr7:104559891..104561943-chr7:104563787..104565325,2	K562	blood:
6	chr7:104561816..104567252-chr7:104650571..104656074,9	K562	blood:

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10231439	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10245078	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10251106	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12333765	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2891786	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59869531	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60551932	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6949656	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs740068	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104558400-104571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104562400-104567000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:104562600-104571800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:104563200-104567200	Active TSS	Fetal Intestine Small	intestine
5	chr7:104563400-104569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:104563800-104566200	Weak transcription	Pancreas	Pancrea
7	chr7:104563800-104567000	Active TSS	Fetal Kidney	kidney
8	chr7:104563800-104567400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:104563800-104567600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:104563800-104567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:104563800-104567800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:104563800-104570800	Weak transcription	Colonic Mucosa	Colon
13	chr7:104563800-104571800	Weak transcription	Fetal Heart	heart
14	chr7:104563800-104571800	Weak transcription	Right Atrium	heart
15	chr7:104563800-104571800	Weak transcription	Hela-S3	cervix
16	chr7:104563800-104573400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:104564000-104565800	Weak transcription	HepG2	liver
18	chr7:104564000-104567200	Active TSS	Fetal Intestine Large	intestine
19	chr7:104564000-104567400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:104564000-104567400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:104564000-104567600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:104564000-104567600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:104564000-104567800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:104564000-104568000	Weak transcription	NHEK	skin
25	chr7:104564000-104569000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:104564000-104569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:104564000-104570400	Weak transcription	Small Intestine	intestine
28	chr7:104564000-104571800	Weak transcription	Brain Substantia Nigra	brain
29	chr7:104564000-104571800	Weak transcription	Lung	lung
30	chr7:104564000-104572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:104564000-104574600	Weak transcription	HSMM	muscle
32	chr7:104564200-104565800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:104564200-104565800	Weak transcription	Stomach Mucosa	stomach
34	chr7:104564200-104567200	Active TSS	Duodenum Mucosa	Duodenum
35	chr7:104564200-104568200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:104564200-104569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:104564200-104570400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:104564600-104566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:104564600-104566200	Weak transcription	Rectal Mucosa Donor 31	rectum

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