Variant report

Variant	rs2285595
Chromosome Location	chr12:120156408-120156409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120156359-120156409	HCPEpiC	choroid plexus:	n/a
2	chr12:120156359-120156409	RPTEC	kidney:	n/a
3	chr12:120156359-120156409	GM06990	blood:	n/a
4	chr12:120156359-120156409	AG04450	lung:	fetal
5	chr12:120156359-120156409	HAEpiC	amniotic membrane:	n/a
6	chr12:120156359-120156409	HCM	heart:	n/a
7	chr12:120156359-120156409	U87	brain:	n/a
8	chr12:120156359-120156409	Jurkat	blood:	n/a
9	chr12:120156359-120156409	HCT-116	colon:	n/a
10	chr12:120156359-120156409	PANC-1	pancreas:	n/a
11	chr12:120156359-120156409	A549	lung:	n/a
12	chr12:120156359-120156409	SKMC	muscle:	n/a
13	chr12:120156359-120156409	Caco-2	colon:	n/a
14	chr12:120156359-120156409	ECC-1	luminal epithelium:	n/a
15	chr12:120156359-120156409	HUVEC	blood vessel:	n/a
16	chr12:120156359-120156409	HepG2	liver:	n/a
17	chr12:120156359-120156409	PFSK-1	brain:	n/a
18	chr12:120156359-120156409	ProgFib	skin:	n/a
19	chr12:120156359-120156409	BJ	skin:	n/a
20	chr12:120156359-120156409	HIPEpiC	eye:	n/a
21	chr12:120156359-120156409	GM12878	blood:	n/a
22	chr12:120156359-120156409	H1-hESC	embryonic stem cell:	embryo
23	chr12:120156359-120156409	HRE	kidney:	n/a
24	chr12:120156359-120156409	NB4	blood:	n/a
25	chr12:120156359-120156409	AG09319	gingival:	n/a
26	chr12:120156359-120156409	HRCEpiC	kidney:	n/a
27	chr12:120156359-120156409	LNCaP	prostate:	n/a
28	chr12:120156359-120156409	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:120156359-120156409	SK-N-SH	brain:	n/a
30	chr12:120156359-120156409	T-47D	breast:	n/a
31	chr12:120156359-120156409	PrEC	prostate:	n/a
32	chr12:120156359-120156409	GM12891	blood:	n/a
33	chr12:120156359-120156409	HMEC	breast:	n/a
34	chr12:120156359-120156409	SK-N-SH_RA	brain:	n/a
35	chr12:120156359-120156409	GM19239	blood:	n/a
36	chr12:120156359-120156409	HEK293	kidney:	embryo
37	chr12:120156359-120156409	NHDF-neo	bronchial:	n/a
38	chr12:120156359-120156409	AG10803	skin:	n/a
39	chr12:120156359-120156409	AG04449	skin:	fetal
40	chr12:120156359-120156409	GM12892	blood:	n/a
41	chr12:120156359-120156409	K562	blood:	n/a
42	chr12:120156359-120156409	HCF	heart:	n/a
43	chr12:120156359-120156409	NT2-D1	testis:	n/a
44	chr12:120156359-120156409	HNPCEpiC	eye:	n/a
45	chr12:120156359-120156409	AG09309	skin:	n/a
46	chr12:120156359-120156409	CMK	blood:	n/a
47	chr12:120156359-120156409	HRPEpiC	eye:	n/a
48	chr12:120156359-120156409	ovcar-3	ovarian:	n/a
49	chr12:120156359-120156409	HEEpiC	esophagus:	n/a
50	chr12:120156359-120156409	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120147560..120151700-chr12:120152140..120156829,4	MCF-7	breast:

No data

Variant related genes	Relation type
CIT	CpG island
MIR1178	CpG island
ENSG00000122966	Chromatin interaction
ENSG00000221323	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10849691	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849692	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11064884	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12296121	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1318272	0.89[CEU][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs175877	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs175879	0.83[CHB][hapmap]
rs202983	0.82[MKK][hapmap]
rs202984	0.86[ASN][1000 genomes]
rs202985	0.83[CHB][hapmap]
rs203326	0.83[CHB][hapmap]
rs203327	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs203329	0.85[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.80[TSI][hapmap]
rs203330	0.85[CEU][hapmap]
rs203331	0.83[CHB][hapmap]
rs203332	0.80[CHD][hapmap]
rs2074052	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs278102	0.82[MKK][hapmap]
rs278108	0.91[CHB][hapmap]
rs278109	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs278111	0.89[ASN][1000 genomes]
rs278115	0.88[ASN][1000 genomes]
rs278117	0.86[ASN][1000 genomes]
rs278118	0.86[ASN][1000 genomes]
rs278126	0.86[YRI][hapmap]
rs278128	0.83[CHB][hapmap]
rs278129	0.83[CHB][hapmap]
rs278130	0.83[CHB][hapmap]
rs278131	0.83[CHB][hapmap]
rs278135	0.83[CHB][hapmap]
rs278137	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs278141	0.84[ASN][1000 genomes]
rs278142	0.87[CHB][hapmap]
rs2936830	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936831	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936832	0.87[ASN][1000 genomes]
rs2952403	0.80[ASN][1000 genomes]
rs2952444	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap]
rs2996027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2996028	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2996029	0.96[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2996030	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35070805	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3956827	0.84[EUR][1000 genomes]
rs402811	0.84[ASN][1000 genomes]
rs404447	0.86[ASN][1000 genomes]
rs4766946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766947	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767839	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767841	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490269	0.82[CEU][hapmap]
rs7131914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132952	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7299963	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303046	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7961569	0.96[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs904654	0.85[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs904655	0.96[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2285595	FBXW8	cis	parietal	SCAN
rs2285595	MLXIP	cis	cerebellum	SCAN
rs2285595	WSB2	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:120123400-120182000	Strong transcription	Dnd41	blood
6	chr12:120126600-120158000	Weak transcription	Colonic Mucosa	Colon
7	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:120131200-120161600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:120132800-120162000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:120137000-120159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:120139600-120159600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:120141000-120159600	Strong transcription	Fetal Thymus	thymus
13	chr12:120143600-120160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:120143800-120159800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:120143800-120160800	Strong transcription	Thymus	Thymus
16	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
17	chr12:120144200-120160000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:120144400-120160200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:120144600-120159800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:120144800-120159400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:120145000-120158200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:120145000-120168600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:120148400-120163400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:120151600-120196600	Weak transcription	Gastric	stomach
26	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
27	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:120152600-120165200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:120152800-120159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:120153400-120158000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:120154000-120177200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:120154800-120156600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:120154800-120156800	Weak transcription	Fetal Lung	lung
34	chr12:120154800-120157400	Weak transcription	Psoas Muscle	Psoas
35	chr12:120154800-120157400	Weak transcription	GM12878-XiMat	blood
36	chr12:120154800-120157400	Weak transcription	K562	blood
37	chr12:120154800-120157600	Strong transcription	Fetal Stomach	stomach
38	chr12:120154800-120157600	Weak transcription	HSMMtube	muscle
39	chr12:120154800-120158000	Strong transcription	A549	lung
40	chr12:120154800-120158400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:120154800-120158800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:120154800-120160200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:120154800-120164000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:120154800-120165800	Weak transcription	NHEK	skin
45	chr12:120154800-120167400	Weak transcription	HMEC	breast
46	chr12:120154800-120170600	Weak transcription	Fetal Kidney	kidney
47	chr12:120154800-120171400	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:120154800-120173400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:120154800-120174600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:120154800-120186000	Weak transcription	NH-A	brain

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