Variant report

Variant	rs2432
Chromosome Location	chr1:114631980-114631981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114621187..114625954-chr1:114630932..114635442,7	MCF-7	breast:
2	chr1:114594344..114596530-chr1:114631234..114632774,2	MCF-7	breast:
3	chr1:114631926..114634787-chr16:67192489..67195269,2	MCF-7	breast:
4	chr1:114622978..114624850-chr1:114631816..114634562,2	K562	blood:
5	chr1:114631687..114633246-chr1:114634431..114636796,2	K562	blood:

Variant related genes	Relation type
ENSG00000102871	Chromatin interaction
ENSG00000135722	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1574509	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1683253	0.85[JPT][hapmap];0.83[MEX][hapmap]
rs17473706	0.85[JPT][hapmap]
rs2774290	0.97[ASN][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2432	WDR77	cis	cerebellum	SCAN
rs2432	KCNA2	cis	cerebellum	SCAN
rs2432	DENND2C	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114619200-114640200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114625400-114639600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:114625400-114639800	Weak transcription	Right Atrium	heart
4	chr1:114630000-114632600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
6	chr1:114630600-114632800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:114630800-114632200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:114630800-114632400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:114630800-114632400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:114630800-114632600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:114630800-114632600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:114630800-114632800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:114631000-114632400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:114631000-114632400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:114631000-114632400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:114631000-114632400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:114631000-114632800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:114631000-114633400	Enhancers	HMEC	breast
19	chr1:114631200-114632800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:114631200-114633400	Enhancers	NHEK	skin
21	chr1:114631400-114632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:114631400-114634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:114631400-114638400	Enhancers	Fetal Lung	lung
24	chr1:114631400-114638800	Weak transcription	Fetal Brain Female	brain
25	chr1:114631600-114632000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:114631600-114633200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:114631800-114632200	Enhancers	Brain Germinal Matrix	brain
28	chr1:114631800-114632400	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:114631800-114632400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:114631800-114632800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:114631800-114633200	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:114631800-114633400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:114631800-114636800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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