Variant report

Variant	rs1212641
Chromosome Location	chr14:55496131-55496132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55487600..55490448-chr14:55495324..55498182,2	K562	blood:
2	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
3	chr14:55495289..55498964-chr14:55511770..55513714,3	K562	blood:
4	chr14:55496045..55499336-chr14:55516853..55522052,5	MCF-7	breast:
5	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
6	chr14:55491921..55500295-chr14:55515389..55520812,24	K562	blood:
7	chr14:55492926..55495338-chr14:55495422..55498220,2	K562	blood:
8	chr14:55491992..55498342-chr14:55515529..55520367,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000180008	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1002054	0.81[CHB][hapmap]
rs11158030	0.80[ASN][1000 genomes]
rs11158031	0.80[ASN][1000 genomes]
rs11622128	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11625204	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11626816	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11627884	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11845087	0.82[ASN][1000 genomes]
rs11849090	0.80[ASN][1000 genomes]
rs11851178	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1187873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1187874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1187876	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1187878	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17128128	0.85[ASN][1000 genomes]
rs17128132	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs17128145	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1952085	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2147963	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2251366	0.81[CHB][hapmap]
rs2340943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55843949	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60805089	0.85[ASN][1000 genomes]
rs61178993	0.85[ASN][1000 genomes]
rs6573000	0.84[ASN][1000 genomes]
rs66962212	0.85[ASN][1000 genomes]
rs66999765	0.84[ASN][1000 genomes]
rs67652508	0.85[ASN][1000 genomes]
rs67870023	0.82[ASN][1000 genomes]
rs7141975	0.84[ASN][1000 genomes]
rs7149965	0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7150145	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7157678	0.82[ASN][1000 genomes]
rs7494066	0.85[ASN][1000 genomes]
rs8015165	0.82[ASN][1000 genomes]
rs8016295	0.85[ASN][1000 genomes]
rs9671895	1.00[CHB][hapmap];1.00[JPT][hapmap];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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1212641	C14orf32	Cis_1M	lymphoblastoid	RTeQTL
rs1212641	MAPK1IP1L	cis	Cerebellum	GTEx
rs1212641	MAPK1IP1L	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55492000-55496200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:55492000-55496400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:55492400-55496800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:55492800-55496400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:55492800-55496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:55492800-55498400	Active TSS	GM12878-XiMat	blood
7	chr14:55493200-55496200	Active TSS	Right Atrium	heart
8	chr14:55493400-55496200	Active TSS	NHLF	lung
9	chr14:55494400-55509800	Weak transcription	Spleen	Spleen
10	chr14:55494400-55517600	Weak transcription	Lung	lung
11	chr14:55494600-55496200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:55494600-55509800	Weak transcription	Gastric	stomach
13	chr14:55494800-55496200	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:55494800-55496200	Enhancers	Stomach Mucosa	stomach
15	chr14:55494800-55496800	Flanking Active TSS	Dnd41	blood
16	chr14:55494800-55501800	Weak transcription	Placenta	Placenta
17	chr14:55495000-55496400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:55495000-55496400	Flanking Active TSS	Hela-S3	cervix
19	chr14:55495000-55496800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:55495000-55496800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr14:55495000-55497000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:55495000-55498600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:55495000-55499200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:55495000-55501800	Weak transcription	Left Ventricle	heart
25	chr14:55495000-55509800	Weak transcription	Ovary	ovary
26	chr14:55495000-55517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:55495000-55517600	Weak transcription	Esophagus	oesophagus
28	chr14:55495200-55496200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:55495200-55496200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:55495200-55496200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:55495200-55496200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr14:55495200-55496400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr14:55495200-55496400	Flanking Active TSS	NH-A	brain
34	chr14:55495200-55496600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:55495200-55496800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:55495200-55496800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:55495200-55498600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:55495200-55498600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:55495200-55499000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:55495200-55500600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:55495200-55500600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr14:55495200-55501600	Weak transcription	Fetal Intestine Large	intestine
43	chr14:55495200-55502000	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:55495200-55504800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:55495200-55504800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:55495200-55507600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:55495200-55509800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:55495200-55510400	Weak transcription	Psoas Muscle	Psoas
49	chr14:55495200-55517600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:55495200-55517600	Weak transcription	Colonic Mucosa	Colon

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