Variant report

Variant	rs726668
Chromosome Location	chr14:65495816-65495817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65492904..65494484-chr14:65494516..65497190,2	MCF-7	breast:
2	chr14:65494994..65497009-chr14:65497327..65499827,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11620955	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11627531	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11628273	1.00[CEU][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12435835	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12587257	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4466998	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4586342	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4605081	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4899159	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7148590	0.96[CEU][hapmap];0.91[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7155275	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7155454	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8006419	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8012008	0.80[AMR][1000 genomes];0.85[EUR][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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs726668	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs726668	CHURC1	cis	lymphoblastoid	seeQTL
rs726668	RAB15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
2	chr14:65457600-65499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:65459400-65508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:65473400-65501400	Weak transcription	NHLF	lung
8	chr14:65473800-65513800	Weak transcription	HMEC	breast
9	chr14:65475200-65509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:65475800-65501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:65480000-65507400	Weak transcription	Gastric	stomach
12	chr14:65480200-65499000	Weak transcription	Fetal Brain Male	brain
13	chr14:65480800-65507400	Weak transcription	Hela-S3	cervix
14	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:65483600-65496600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:65483600-65499000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:65483600-65501400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:65484200-65496000	Weak transcription	Ovary	ovary
19	chr14:65486800-65499200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:65487200-65496200	Weak transcription	K562	blood
21	chr14:65487200-65498400	Weak transcription	Fetal Heart	heart
22	chr14:65487400-65505800	Weak transcription	HSMMtube	muscle
23	chr14:65488400-65502800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:65488800-65497800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:65489000-65507600	Weak transcription	Lung	lung
26	chr14:65489200-65514000	Weak transcription	Small Intestine	intestine
27	chr14:65489600-65501400	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:65491600-65502400	Strong transcription	Primary T cells from cord blood	blood
29	chr14:65491800-65501400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:65492600-65497200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:65492600-65497200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:65492600-65499200	Weak transcription	Psoas Muscle	Psoas
33	chr14:65492600-65500400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr14:65492800-65497400	Strong transcription	Thymus	Thymus
35	chr14:65492800-65501000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:65492800-65505000	Strong transcription	Fetal Stomach	stomach
37	chr14:65493000-65496200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:65493000-65497200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:65493000-65501600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:65493000-65521400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:65493200-65497200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:65493200-65497400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:65493200-65497400	Strong transcription	Aorta	Aorta
44	chr14:65493200-65498800	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:65493200-65501800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:65493400-65496000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:65493400-65497000	Strong transcription	Primary B cells from cord blood	blood
48	chr14:65493400-65497800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:65493400-65500200	Strong transcription	Fetal Thymus	thymus
50	chr14:65493400-65508200	Weak transcription	Colonic Mucosa	Colon

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