Variant report

Variant	rs2123461
Chromosome Location	chr14:65040680-65040681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64909070..64910820-chr14:65039192..65042111,2	K562	blood:
2	chr14:65035525..65037855-chr14:65039910..65042725,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10143672	0.85[EUR][1000 genomes]
rs10143906	0.85[EUR][1000 genomes]
rs1040612	0.86[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs10498515	0.92[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs1063391	0.96[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs10873175	0.92[ASN][1000 genomes]
rs11848114	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs12432891	0.96[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12589307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589322	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs12889677	0.86[EUR][1000 genomes]
rs12894807	0.86[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs1542312	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs2038270	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2038272	0.83[EUR][1000 genomes]
rs2045022	0.96[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2100362	1.00[CEU][hapmap]
rs2123463	0.96[CEU][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs2167765	0.85[EUR][1000 genomes]
rs35790370	0.85[EUR][1000 genomes]
rs4313734	0.96[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4902295	0.86[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs4902296	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs4902297	0.86[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs4902298	0.83[ASN][1000 genomes]
rs7141346	0.89[ASN][1000 genomes]
rs7145155	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7148289	0.86[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7151628	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7151976	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7154937	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7159809	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs761547	0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs8003734	0.89[ASN][1000 genomes]
rs8006695	0.85[EUR][1000 genomes]
rs8007313	0.82[CHB][hapmap]
rs8011038	0.95[CEU][hapmap]
rs8016170	0.85[ASN][1000 genomes]
rs8017407	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8018169	0.83[ASN][1000 genomes]
rs8018735	0.83[EUR][1000 genomes]
rs8020083	0.85[EUR][1000 genomes]
rs8020783	0.83[EUR][1000 genomes]
rs926802	0.92[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs9671381	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2123461	CEP70	trans	parietal	SCAN
rs2123461	PLEKHG3	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65021600-65047600	Weak transcription	Pancreas	Pancrea
2	chr14:65036000-65041600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:65036200-65044000	Weak transcription	Fetal Kidney	kidney
4	chr14:65039000-65041400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:65039000-65041800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr14:65039000-65041800	Enhancers	Brain Substantia Nigra	brain
7	chr14:65039200-65041000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:65039200-65041600	Enhancers	Fetal Muscle Leg	muscle
9	chr14:65039400-65040800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr14:65040200-65040800	Weak transcription	Esophagus	oesophagus
11	chr14:65040200-65041000	Enhancers	Brain Angular Gyrus	brain
12	chr14:65040200-65041000	Enhancers	Brain Hippocampus Middle	brain
13	chr14:65040200-65041000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:65040200-65041200	Weak transcription	Fetal Lung	lung
15	chr14:65040200-65041800	Enhancers	Brain Anterior Caudate	brain
16	chr14:65040200-65041800	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:65040200-65047200	Weak transcription	Psoas Muscle	Psoas
18	chr14:65040200-65047400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:65040200-65047800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:65040200-65048000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:65040200-65051200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:65040200-65058000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:65040400-65047200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:65040400-65048000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:65040600-65041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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