Variant report

Variant	rs230157
Chromosome Location	chr20:41113279-41113280
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	chr20:41083008..41085007-chr20:41112917..41114827,2	MCF-7	breast:
2	chr20:41106434..41108888-chr20:41112524..41115086,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17747690	1.00[ASW][hapmap]
rs17747895	1.00[ASW][hapmap]
rs17747999	1.00[ASW][hapmap]
rs17748052	1.00[ASW][hapmap]
rs230163	0.87[EUR][1000 genomes]
rs230165	0.81[CEU][hapmap]
rs230166	1.00[ASW][hapmap];0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35349846	1.00[ASW][hapmap]
rs4812614	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1059852	chr20:41087948-41217672	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv544276	chr20:41087948-41217672	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1063422	chr20:41095537-41114340	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1055546	chr20:41102999-41260749	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1807209	chr20:41107678-41154898	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs230157	SPINT3	cis	parietal	SCAN
rs230157	KIAA1755	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41111800-41113600	Enhancers	Fetal Brain Male	brain
2	chr20:41112000-41116200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:41112200-41113400	Enhancers	Adipose Nuclei	Adipose
4	chr20:41112200-41113600	Enhancers	Brain Substantia Nigra	brain
5	chr20:41112200-41113600	Enhancers	Right Atrium	heart
6	chr20:41112200-41113800	Enhancers	Fetal Muscle Trunk	muscle
7	chr20:41112200-41114000	Enhancers	Brain Hippocampus Middle	brain
8	chr20:41112400-41113400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:41112400-41113400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr20:41112400-41113600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr20:41112400-41114000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:41112400-41114400	Enhancers	Fetal Muscle Leg	muscle
13	chr20:41112400-41115200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr20:41112600-41113400	Weak transcription	Pancreas	Pancrea
15	chr20:41112600-41113600	Weak transcription	Left Ventricle	heart
16	chr20:41112600-41113800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:41112800-41114600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr20:41113000-41113400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr20:41113000-41113400	Enhancers	Fetal Lung	lung
20	chr20:41113000-41113400	Weak transcription	Lung	lung
21	chr20:41113000-41114800	Enhancers	Fetal Kidney	kidney
22	chr20:41113200-41113400	Enhancers	Brain Germinal Matrix	brain
23	chr20:41113200-41113800	Enhancers	Duodenum Smooth Muscle	Duodenum

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