Variant report

Variant	rs4434042
Chromosome Location	chr2:48666736-48666737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:48666382-48669107	H1-neurons	neurons:	n/a	chr2:48667667-48667680
2	MXI1	chr2:48666327-48669474	SK-N-SH	brain:	n/a	chr2:48667567-48667582 chr2:48668199-48668214 chr2:48667569-48667584
3	POLR2A	chr2:48666592-48669629	IMR90	lung:	n/a	n/a
4	JUN	chr2:48666584-48669380	K562	blood:	n/a	chr2:48667757-48667768

No.	Distal block	Cell Line	Cell type
1	chr2:48009081..48011260-chr2:48666512..48669305,2	K562	blood:
2	chr2:48540677..48543829-chr2:48665802..48669252,3	K562	blood:
3	chr2:48131056..48133889-chr2:48666649..48669305,2	MCF-7	breast:
4	chr2:48539557..48542081-chr2:48666297..48668955,4	MCF-7	breast:
5	chr2:48337671..48340205-chr2:48664640..48667465,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R21	TF binding region
ENSG00000170802	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3811522	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4953589	0.84[JPT][hapmap]
rs7606562	0.80[CHD][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap]

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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4434042	ATP6V1E2	cis	cerebellum	SCAN
rs4434042	TTC7A	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48661000-48667200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:48661400-48666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:48661600-48667000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:48661800-48667000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:48662200-48667000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:48662200-48667000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:48662600-48667000	Weak transcription	Liver	Liver
8	chr2:48663400-48667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:48663400-48667000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:48663600-48667000	Weak transcription	NH-A	brain
11	chr2:48663800-48667000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:48664000-48667000	Weak transcription	K562	blood
13	chr2:48665000-48666800	Enhancers	GM12878-XiMat	blood
14	chr2:48665000-48667000	Enhancers	Primary B cells from cord blood	blood
15	chr2:48666200-48667200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:48666400-48666800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:48666400-48666800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:48666400-48666800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:48666400-48667000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:48666400-48667000	Enhancers	Fetal Lung	lung
21	chr2:48666600-48667000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:48666600-48667000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:48666600-48667000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:48666600-48667000	Enhancers	NHDF-Ad	bronchial
25	chr2:48666600-48667000	Enhancers	Osteobl	bone
26	chr2:48666600-48667200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:48666600-48667200	Enhancers	Adipose Nuclei	Adipose
28	chr2:48666600-48667200	Enhancers	HSMM	muscle
29	chr2:48666600-48667400	Flanking Active TSS	Dnd41	blood
30	chr2:48666600-48668400	Active TSS	Fetal Brain Female	brain
31	chr2:48666600-48668600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:48666600-48668800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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