Variant report

Variant	rs4951523
Chromosome Location	chr1:211530044-211530045
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211527896..211530358-chr1:211538566..211540580,2	K562	blood:
2	chr1:211528873..211531337-chr1:211538922..211541728,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10449313	0.88[EUR][1000 genomes]
rs10494936	0.81[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs1055565	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs1084981	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10863884	0.82[EUR][1000 genomes]
rs10863888	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863895	0.82[EUR][1000 genomes]
rs11119716	0.81[EUR][1000 genomes]
rs11580084	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs11811405	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs12027724	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs12116749	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12118279	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap]
rs12403576	0.81[EUR][1000 genomes]
rs1533217	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1663522	0.96[CEU][hapmap];0.80[CHB][hapmap];0.88[CHD][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2063569	0.80[EUR][1000 genomes]
rs2292483	0.81[JPT][hapmap];0.91[YRI][hapmap];0.84[ASN][1000 genomes]
rs2798559	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2920908	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2920911	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3002258	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3111257	0.85[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs3111258	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap]
rs3738199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3767377	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs3767378	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs4366377	0.81[EUR][1000 genomes]
rs4406705	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs4951520	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs4951522	0.81[JPT][hapmap];0.91[YRI][hapmap];0.84[ASN][1000 genomes]
rs4951736	0.82[EUR][1000 genomes]
rs4951741	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951742	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951744	0.81[JPT][hapmap];0.91[YRI][hapmap];0.84[ASN][1000 genomes]
rs4951745	0.81[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs6667740	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6682599	0.84[ASN][1000 genomes]
rs6684874	0.81[JPT][hapmap];0.91[YRI][hapmap];0.84[ASN][1000 genomes]
rs6689078	0.81[CHB][hapmap]
rs6696938	0.86[EUR][1000 genomes]
rs6700747	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap]
rs6703361	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7520989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs7538692	0.87[EUR][1000 genomes]
rs7550702	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];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs784369	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784379	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.83[LWK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784382	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784383	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784385	0.91[CEU][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs784389	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4951523	C1orf74	cis	parietal	SCAN
rs4951523	C1orf97	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211505000-211530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:211509800-211544200	Weak transcription	HUVEC	blood vessel
3	chr1:211510600-211555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:211511600-211533000	Weak transcription	Left Ventricle	heart
5	chr1:211514800-211552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:211515000-211555000	Weak transcription	Hela-S3	cervix
7	chr1:211515000-211555800	Weak transcription	Esophagus	oesophagus
8	chr1:211515200-211543200	Weak transcription	Colonic Mucosa	Colon
9	chr1:211515400-211548400	Weak transcription	Stomach Mucosa	stomach
10	chr1:211519400-211549000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:211519800-211532400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:211519800-211532400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:211519800-211544800	Weak transcription	Fetal Kidney	kidney
14	chr1:211519800-211547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:211519800-211548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:211520800-211533800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:211521200-211530200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:211521200-211550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:211521600-211555200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:211523600-211542800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:211525000-211555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:211525400-211532400	Weak transcription	A549	lung
23	chr1:211525400-211550200	Weak transcription	NHDF-Ad	bronchial
24	chr1:211525400-211555000	Weak transcription	Fetal Lung	lung
25	chr1:211525600-211548200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:211525600-211550200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:211526400-211542200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:211526400-211546400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:211526600-211531400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:211526600-211534800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr1:211526600-211555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:211526800-211550800	Weak transcription	Small Intestine	intestine
33	chr1:211527000-211530200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:211527000-211530600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:211527000-211530600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:211527000-211531400	Strong transcription	GM12878-XiMat	blood
37	chr1:211527200-211531000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr1:211527400-211535400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:211527400-211550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:211527600-211532800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:211527800-211532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:211527800-211535000	Strong transcription	Primary B cells from cord blood	blood
43	chr1:211528000-211535400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:211528000-211551400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:211528200-211550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:211528400-211547600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:211528600-211530400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:211528600-211530400	Strong transcription	Aorta	Aorta
49	chr1:211528600-211531000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:211528600-211533000	Strong transcription	Primary T cells fromperipheralblood	blood

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