Variant report

Variant	rs2070581
Chromosome Location	chr2:74120181-74120182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74119557..74121562-chr2:74683599..74685996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239779	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10176602	0.86[CEU][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs12467259	0.86[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs13387647	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13397133	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1474335	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs17009417	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17009421	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17009424	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs17009428	0.80[CHB][hapmap]
rs17009429	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17009430	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap]
rs17009433	0.90[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs17009436	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs2163539	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2303987	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs3738846	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs3813232	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs57950796	0.80[ASN][1000 genomes]
rs58819058	0.80[ASN][1000 genomes]
rs59343451	0.95[ASN][1000 genomes]
rs61308121	0.80[ASN][1000 genomes]
rs6546875	0.82[JPT][hapmap]
rs6726010	0.91[CEU][hapmap];0.86[CHB][hapmap]
rs6737597	0.80[CHB][hapmap]
rs6752983	0.95[ASN][1000 genomes]
rs72814169	0.80[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2070581	STAMBP	cis	cerebellum	SCAN
rs2070581	ALMS1	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74115000-74123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:74117200-74121400	Weak transcription	Gastric	stomach
3	chr2:74117600-74120200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:74118000-74120400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:74118200-74123400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:74118200-74123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:74118600-74120200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:74118600-74120200	Weak transcription	Lung	lung
9	chr2:74118600-74128400	Weak transcription	HMEC	breast
10	chr2:74119400-74120200	Enhancers	Placenta	Placenta
11	chr2:74119400-74124600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:74119600-74120200	Flanking Active TSS	Fetal Stomach	stomach
13	chr2:74119600-74120400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:74119600-74120400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:74119600-74120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:74119600-74120400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:74119600-74120400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:74119600-74120400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:74119600-74120600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:74119600-74120800	Flanking Active TSS	NHLF	lung
21	chr2:74119600-74122800	Active TSS	Aorta	Aorta
22	chr2:74119800-74120200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:74119800-74120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:74119800-74120200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:74119800-74120200	Active TSS	Ovary	ovary
26	chr2:74119800-74120400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:74119800-74120400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:74119800-74120400	Active TSS	Colon Smooth Muscle	Colon
29	chr2:74119800-74120400	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:74119800-74120800	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:74119800-74124800	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:74120000-74120200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:74120000-74120200	Enhancers	Fetal Thymus	thymus
34	chr2:74120000-74120600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr2:74120000-74121400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:74120000-74122400	Bivalent/Poised TSS	NH-A	brain

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