Variant report

Variant	rs1060734
Chromosome Location	chr2:30865048-30865049
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	chr2:30864804..30866571-chr2:30870628..30873251,2	MCF-7	breast:
2	chr2:30859615..30861483-chr2:30862535..30865064,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13414186	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470535	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952001	0.80[EUR][1000 genomes]
rs4952002	0.92[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]
rs4952166	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6548023	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7565755	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9636423	0.85[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv581266	chr2:30864789-30874229	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1060734	ALK	cis	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30835800-30871200	Weak transcription	Small Intestine	intestine
2	chr2:30841800-30872200	Weak transcription	Spleen	Spleen
3	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:30850200-30874600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:30850400-30869200	Weak transcription	Gastric	stomach
7	chr2:30850400-30874600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:30853200-30867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30853200-30872000	Weak transcription	NHDF-Ad	bronchial
10	chr2:30854000-30867000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:30854200-30867600	Weak transcription	Psoas Muscle	Psoas
12	chr2:30854400-30865200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:30854400-30866600	Weak transcription	GM12878-XiMat	blood
14	chr2:30855000-30865400	Weak transcription	HSMM	muscle
15	chr2:30855600-30867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:30856400-30866600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:30857000-30869000	Weak transcription	Hela-S3	cervix
18	chr2:30858600-30865400	Strong transcription	Primary T cells from cord blood	blood
19	chr2:30859600-30872000	Weak transcription	Fetal Stomach	stomach
20	chr2:30860200-30866200	Weak transcription	HUVEC	blood vessel
21	chr2:30860400-30878200	Weak transcription	NHLF	lung
22	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
23	chr2:30861600-30865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:30861600-30872200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:30862000-30868600	Weak transcription	Brain Substantia Nigra	brain
26	chr2:30862200-30865200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:30862400-30866800	Weak transcription	HMEC	breast
28	chr2:30862400-30868400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:30862600-30865200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:30862800-30865200	Strong transcription	Dnd41	blood
31	chr2:30862800-30865600	Strong transcription	Fetal Lung	lung
32	chr2:30863000-30865200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:30863000-30865200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:30863000-30865200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:30863000-30865200	Strong transcription	A549	lung
36	chr2:30863000-30865400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:30863000-30866000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:30863200-30871800	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:30863400-30865600	Weak transcription	Esophagus	oesophagus
40	chr2:30863400-30866800	Weak transcription	Pancreas	Pancrea
41	chr2:30863600-30866600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:30863600-30882200	Weak transcription	Ovary	ovary
43	chr2:30863800-30865200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:30863800-30865200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr2:30863800-30865200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:30863800-30871800	Weak transcription	HSMMtube	muscle
47	chr2:30864000-30866400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:30864000-30866600	Weak transcription	Thymus	Thymus
49	chr2:30864000-30868600	Weak transcription	Lung	lung
50	chr2:30864000-30870800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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