Variant report

Variant	rs35131522
Chromosome Location	chr7:129121874-129121875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129117438..129120740-chr7:129121214..129124192,3	K562	blood:
2	chr7:129014175..129016291-chr7:129121873..129124145,2	K562	blood:
3	chr7:129112430..129113978-chr7:129119757..129121985,2	K562	blood:
4	chr7:129106613..129108809-chr7:129119853..129122619,2	K562	blood:
5	chr7:129112478..129114917-chr7:129120485..129122147,2	K562	blood:

Variant related genes	Relation type
ENSG00000239919	Chromatin interaction
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10500117	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954233	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10954234	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155142	0.88[EUR][1000 genomes]
rs12667232	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12671604	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305326	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34000750	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34794308	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34916100	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35277123	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35544616	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4728165	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731578	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731579	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4731580	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731581	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731582	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731583	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62489110	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6943021	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs753336	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs966481	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
2	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
3	chr7:129097600-129128600	Weak transcription	NH-A	brain
4	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:129102200-129124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
7	chr7:129103200-129129600	Weak transcription	Dnd41	blood
8	chr7:129103200-129135400	Weak transcription	HepG2	liver
9	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129105400-129127400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:129107400-129124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:129108800-129122400	Weak transcription	Left Ventricle	heart
13	chr7:129108800-129128600	Weak transcription	Osteobl	bone
14	chr7:129109200-129125800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:129110800-129122600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:129111800-129125400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:129111800-129125800	Weak transcription	HMEC	breast
18	chr7:129111800-129128800	Weak transcription	HSMM	muscle
19	chr7:129112000-129122800	Weak transcription	NHEK	skin
20	chr7:129112200-129129000	Weak transcription	NHDF-Ad	bronchial
21	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
22	chr7:129112600-129125800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:129116400-129127400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:129116600-129122600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:129116600-129125400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:129117200-129124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:129117200-129126200	Strong transcription	K562	blood
28	chr7:129117600-129128000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:129120000-129129600	Weak transcription	Small Intestine	intestine
30	chr7:129120400-129122600	Enhancers	Placenta	Placenta
31	chr7:129120400-129123000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:129120400-129126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:129120600-129123400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:129120800-129130000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:129121000-129128000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:129121200-129122000	ZNF genes & repeats	Fetal Stomach	stomach
37	chr7:129121200-129122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:129121200-129123800	Weak transcription	Psoas Muscle	Psoas
39	chr7:129121200-129124400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:129121200-129129200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:129121200-129130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:129121600-129122000	Strong transcription	Right Ventricle	heart
43	chr7:129121600-129129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:129121600-129129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:129121600-129132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:129121800-129125400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:129121800-129129200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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