Variant report

Variant	rs12319636
Chromosome Location	chr12:42417111-42417112
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42416637..42419148-chr12:42718725..42720773,2	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11181316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181323	1.00[AMR][1000 genomes]
rs11181352	1.00[AMR][1000 genomes]
rs11181358	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs11181365	1.00[AMR][1000 genomes]
rs12298117	1.00[AMR][1000 genomes]
rs12299325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300748	1.00[AMR][1000 genomes]
rs12300940	1.00[AMR][1000 genomes]
rs12306689	1.00[AMR][1000 genomes]
rs12310121	1.00[AMR][1000 genomes]
rs12310800	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12311173	1.00[AMR][1000 genomes]
rs12312552	1.00[ASW][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12313898	1.00[AMR][1000 genomes]
rs12320539	0.89[YRI][hapmap]
rs12322282	1.00[AMR][1000 genomes]
rs12322316	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12322344	1.00[AMR][1000 genomes]
rs12322394	1.00[AMR][1000 genomes]
rs12385814	1.00[AMR][1000 genomes]
rs1920699	0.86[AFR][1000 genomes]
rs28431054	1.00[AMR][1000 genomes]
rs28599887	1.00[AMR][1000 genomes]
rs56736670	1.00[AMR][1000 genomes]
rs58977672	1.00[AMR][1000 genomes]
rs61023006	1.00[AMR][1000 genomes]
rs7306048	1.00[AMR][1000 genomes]
rs7974036	1.00[AMR][1000 genomes]
rs7976241	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42409200-42417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:42411400-42417800	Weak transcription	GM12878-XiMat	blood
3	chr12:42414400-42417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:42414400-42417800	Enhancers	HUVEC	blood vessel
5	chr12:42414600-42417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:42414600-42418000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:42415200-42417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:42415200-42417600	Weak transcription	Left Ventricle	heart
9	chr12:42415400-42417800	Weak transcription	Adipose Nuclei	Adipose
10	chr12:42416200-42417600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:42416200-42417800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:42416200-42417800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:42416200-42417800	Weak transcription	Fetal Brain Male	brain
14	chr12:42416400-42417400	Enhancers	Brain Germinal Matrix	brain
15	chr12:42416600-42417200	Enhancers	Spleen	Spleen
16	chr12:42416800-42417200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:42416800-42417800	Enhancers	Brain Substantia Nigra	brain
18	chr12:42417000-42417200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:42417000-42417600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:42417000-42417800	Enhancers	Fetal Muscle Leg	muscle
21	chr12:42417000-42417800	Enhancers	Right Atrium	heart

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