Variant report

Variant	rs4899159
Chromosome Location	chr14:65480595-65480596
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	chr14:65480253..65482376-chr14:65482533..65484842,2	K562	blood:
2	chr14:65453059..65456950-chr14:65478988..65484020,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10142987	0.81[YRI][hapmap]
rs11620955	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628273	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12435835	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12587257	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4466998	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4586342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4605081	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148590	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7155275	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7155454	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs726668	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]
rs8006419	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8012008	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4899159	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs4899159	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65482800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
3	chr14:65457600-65499800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:65459400-65508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:65467800-65494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:65468200-65486800	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:65469800-65481000	Weak transcription	Fetal Lung	lung
9	chr14:65469800-65482200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:65469800-65482800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:65470800-65484000	Strong transcription	HepG2	liver
13	chr14:65470800-65485400	Strong transcription	Fetal Stomach	stomach
14	chr14:65471000-65494000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:65471200-65486200	Strong transcription	Fetal Intestine Small	intestine
16	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:65471800-65486400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:65472400-65485000	Strong transcription	Fetal Intestine Large	intestine
19	chr14:65472800-65484400	Strong transcription	Primary T cells from cord blood	blood
20	chr14:65473400-65482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:65473400-65482400	Weak transcription	A549	lung
22	chr14:65473400-65482800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:65473400-65486400	Weak transcription	Fetal Kidney	kidney
24	chr14:65473400-65501400	Weak transcription	NHLF	lung
25	chr14:65473600-65482400	Weak transcription	HUVEC	blood vessel
26	chr14:65473800-65513800	Weak transcription	HMEC	breast
27	chr14:65474000-65481200	Strong transcription	Dnd41	blood
28	chr14:65474000-65494200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:65474200-65482400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:65474200-65494400	Weak transcription	NH-A	brain
31	chr14:65474400-65494800	Weak transcription	NHDF-Ad	bronchial
32	chr14:65474600-65485000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr14:65474800-65484000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:65474800-65486000	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:65475000-65485000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:65475200-65482800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:65475200-65509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:65475600-65484200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:65475800-65480600	Weak transcription	Left Ventricle	heart
40	chr14:65475800-65484200	Strong transcription	Liver	Liver
41	chr14:65475800-65501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:65476000-65483600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:65476000-65485000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:65476000-65485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:65476200-65482800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:65476400-65481600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr14:65477000-65483000	Weak transcription	HSMMtube	muscle
48	chr14:65477200-65482200	Weak transcription	Ovary	ovary
49	chr14:65477200-65491800	Weak transcription	Psoas Muscle	Psoas
50	chr14:65477200-65493200	Weak transcription	Aorta	Aorta

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