Variant report

Variant	rs11830850
Chromosome Location	chr12:41622398-41622399
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41615335..41618133-chr12:41621079..41623279,2	K562	blood:
2	chr12:41619133..41620847-chr12:41622341..41624023,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11392694	0.90[AFR][1000 genomes]
rs11835868	0.98[AFR][1000 genomes]
rs12297913	1.00[CEU][hapmap]
rs17129118	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17129122	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17129130	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17129138	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17129139	0.92[CHB][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17129140	1.00[AFR][1000 genomes]
rs57259770	0.88[AFR][1000 genomes]
rs58479177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58686550	0.93[AFR][1000 genomes]
rs58695957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59215090	0.93[AFR][1000 genomes]
rs59820351	0.98[AFR][1000 genomes]
rs60489748	0.87[ASN][1000 genomes]
rs7304777	0.93[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73117069	0.90[AFR][1000 genomes]
rs73117071	0.90[AFR][1000 genomes]
rs73119031	0.98[AFR][1000 genomes]
rs73119042	0.90[AFR][1000 genomes]
rs73119065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958538	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41611800-41625200	Weak transcription	Aorta	Aorta
2	chr12:41616000-41623200	Weak transcription	Ovary	ovary
3	chr12:41616200-41623000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41621000-41625400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41621800-41623600	Enhancers	Brain Substantia Nigra	brain
6	chr12:41622000-41622400	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:41622000-41622600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:41622200-41622400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr12:41622200-41622600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:41622200-41623400	Enhancers	Rectal Smooth Muscle	rectum
11	chr12:41622200-41623600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:41622200-41623800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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