Variant report

Variant	rs11620955
Chromosome Location	chr14:65491255-65491256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:65491160-65491310	GM06990	blood:	n/a	n/a

Variant related genes	Relation type
FNTB	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11627531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11628273	1.00[CEU][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12435835	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12587257	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4466998	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4586342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4605081	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4899159	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]
rs7148590	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155275	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7155454	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs726668	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]
rs8006419	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8012008	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11620955	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx
rs11620955	RAB15	Cis_1M	lymphoblastoid	RTeQTL
rs11620955	CHURC1	cis	multi-tissue	Pritchard
rs11620955	SYNE2	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 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	chr14:65467800-65494200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:65471000-65494000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:65473400-65501400	Weak transcription	NHLF	lung
10	chr14:65473800-65513800	Weak transcription	HMEC	breast
11	chr14:65474000-65494200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:65474200-65494400	Weak transcription	NH-A	brain
13	chr14:65474400-65494800	Weak transcription	NHDF-Ad	bronchial
14	chr14:65475200-65509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:65475800-65501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:65477200-65491800	Weak transcription	Psoas Muscle	Psoas
17	chr14:65477200-65493200	Weak transcription	Aorta	Aorta
18	chr14:65478600-65491800	Weak transcription	NHEK	skin
19	chr14:65479400-65492400	Weak transcription	Colonic Mucosa	Colon
20	chr14:65479800-65493800	Weak transcription	HSMM	muscle
21	chr14:65480000-65507400	Weak transcription	Gastric	stomach
22	chr14:65480200-65493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:65480200-65499000	Weak transcription	Fetal Brain Male	brain
24	chr14:65480800-65507400	Weak transcription	Hela-S3	cervix
25	chr14:65481600-65493400	Weak transcription	Right Ventricle	heart
26	chr14:65482800-65494400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:65482800-65495800	Weak transcription	HUVEC	blood vessel
28	chr14:65483000-65493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:65483000-65494000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:65483400-65493600	Weak transcription	Pancreas	Pancrea
31	chr14:65483400-65493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:65483600-65491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:65483600-65491800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:65483600-65492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:65483600-65492400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:65483600-65492400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:65483600-65492800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:65483600-65493400	Weak transcription	Primary B cells from cord blood	blood
40	chr14:65483600-65493600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:65483600-65493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:65483600-65493600	Weak transcription	Spleen	Spleen
43	chr14:65483600-65493600	Weak transcription	Osteobl	bone
44	chr14:65483600-65493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:65483600-65493800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:65483600-65494000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:65483600-65494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:65483600-65494000	Weak transcription	Adipose Nuclei	Adipose
49	chr14:65483600-65494000	Weak transcription	Brain Anterior Caudate	brain
50	chr14:65483600-65494200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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