Variant report

Variant	rs12893404
Chromosome Location	chr14:65527122-65527123
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	chr14:65524935..65527160-chr14:65537438..65539192,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11158572	0.80[ASN][1000 genomes]
rs11158573	0.80[ASN][1000 genomes]
rs11158574	0.80[ASN][1000 genomes]
rs11625045	0.85[ASN][1000 genomes]
rs12880781	0.80[ASN][1000 genomes]
rs1953228	0.82[ASN][1000 genomes]
rs45604339	0.87[ASN][1000 genomes]
rs4902358	0.86[ASN][1000 genomes]
rs55658675	0.82[ASN][1000 genomes]
rs7143495	0.86[ASN][1000 genomes]
rs7144259	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154852	0.82[ASN][1000 genomes]
rs7161394	0.82[ASN][1000 genomes]
rs762810	0.87[ASN][1000 genomes]
rs8009396	0.80[ASN][1000 genomes]
rs8009714	0.80[ASN][1000 genomes]
rs8181937	0.82[ASN][1000 genomes]
rs8181938	0.82[ASN][1000 genomes]
rs8181939	0.82[ASN][1000 genomes]
rs884683	0.80[ASN][1000 genomes]
rs942627	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv2506970	chr14:65526275-65527816	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12893404	CHURC1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
5	chr14:65508200-65530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:65508400-65527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:65508400-65527800	Weak transcription	Colonic Mucosa	Colon
8	chr14:65508400-65528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:65508600-65530800	Weak transcription	NHDF-Ad	bronchial
10	chr14:65508600-65542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:65509600-65528000	Weak transcription	Fetal Kidney	kidney
12	chr14:65510200-65527800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:65511600-65528600	Weak transcription	NH-A	brain
14	chr14:65511800-65527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:65514600-65527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:65514600-65527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:65514600-65527600	Weak transcription	GM12878-XiMat	blood
18	chr14:65514800-65527800	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:65514800-65536200	Weak transcription	Small Intestine	intestine
20	chr14:65515200-65528000	Weak transcription	HUVEC	blood vessel
21	chr14:65515200-65528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:65515200-65530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:65515400-65527800	Weak transcription	Hela-S3	cervix
24	chr14:65515400-65527800	Weak transcription	NHEK	skin
25	chr14:65515600-65527800	Weak transcription	HMEC	breast
26	chr14:65517400-65527800	Weak transcription	Stomach Mucosa	stomach
27	chr14:65519600-65529000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr14:65521600-65527600	Weak transcription	NHLF	lung
29	chr14:65521800-65527600	Weak transcription	HSMM	muscle
30	chr14:65521800-65527800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:65521800-65527800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:65521800-65527800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:65521800-65527800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:65521800-65527800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:65521800-65527800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:65521800-65527800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:65521800-65527800	Weak transcription	Right Ventricle	heart
38	chr14:65521800-65528000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:65522000-65527600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:65522000-65527600	Weak transcription	A549	lung
41	chr14:65522000-65527800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:65522000-65527800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:65522000-65527800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:65522000-65527800	Weak transcription	Brain Angular Gyrus	brain
45	chr14:65522000-65527800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:65522000-65527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:65522000-65527800	Weak transcription	Lung	lung
48	chr14:65522000-65527800	Weak transcription	Ovary	ovary
49	chr14:65522000-65528000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:65522000-65528000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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