Variant report

Variant	rs6750760
Chromosome Location	chr2:179759810-179759811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179758444..179761405-chr2:179761533..179763103,2	K562	blood:
2	chr2:179759513..179761181-chr2:179761967..179763656,2	MCF-7	breast:
3	chr2:179759499..179761617-chr2:179773864..179776480,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10167882	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12990128	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1489487	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1489490	0.83[ASN][1000 genomes]
rs2130220	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4894062	0.83[ASN][1000 genomes]
rs6724114	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6747402	0.83[ASN][1000 genomes]
rs7562602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6750760	TTN	cis	parietal	SCAN
rs6750760	CCDC141	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
7	chr2:179748000-179760800	Weak transcription	Right Atrium	heart
8	chr2:179748600-179761400	Weak transcription	Primary B cells from cord blood	blood
9	chr2:179749600-179772800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179751200-179775200	Weak transcription	Pancreas	Pancrea
12	chr2:179753400-179760800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:179753600-179768600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179753600-179768600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179755000-179761800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:179756200-179761000	Weak transcription	Left Ventricle	heart
17	chr2:179757000-179760000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:179757800-179760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:179759000-179760800	Weak transcription	Psoas Muscle	Psoas
20	chr2:179759000-179761000	Weak transcription	Aorta	Aorta
21	chr2:179759200-179760200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:179759600-179761400	Weak transcription	Primary T cells from cord blood	blood
23	chr2:179759600-179761400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:179759800-179760400	Enhancers	HSMM	muscle
25	chr2:179759800-179761600	Enhancers	HSMMtube	muscle
26	chr2:179759800-179762400	Enhancers	Fetal Heart	heart

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