Variant report

Variant	rs8012397
Chromosome Location	chr14:55596222-55596223
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
2	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
3	chr14:55595145..55596943-chr14:60714507..60716097,2	MCF-7	breast:
4	chr14:55595591..55597639-chr14:69257922..69259895,2	MCF-7	breast:
5	chr14:55492412..55494140-chr14:55594962..55596941,2	MCF-7	breast:
6	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
7	chr11:82868011..82868911-chr14:55596141..55596833,2	Hela-S3	cervix:
8	chr11:64019275..64020106-chr14:55596076..55597013,2	Hela-S3	cervix:
9	chr14:55587248..55591020-chr14:55595215..55599629,4	K562	blood:
10	chr14:55517037..55520851-chr14:55594266..55601656,13	MCF-7	breast:
11	chr14:55595590..55596242-chrX:77359584..77360110,2	Hela-S3	cervix:
12	chr14:55594568..55597255-chr20:45984392..45987223,2	MCF-7	breast:
13	chr14:55518233..55518869-chr14:55596175..55597055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102144	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000254718	Chromatin interaction
ENSG00000165494	Chromatin interaction
ENSG00000100614	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000131979	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000180008	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1009977	0.88[ASW][hapmap]
rs10130894	1.00[CHB][hapmap]
rs10134983	0.85[EUR][1000 genomes]
rs10144326	0.85[EUR][1000 genomes]
rs10144869	0.82[CHD][hapmap]
rs10146943	1.00[CHB][hapmap]
rs10498474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10498475	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11125	0.81[EUR][1000 genomes]
rs11845848	0.85[EUR][1000 genomes]
rs11850516	0.83[ASN][1000 genomes]
rs11851945	0.80[ASN][1000 genomes]
rs13379158	0.85[EUR][1000 genomes]
rs17128230	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17128262	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17128275	0.80[ASN][1000 genomes]
rs17128277	0.80[ASN][1000 genomes]
rs17128292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17128303	0.82[CHD][hapmap]
rs17128370	1.00[CHB][hapmap]
rs17671923	1.00[CEU][hapmap]
rs17672376	1.00[CEU][hapmap]
rs17672950	1.00[CEU][hapmap]
rs17740413	1.00[CEU][hapmap]
rs1886784	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs2075598	0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2094103	0.85[EUR][1000 genomes]
rs2274271	0.89[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2274272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2340930	0.82[EUR][1000 genomes]
rs28408795	0.80[ASN][1000 genomes]
rs28436894	0.80[ASN][1000 genomes]
rs28681113	0.80[ASN][1000 genomes]
rs3759666	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs55772085	0.83[ASN][1000 genomes]
rs55848305	0.83[ASN][1000 genomes]
rs56192604	0.80[ASN][1000 genomes]
rs56358335	0.83[ASN][1000 genomes]
rs57064758	0.83[ASN][1000 genomes]
rs57196783	0.83[ASN][1000 genomes]
rs57750925	0.83[ASN][1000 genomes]
rs58737648	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573004	0.83[ASN][1000 genomes]
rs6573008	0.80[CEU][hapmap]
rs7141563	0.80[ASN][1000 genomes]
rs7141706	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs7147666	0.80[ASN][1000 genomes]
rs7148663	1.00[CHB][hapmap]
rs7148957	0.83[ASN][1000 genomes]
rs7149385	0.80[ASN][1000 genomes]
rs7150083	0.80[ASN][1000 genomes]
rs7152543	0.80[ASN][1000 genomes]
rs7153322	0.80[ASN][1000 genomes]
rs7154368	0.80[ASN][1000 genomes]
rs7155936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7156997	0.80[ASN][1000 genomes]
rs7157000	0.80[ASN][1000 genomes]
rs7157585	0.80[ASN][1000 genomes]
rs7158989	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7159490	0.89[CEU][hapmap];0.86[TSI][hapmap]
rs7159530	0.83[ASN][1000 genomes]
rs7160110	0.88[ASW][hapmap]
rs7160411	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7161564	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs72716670	0.80[ASN][1000 genomes]
rs74050921	0.83[ASN][1000 genomes]
rs74050928	0.83[ASN][1000 genomes]
rs74050932	0.80[ASN][1000 genomes]
rs8004899	0.80[ASN][1000 genomes]
rs8005218	0.80[ASN][1000 genomes]
rs8009060	0.80[ASN][1000 genomes]
rs8009181	1.00[CHB][hapmap];0.87[CHD][hapmap];0.80[ASN][1000 genomes]
rs8010751	0.80[ASN][1000 genomes]
rs8010791	0.80[ASN][1000 genomes]
rs8010993	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8011980	0.83[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8012397	MAPK1IP1L	cis	cerebellum	SCAN
rs8012397	FBXO34	cis	cerebellum	SCAN
rs8012397	L2HGDH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55593000-55596400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:55593200-55597800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr14:55595200-55596600	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr14:55595200-55596800	Active TSS	Fetal Intestine Large	intestine
5	chr14:55595200-55596800	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr14:55595200-55596800	Active TSS	NH-A	brain
7	chr14:55595200-55598400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:55595400-55596800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:55595400-55596800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:55595400-55596800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:55595400-55596800	Active TSS	Stomach Smooth Muscle	stomach
12	chr14:55595400-55597000	Active TSS	A549	lung
13	chr14:55595400-55597200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:55595400-55597200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr14:55595400-55597400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:55595400-55597400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:55595400-55597600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:55595400-55597600	Active TSS	NHDF-Ad	bronchial
19	chr14:55595400-55597800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:55595400-55606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:55595600-55596400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:55595600-55596400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:55595600-55596400	Active TSS	Primary B cells from peripheral blood	blood
24	chr14:55595600-55596400	Active TSS	Placenta	Placenta
25	chr14:55595600-55596400	Active TSS	HUVEC	blood vessel
26	chr14:55595600-55596400	Active TSS	K562	blood
27	chr14:55595600-55596600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr14:55595600-55596600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:55595600-55596600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr14:55595600-55596600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:55595600-55596600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr14:55595600-55596600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:55595600-55596600	Active TSS	Adipose Nuclei	Adipose
34	chr14:55595600-55596600	Active TSS	Brain Cingulate Gyrus	brain
35	chr14:55595600-55596600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr14:55595600-55596600	Active TSS	Colon Smooth Muscle	Colon
37	chr14:55595600-55596600	Active TSS	Duodenum Mucosa	Duodenum
38	chr14:55595600-55596600	Weak transcription	Fetal Heart	heart
39	chr14:55595600-55596600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr14:55595600-55596600	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr14:55595600-55596800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:55595600-55596800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr14:55595600-55596800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:55595600-55596800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr14:55595600-55596800	Bivalent/Poised TSS	HepG2	liver
46	chr14:55595600-55596800	Active TSS	Osteobl	bone
47	chr14:55595600-55597000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:55595600-55597000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:55595600-55597000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr14:55595600-55597000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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