Variant report

Variant	rs2147963
Chromosome Location	chr14:55564473-55564474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55564337..55568132-chr14:55580287..55582932,3	MCF-7	breast:
2	chr14:55562349..55566055-chr14:55567766..55570193,3	K562	blood:
3	chr14:55559019..55561497-chr14:55562347..55564712,2	K562	blood:
4	chr14:55550357..55576811-chr14:55577745..55605179,160	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10873087	0.84[ASN][1000 genomes]
rs11158030	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158031	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11622128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625204	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11626816	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11627884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11845087	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11845948	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11851178	0.86[JPT][hapmap]
rs1187873	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1187874	0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1187876	0.86[JPT][hapmap]
rs1187878	0.86[JPT][hapmap]
rs1212641	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17128132	0.86[JPT][hapmap]
rs17128145	0.92[JPT][hapmap]
rs17253633	0.86[CHB][hapmap]
rs1952085	0.86[JPT][hapmap]
rs2340943	0.85[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55843949	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61178993	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66962212	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66999765	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67652508	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67870023	0.94[ASN][1000 genomes]
rs7144226	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149965	0.87[JPT][hapmap]
rs7150145	0.87[JPT][hapmap]
rs7157678	0.94[ASN][1000 genomes]
rs7494066	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015165	0.94[ASN][1000 genomes]
rs8016295	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9671895	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2147963	C14orf32	Cis_1M	lymphoblastoid	RTeQTL
rs2147963	MAPK1IP1L	cis	Cerebellum	GTEx
rs2147963	C14orf32	cis	normal skin	skin_eQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55551400-55564800	Weak transcription	Right Atrium	heart
2	chr14:55557800-55568600	Weak transcription	Fetal Heart	heart
3	chr14:55559200-55569000	Weak transcription	Esophagus	oesophagus
4	chr14:55560600-55569200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:55561200-55568000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:55561600-55564600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:55561600-55565000	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:55561800-55564600	Weak transcription	A549	lung
9	chr14:55561800-55564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:55561800-55568400	Weak transcription	HMEC	breast
11	chr14:55561800-55568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:55562000-55564600	Weak transcription	NHDF-Ad	bronchial
13	chr14:55562000-55564800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:55562000-55564800	Weak transcription	NH-A	brain
15	chr14:55562000-55566400	Weak transcription	NHLF	lung
16	chr14:55562000-55566600	Weak transcription	Osteobl	bone
17	chr14:55562000-55568800	Weak transcription	HSMM	muscle
18	chr14:55562400-55565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:55562400-55565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:55563600-55564600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:55563600-55565200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:55563600-55565600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:55563800-55564600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:55563800-55564600	Enhancers	GM12878-XiMat	blood
25	chr14:55563800-55565200	Enhancers	Adipose Nuclei	Adipose
26	chr14:55563800-55565800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:55563800-55567200	Enhancers	Placenta	Placenta
28	chr14:55564000-55564800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr14:55564000-55565200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:55564000-55565600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:55564000-55565600	Enhancers	Fetal Intestine Large	intestine
32	chr14:55564000-55565600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:55564000-55565600	Enhancers	Small Intestine	intestine
34	chr14:55564000-55565800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr14:55564000-55566000	Enhancers	Duodenum Mucosa	Duodenum
36	chr14:55564000-55566800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr14:55564000-55569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:55564000-55569200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:55564000-55570200	Enhancers	Stomach Mucosa	stomach
40	chr14:55564200-55564600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr14:55564200-55564600	Weak transcription	Colonic Mucosa	Colon
42	chr14:55564200-55565000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:55564200-55565000	Enhancers	Colon Smooth Muscle	Colon
44	chr14:55564200-55565200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:55564200-55565200	Enhancers	NHEK	skin
46	chr14:55564200-55565400	Enhancers	Hela-S3	cervix
47	chr14:55564200-55565600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr14:55564200-55565600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:55564200-55565800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:55564200-55565800	Enhancers	Rectal Mucosa Donor 31	rectum

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