Variant report

Variant	rs57158958
Chromosome Location	chr7:138571001-138571002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138570944..138571888-chr7:138665632..138666745,4	MCF-7	breast:
2	chr7:138569036..138571587-chr7:138666193..138667762,2	MCF-7	breast:
3	chr7:138565143..138567415-chr7:138569236..138571035,3	MCF-7	breast:
4	chr7:138567501..138571817-chr7:138572093..138577716,5	MCF-7	breast:
5	chr7:138570090..138572493-chr7:138792959..138794460,2	MCF-7	breast:
6	chr7:138570397..138571370-chr7:138759680..138760395,3	MCF-7	breast:
7	chr7:138570907..138571898-chr7:138665894..138666664,2	K562	blood:
8	chr7:138570847..138572851-chr7:138718799..138721373,2	MCF-7	breast:
9	chr7:138570760..138571826-chr7:138759504..138760435,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146858	Chromatin interaction
ENSG00000105939	Chromatin interaction
ENSG00000122778	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10267281	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28706894	0.98[EUR][1000 genomes]
rs28713442	0.96[EUR][1000 genomes]
rs57282750	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs59679269	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6944423	0.98[EUR][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	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831154	chr7:138470488-138674113	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1027143	chr7:138480084-138992900	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv539136	chr7:138480084-138992900	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138523800-138572400	Weak transcription	Fetal Heart	heart
2	chr7:138534600-138592400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:138536800-138583000	Weak transcription	HUVEC	blood vessel
4	chr7:138544600-138574800	Weak transcription	Spleen	Spleen
5	chr7:138545400-138597200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:138546200-138571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:138549200-138596800	Weak transcription	Aorta	Aorta
8	chr7:138553000-138592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:138554200-138581600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:138554400-138574800	Weak transcription	Esophagus	oesophagus
11	chr7:138555400-138575400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:138555600-138578800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:138556200-138575400	Weak transcription	Ovary	ovary
14	chr7:138556200-138578400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:138558600-138575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:138558600-138575600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:138561400-138583000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:138561600-138572600	Weak transcription	A549	lung
19	chr7:138561800-138571200	Weak transcription	Osteobl	bone
20	chr7:138561800-138574200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:138561800-138577200	Weak transcription	HSMM	muscle
22	chr7:138562000-138575000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:138562000-138598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:138562000-138598200	Weak transcription	HMEC	breast
25	chr7:138562200-138571400	Weak transcription	NHEK	skin
26	chr7:138562600-138580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:138566000-138571200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:138566000-138571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:138566000-138574600	Weak transcription	Fetal Lung	lung
30	chr7:138566000-138574800	Weak transcription	Placenta	Placenta
31	chr7:138566000-138575400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:138566000-138583600	Weak transcription	Lung	lung
33	chr7:138566200-138571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:138566200-138571600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:138566200-138574400	Weak transcription	Fetal Kidney	kidney
36	chr7:138566200-138574800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:138566200-138575200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:138566200-138575400	Weak transcription	Fetal Intestine Small	intestine
39	chr7:138566200-138578800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:138566200-138588200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:138566200-138606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:138566400-138571200	Weak transcription	Adipose Nuclei	Adipose
43	chr7:138566400-138572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:138566400-138574200	Weak transcription	NH-A	brain
45	chr7:138566400-138575000	Weak transcription	Pancreas	Pancrea
46	chr7:138566400-138575400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:138566400-138575800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:138566400-138577600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:138566400-138578200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:138566400-138609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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