Variant report

Variant	rs712735
Chromosome Location	chr7:129171989-129171990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129166259..129168439-chr7:129170451..129172897,2	K562	blood:
2	chr7:129165126..129167759-chr7:129171397..129173054,2	K562	blood:

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

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

rs_ID	r²[population]
rs10954237	0.81[ASN][1000 genomes]
rs12706888	0.88[ASN][1000 genomes]
rs34637187	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4728167	0.83[ASN][1000 genomes]
rs4731588	0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4731590	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55738605	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61069592	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61120971	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61411560	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490876	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs658094	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs691760	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691989	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs692012	0.82[ASN][1000 genomes]
rs692260	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs692316	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs692357	0.82[ASN][1000 genomes]
rs692479	0.81[EUR][1000 genomes]
rs692490	0.81[EUR][1000 genomes]
rs712736	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73157681	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	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
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3407180	chr7:129170016-129174514	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3373278	chr7:129171166-129173664	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129162200-129172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129163000-129172000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:129165800-129172000	Weak transcription	Spleen	Spleen
5	chr7:129169400-129174800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:129169600-129172000	Enhancers	HMEC	breast
7	chr7:129169600-129172600	Enhancers	Placenta	Placenta
8	chr7:129169800-129172000	Enhancers	NHEK	skin
9	chr7:129169800-129172200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:129170000-129172000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:129170000-129172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:129170000-129172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:129170200-129172200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:129171000-129172400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:129171200-129172000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:129171200-129173200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:129171200-129175200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:129171600-129172600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:129171600-129174000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:129171600-129174400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:129171800-129172200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:129171800-129172400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:129171800-129173600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:129171800-129174200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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