Variant report

Variant	rs4141737
Chromosome Location	chr1:94344110-94344111
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94336837..94340766-chr1:94341847..94346212,6	K562	blood:
2	chr1:94332079..94335914-chr1:94341026..94344306,4	K562	blood:
3	chr1:94343199..94347658-chr1:94372955..94376562,9	MCF-7	breast:
4	chr1:94337347..94339597-chr1:94344098..94346567,2	MCF-7	breast:
5	chr1:93809215..93811545-chr1:94343496..94345279,2	K562	blood:
6	chr1:94311992..94315197-chr1:94341852..94346150,3	MCF-7	breast:
7	chr1:94312180..94314378-chr1:94343204..94344804,3	K562	blood:
8	chr1:94344082..94344904-chr1:156470208..156471411,3	Hela-S3	cervix:
9	chr1:94342014..94348814-chr1:94369991..94376733,14	K562	blood:
10	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
11	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000067334	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000116604	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000117505	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10489602	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10489603	0.93[GIH][hapmap];0.82[EUR][1000 genomes]
rs10489604	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10782966	0.85[EUR][1000 genomes]
rs10782967	0.85[EUR][1000 genomes]
rs11165020	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165022	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs11165024	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165026	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs12027630	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12041975	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs12122113	0.87[EUR][1000 genomes]
rs12134359	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs12137687	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12140446	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12143274	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12143279	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12563731	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565614	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12565817	0.89[GIH][hapmap]
rs12566531	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12734571	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12739186	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12745990	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12752298	0.88[EUR][1000 genomes]
rs1398798	0.96[CEU][hapmap];0.91[JPT][hapmap]
rs1884018	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980083	0.81[CEU][hapmap]
rs2143990	0.86[EUR][1000 genomes]
rs2143992	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs2235971	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273166	0.89[CHB][hapmap]
rs2391315	0.82[JPT][hapmap]
rs2391322	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2747039	0.85[EUR][1000 genomes]
rs2747041	0.85[EUR][1000 genomes]
rs2747043	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747045	0.96[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747050	0.84[EUR][1000 genomes]
rs2818160	0.85[EUR][1000 genomes]
rs2818162	0.85[EUR][1000 genomes]
rs2818164	0.86[EUR][1000 genomes]
rs2818169	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3000471	0.86[EUR][1000 genomes]
rs3747965	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075523	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs4141736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240955	0.85[EUR][1000 genomes]
rs4240956	1.00[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs4314890	0.85[EUR][1000 genomes]
rs4350209	0.86[ASW][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap]
rs4847253	0.81[EUR][1000 genomes]
rs4847256	0.85[CEU][hapmap]
rs4847264	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs4847265	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6664719	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681265	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs6685747	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7364910	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8179391	0.85[EUR][1000 genomes]
rs871854	0.81[EUR][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs4141737	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs4141737	RP11-488P3.1	cis	Thyroid	GTEx
rs4141737	RP11-488P3.1	cis	Stomach	GTEx
rs4141737	RP11-488P3.1	cis	Nerve Tibial	GTEx
rs4141737	RP11-488P3.1	cis	Artery Tibial	GTEx
rs4141737	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs4141737	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs4141737	RP11-488P3.1	cis	lung	GTEx
rs4141737	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx
rs4141737	RP11-488P3.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94341800-94344600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr1:94342800-94345800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:94343000-94345000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:94343400-94344200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr1:94343400-94344200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr1:94343400-94344200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:94343400-94344200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:94343400-94344400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr1:94343400-94344400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:94343400-94345000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr1:94343400-94345400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:94343400-94345400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:94343400-94345400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:94343400-94345400	Active TSS	Right Ventricle	heart
15	chr1:94343400-94345600	Active TSS	Psoas Muscle	Psoas
16	chr1:94343400-94345800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:94343400-94345800	Active TSS	A549	lung
18	chr1:94343600-94344200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:94343600-94344200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:94343600-94344200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr1:94343600-94344200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:94343600-94344200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:94343600-94344200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:94343600-94344200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr1:94343600-94344200	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr1:94343600-94344200	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr1:94343600-94344200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr1:94343600-94344200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:94343600-94344200	Flanking Active TSS	HUVEC	blood vessel
30	chr1:94343600-94344200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:94343600-94344400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:94343600-94344400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:94343600-94344400	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr1:94343600-94344800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:94343600-94345000	Active TSS	HSMMtube	muscle
36	chr1:94343600-94345200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:94343600-94345200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:94343600-94345200	Active TSS	Fetal Brain Female	brain
39	chr1:94343600-94345200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:94343600-94345400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:94343600-94345400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:94343600-94345400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:94343600-94345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr1:94343600-94345400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:94343600-94345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:94343600-94345400	Active TSS	Colonic Mucosa	Colon
47	chr1:94343600-94345400	Active TSS	K562	blood
48	chr1:94343600-94345600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:94343600-94345600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:94343800-94344200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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