Variant report

Variant	rs7600330
Chromosome Location	chr2:179689985-179689986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11693372	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12464151	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465459	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12469367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471428	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12992014	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006510	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17362581	1.00[CHB][hapmap]
rs1844334	0.87[ASN][1000 genomes]
rs1994546	1.00[YRI][hapmap]
rs2366912	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3769858	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6715406	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6729746	0.87[ASN][1000 genomes]
rs6733291	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6747791	1.00[CHB][hapmap]
rs7561149	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591782	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592323	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs883894	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7600330	TTN	cis	brain	BrainEAC

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179674400-179691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179685000-179692600	Weak transcription	Right Ventricle	heart
4	chr2:179685000-179693800	Weak transcription	HSMM	muscle
5	chr2:179685000-179694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:179685200-179692000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:179685200-179692200	Weak transcription	Aorta	Aorta
8	chr2:179685200-179692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:179685200-179694000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:179685200-179694000	Weak transcription	HSMMtube	muscle
11	chr2:179685200-179698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:179685600-179698200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179685800-179693400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179685800-179698000	Weak transcription	Fetal Heart	heart
15	chr2:179689200-179692400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:179689400-179690200	Weak transcription	Left Ventricle	heart
17	chr2:179689400-179690400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:179689400-179693800	Enhancers	HUVEC	blood vessel
19	chr2:179689600-179690000	Enhancers	Osteobl	bone
20	chr2:179689600-179690400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:179689600-179690600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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