Variant report

Variant	rs11622550
Chromosome Location	chr14:65517106-65517107
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	chr14:65516810..65519484-chr14:65534795..65537184,2	MCF-7	breast:
2	chr14:65512105..65513694-chr14:65515325..65517952,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11624169	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11627382	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11627757	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36045499	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783715	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3783720	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3783721	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4899160	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7160037	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11622550	CHURC1	cis	Thyroid	GTEx
rs11622550	CHURC1	cis	Artery Tibial	GTEx
rs11622550	CHURC1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:65493000-65521400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:65496800-65521200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
8	chr14:65502000-65521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:65502400-65523400	Weak transcription	Right Atrium	heart
10	chr14:65506000-65518000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:65508200-65530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:65508400-65521200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:65508400-65527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:65508400-65527800	Weak transcription	Colonic Mucosa	Colon
15	chr14:65508400-65528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:65508600-65530800	Weak transcription	NHDF-Ad	bronchial
17	chr14:65508600-65542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:65508800-65521400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:65509400-65521000	Weak transcription	NHLF	lung
20	chr14:65509600-65528000	Weak transcription	Fetal Kidney	kidney
21	chr14:65510000-65521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:65510200-65519200	Weak transcription	Brain Angular Gyrus	brain
23	chr14:65510200-65521000	Weak transcription	A549	lung
24	chr14:65510200-65527800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:65511400-65519600	Weak transcription	Esophagus	oesophagus
26	chr14:65511400-65519600	Weak transcription	Dnd41	blood
27	chr14:65511400-65521000	Weak transcription	HSMMtube	muscle
28	chr14:65511400-65521200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:65511600-65519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:65511600-65519600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:65511600-65519600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:65511600-65519600	Weak transcription	Gastric	stomach
33	chr14:65511600-65519600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:65511600-65519800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:65511600-65519800	Weak transcription	Placenta	Placenta
36	chr14:65511600-65519800	Weak transcription	Lung	lung
37	chr14:65511600-65519800	Weak transcription	Ovary	ovary
38	chr14:65511600-65521200	Weak transcription	Brain Substantia Nigra	brain
39	chr14:65511600-65521200	Weak transcription	Pancreas	Pancrea
40	chr14:65511600-65521400	Weak transcription	Osteobl	bone
41	chr14:65511600-65528600	Weak transcription	NH-A	brain
42	chr14:65511800-65527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:65512000-65519600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:65512000-65519600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:65512000-65519600	Weak transcription	Aorta	Aorta
46	chr14:65512000-65519600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:65512000-65519800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:65512000-65519800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:65512000-65519800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:65512000-65521000	Weak transcription	Spleen	Spleen

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