Variant report

Variant	rs613169
Chromosome Location	chr7:129128776-129128777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129123601..129126259-chr7:129127916..129129558,2	K562	blood:
2	chr7:129127885..129129697-chr7:129250080..129251995,2	MCF-7	breast:
3	chr7:129128173..129130689-chr7:129136182..129137829,2	K562	blood:
4	chr7:129128271..129130546-chr7:129249994..129251580,2	K562	blood:
5	chr7:129127657..129130703-chr7:129131027..129133692,4	K562	blood:

Variant related genes	Relation type
ENSG00000199846	Chromatin interaction
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11768964	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1272593	0.92[EUR][1000 genomes]
rs55832716	0.80[EUR][1000 genomes]
rs581829	0.92[EUR][1000 genomes]
rs610591	0.82[ASN][1000 genomes]
rs613068	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632505	0.93[EUR][1000 genomes]
rs639605	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs655239	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs656981	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs666499	0.92[EUR][1000 genomes]
rs676947	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690872	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs690903	0.80[EUR][1000 genomes]
rs691332	0.82[ASN][1000 genomes]
rs692132	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs692248	0.92[EUR][1000 genomes]
rs692507	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs692686	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692695	0.92[EUR][1000 genomes]
rs712692	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs712693	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
2	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
3	chr7:129103200-129129600	Weak transcription	Dnd41	blood
4	chr7:129103200-129135400	Weak transcription	HepG2	liver
5	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:129111800-129128800	Weak transcription	HSMM	muscle
7	chr7:129112200-129129000	Weak transcription	NHDF-Ad	bronchial
8	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
9	chr7:129120000-129129600	Weak transcription	Small Intestine	intestine
10	chr7:129120800-129130000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:129121200-129129200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:129121200-129130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:129121600-129129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:129121600-129129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:129121600-129132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:129121800-129129200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
18	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
19	chr7:129124400-129128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:129124400-129132000	Weak transcription	Psoas Muscle	Psoas
21	chr7:129126000-129129400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:129126000-129129800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:129126000-129129800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:129126000-129131200	Weak transcription	Left Ventricle	heart
25	chr7:129126000-129133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:129126000-129136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:129126200-129128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:129126200-129129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:129126200-129133000	Weak transcription	NHEK	skin
30	chr7:129126400-129128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:129126400-129133000	Weak transcription	Brain Anterior Caudate	brain
32	chr7:129127000-129130000	Strong transcription	K562	blood
33	chr7:129127400-129129400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:129127800-129133400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:129128000-129133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:129128000-129133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:129128600-129128800	Enhancers	NH-A	brain
38	chr7:129128600-129130000	Enhancers	Osteobl	bone

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