Variant report

Variant	rs17458100
Chromosome Location	chr12:40428768-40428769
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40427544..40429854-chr12:40484526..40486904,2	MCF-7	breast:
2	chr12:40428243..40430877-chr12:40432067..40435027,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11564198	0.82[CHB][hapmap]
rs17442283	1.00[CHB][hapmap]
rs17443234	1.00[CHB][hapmap]
rs17458452	1.00[CHB][hapmap]
rs17484093	0.91[CHB][hapmap]
rs17489542	1.00[CHB][hapmap]
rs17518134	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28365208	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28370638	1.00[CHB][hapmap]
rs28370640	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28370664	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs28370674	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs28370675	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs28370694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28370729	1.00[CHB][hapmap]
rs28370828	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28740190	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv558597	chr12:40414631-40442892	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40405400-40445200	Weak transcription	K562	blood
3	chr12:40416600-40441800	Weak transcription	Ovary	ovary
4	chr12:40419000-40447600	Weak transcription	Hela-S3	cervix
5	chr12:40421600-40453400	Weak transcription	Left Ventricle	heart
6	chr12:40425200-40429000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:40425400-40429200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:40425600-40429000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:40425600-40429800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:40426000-40428800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:40426000-40429000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:40426200-40429000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:40426400-40452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:40426800-40429000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:40427000-40429200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:40427200-40429000	Enhancers	Stomach Mucosa	stomach
17	chr12:40427800-40428800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:40427800-40429200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:40427800-40430000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:40428000-40429000	Enhancers	Fetal Lung	lung
21	chr12:40428000-40429000	Enhancers	NHDF-Ad	bronchial
22	chr12:40428000-40429400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:40428000-40429600	Enhancers	A549	lung
24	chr12:40428000-40436400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:40428000-40452600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:40428200-40428800	Enhancers	Brain Germinal Matrix	brain
27	chr12:40428200-40428800	Enhancers	Osteobl	bone
28	chr12:40428600-40428800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:40428600-40428800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:40428600-40428800	Enhancers	Aorta	Aorta

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