Variant report

Variant	rs712693
Chromosome Location	chr7:129081665-129081666
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129080681..129082360-chr7:129086305..129089273,2	K562	blood:
2	chr7:129078804..129082124-chr7:129097387..129099902,4	K562	blood:
3	chr7:128980076..128982455-chr7:129080732..129082646,2	K562	blood:
4	chr7:129074192..129076446-chr7:129080507..129082185,2	MCF-7	breast:
5	chr7:129078097..129081964-chr7:129082738..129085474,4	K562	blood:
6	chr7:128980529..128982455-chr7:129080074..129082232,2	K562	blood:
7	chr7:129078968..129081813-chr7:129111465..129113144,2	K562	blood:
8	chr7:129078918..129082456-chr7:129089689..129095627,7	K562	blood:
9	chr7:129080760..129083250-chr7:129109183..129110729,2	K562	blood:
10	chr7:129078918..129084090-chr7:129089689..129096186,10	K562	blood:
11	chr7:129008253..129010107-chr7:129078783..129081739,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11768964	0.92[EUR][1000 genomes]
rs1272593	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55832716	0.85[EUR][1000 genomes]
rs581829	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs586978	0.90[AFR][1000 genomes]
rs587499	0.88[AFR][1000 genomes]
rs613068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs613169	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs632505	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs639605	0.93[EUR][1000 genomes]
rs655239	0.92[EUR][1000 genomes]
rs656981	0.92[EUR][1000 genomes]
rs666499	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs676947	0.92[EUR][1000 genomes]
rs690872	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs690903	0.85[EUR][1000 genomes]
rs692132	0.92[EUR][1000 genomes]
rs692248	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs692507	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs692686	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs692695	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129075200-129083400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:129075200-129088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:129075200-129108400	Weak transcription	Gastric	stomach
6	chr7:129075400-129082800	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:129075400-129085600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:129075400-129086000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:129075400-129105800	Weak transcription	Ovary	ovary
12	chr7:129075600-129083400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:129075600-129083400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:129075600-129087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:129075800-129085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:129075800-129087400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:129075800-129091800	Weak transcription	HepG2	liver
18	chr7:129076000-129083600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:129076000-129088800	Weak transcription	Fetal Lung	lung
20	chr7:129076000-129095000	Weak transcription	Dnd41	blood
21	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:129076400-129085400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:129076400-129088000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:129076600-129083400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:129076600-129083400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:129077200-129083000	Weak transcription	Right Ventricle	heart
27	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:129078000-129083000	Enhancers	Fetal Heart	heart
29	chr7:129078200-129085800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:129078600-129083400	Weak transcription	Brain Anterior Caudate	brain
31	chr7:129078600-129087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:129078800-129086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:129079000-129083400	Weak transcription	HSMMtube	muscle
34	chr7:129079200-129090200	Weak transcription	HSMM	muscle
35	chr7:129079200-129095200	Weak transcription	NHLF	lung
36	chr7:129079400-129082200	Weak transcription	NH-A	brain
37	chr7:129079400-129083400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:129079600-129083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:129079600-129107200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:129079800-129082600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:129079800-129083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:129079800-129106400	Weak transcription	NHDF-Ad	bronchial
43	chr7:129080000-129083000	Weak transcription	Psoas Muscle	Psoas
44	chr7:129080000-129083400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:129080000-129087200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:129080000-129091800	Weak transcription	Osteobl	bone
47	chr7:129080000-129094600	Weak transcription	Hela-S3	cervix
48	chr7:129080000-129104800	Weak transcription	A549	lung
49	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
50	chr7:129080200-129084400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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