Variant report

Variant	rs229587
Chromosome Location	chr14:65263300-65263301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65263268..65264769-chr14:65377543..65379077,2	K562	blood:
2	chr14:65255152..65259640-chr14:65260607..65263310,4	K562	blood:
3	chr14:65263037..65265900-chr14:65453092..65455357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1271040	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151165	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741466	0.87[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs17767662	0.84[ASN][1000 genomes]
rs192036	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038433	0.91[EUR][1000 genomes]
rs2269295	0.91[CEU][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2269296	0.91[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2269297	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs229580	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs229581	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229586	0.83[JPT][hapmap]
rs229588	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229589	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs229591	0.87[ASW][hapmap];0.92[CEU][hapmap];0.86[MEX][hapmap]
rs229627	0.87[CEU][hapmap]
rs229628	0.91[CEU][hapmap]
rs229672	0.84[ASN][1000 genomes]
rs229673	0.88[ASW][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.84[ASN][1000 genomes]
rs229675	0.84[ASN][1000 genomes]
rs368194	0.87[CEU][hapmap];0.84[CHD][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs375510	0.86[EUR][1000 genomes]
rs3819928	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs433143	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902317	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017385	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	esv2757572	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2759994	chr14:65254465-65271780	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs229587	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65232200-65274200	Weak transcription	Gastric	stomach
3	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
4	chr14:65244800-65272400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:65250400-65271800	Strong transcription	Fetal Muscle Leg	muscle
6	chr14:65251200-65267400	Weak transcription	Fetal Kidney	kidney
7	chr14:65251600-65264400	Weak transcription	Fetal Heart	heart
8	chr14:65252200-65265600	Weak transcription	Fetal Brain Female	brain
9	chr14:65252600-65274400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:65252800-65272600	Weak transcription	Psoas Muscle	Psoas
11	chr14:65254000-65282600	Weak transcription	Spleen	Spleen
12	chr14:65255600-65268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:65257200-65271600	Strong transcription	Right Ventricle	heart
14	chr14:65257400-65263400	Strong transcription	Brain Germinal Matrix	brain
15	chr14:65257400-65267000	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:65258000-65266800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:65258000-65274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:65258200-65266800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:65258200-65271800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr14:65258400-65266800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:65258600-65272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:65259000-65264200	Strong transcription	Left Ventricle	heart
23	chr14:65259400-65263400	Strong transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:65259800-65266600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:65260400-65263600	Strong transcription	K562	blood
26	chr14:65262000-65270400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:65262000-65289800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:65262200-65271800	Weak transcription	Brain Angular Gyrus	brain
29	chr14:65262800-65270400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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