Variant report

Variant	rs942150
Chromosome Location	chr6:131703293-131703294
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	chr6:131698297..131700688-chr6:131701676..131704606,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1210091	1.00[YRI][hapmap]
rs6916044	0.84[EUR][1000 genomes]
rs6929522	0.84[EUR][1000 genomes]
rs9385575	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483268	0.80[EUR][1000 genomes]
rs9492949	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1839224	chr6:131703293-131834119	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs942150	CAPN2	trans	lymphoblastoid	seeQTL
rs942150	VNN1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131687600-131705800	Weak transcription	Gastric	stomach
2	chr6:131689000-131705000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:131690000-131711200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:131690200-131704400	Weak transcription	Primary T cells from cord blood	blood
5	chr6:131700800-131706400	Enhancers	HSMMtube	muscle
6	chr6:131701600-131708800	Weak transcription	Osteobl	bone
7	chr6:131701800-131705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:131701800-131712400	Enhancers	Fetal Brain Male	brain
9	chr6:131702000-131705000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:131702000-131705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:131702000-131705400	Enhancers	Fetal Muscle Leg	muscle
12	chr6:131702000-131705800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:131702200-131704000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:131702400-131704000	Enhancers	Brain Angular Gyrus	brain
15	chr6:131702400-131705000	Enhancers	Fetal Lung	lung
16	chr6:131702400-131705200	Enhancers	Fetal Brain Female	brain
17	chr6:131702400-131705800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:131702600-131703400	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:131702600-131703600	Weak transcription	Brain Germinal Matrix	brain
20	chr6:131702600-131704000	Enhancers	Fetal Stomach	stomach
21	chr6:131702600-131704200	Enhancers	Brain Hippocampus Middle	brain
22	chr6:131702600-131704200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:131702600-131704800	Weak transcription	HSMM	muscle
24	chr6:131702800-131703400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:131702800-131704800	Weak transcription	NHDF-Ad	bronchial
26	chr6:131702800-131705400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:131703000-131703800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:131703000-131704000	Weak transcription	Spleen	Spleen
29	chr6:131703000-131704600	Enhancers	Psoas Muscle	Psoas
30	chr6:131703200-131703400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:131703200-131703400	Enhancers	Fetal Muscle Trunk	muscle

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