Variant report

Variant	rs4988226
Chromosome Location	chr2:136610598-136610599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:136610553-136611058	GM12892	blood:	n/a	n/a
2	POLR2A	chr2:136609788-136612423	K562	blood:	n/a	n/a

Variant related genes	Relation type
MCM6	TF binding region

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

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

rs_ID	r²[population]
rs1011361	1.00[CHB][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs10186843	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10202489	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs10207652	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11679508	0.85[YRI][hapmap]
rs11684545	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs12185712	0.86[CEU][hapmap];0.83[YRI][hapmap]
rs12615624	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs12620033	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12988076	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12994270	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs12998387	1.00[CHB][hapmap]
rs13404551	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1435576	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1438305	0.95[CHB][hapmap];0.85[YRI][hapmap]
rs1438307	0.95[CHB][hapmap];0.82[YRI][hapmap]
rs1446584	0.83[CEU][hapmap];0.82[YRI][hapmap]
rs1470457	0.82[EUR][1000 genomes]
rs160329	0.92[EUR][1000 genomes]
rs188680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs192822	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2034276	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs2164210	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs218174	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2236783	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2322660	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2322818	0.83[EUR][1000 genomes]
rs309125	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs309128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs309130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309134	0.83[CEU][hapmap]
rs309137	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs309145	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs309160	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs309164	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs309168	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs309173	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs309176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs309178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs309179	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309811	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs313518	0.83[CEU][hapmap];0.82[YRI][hapmap]
rs313519	0.83[CEU][hapmap]
rs313522	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs313523	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs313526	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs313528	0.82[CEU][hapmap];0.82[YRI][hapmap]
rs3213889	0.95[CHB][hapmap];0.82[YRI][hapmap]
rs3739020	0.83[EUR][1000 genomes]
rs3754686	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769005	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4954280	0.83[CEU][hapmap];0.82[YRI][hapmap]
rs4954450	0.85[EUR][1000 genomes]
rs4954490	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4954493	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4988183	0.85[EUR][1000 genomes]
rs55830620	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62159034	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs632632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6430589	0.84[EUR][1000 genomes]
rs666407	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6719488	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6730196	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6742283	0.94[EUR][1000 genomes]
rs6754311	0.80[CEU][hapmap]
rs680428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs687670	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7355359	0.83[CEU][hapmap]
rs745500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs748841	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7569057	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7579771	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs892715	0.94[CEU][hapmap];0.95[CHB][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9287442	0.81[CHB][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4988226	DARS	Cis_1M	lymphoblastoid	RTeQTL
rs4988226	MCM6	cis	Nerve Tibial	GTEx
rs4988226	MCM6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:136593600-136615400	Weak transcription	Esophagus	oesophagus
2	chr2:136594000-136615400	Weak transcription	Pancreas	Pancrea
3	chr2:136595600-136623400	Strong transcription	Fetal Thymus	thymus
4	chr2:136595800-136631200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:136596000-136622000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:136596800-136630400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:136596800-136631400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:136597000-136630800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:136597200-136619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:136597200-136621800	Strong transcription	Dnd41	blood
11	chr2:136597200-136630800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:136597200-136630800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:136597200-136631600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:136597400-136611600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:136597400-136630600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr2:136597400-136630600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:136597400-136630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:136597400-136631200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:136597600-136633000	Weak transcription	Right Ventricle	heart
20	chr2:136597800-136611800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:136598000-136631400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:136598400-136610800	Weak transcription	Lung	lung
23	chr2:136598400-136613000	Weak transcription	Small Intestine	intestine
24	chr2:136598400-136615400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:136598400-136633200	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:136598600-136613000	Weak transcription	Colonic Mucosa	Colon
27	chr2:136598600-136615600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:136598600-136623600	Weak transcription	HSMMtube	muscle
29	chr2:136598600-136631200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:136598800-136623600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:136599400-136616400	Strong transcription	Fetal Brain Female	brain
32	chr2:136599400-136630200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:136599800-136611400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:136599800-136611600	Strong transcription	GM12878-XiMat	blood
35	chr2:136599800-136611800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:136599800-136626600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:136599800-136630600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:136600000-136611200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:136600000-136613200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:136600000-136630600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:136600200-136611400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:136600800-136612200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:136600800-136615400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:136601200-136633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:136601400-136611200	Strong transcription	HSMM	muscle
46	chr2:136601400-136620400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:136601600-136622400	Weak transcription	Psoas Muscle	Psoas
48	chr2:136601600-136632600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:136602200-136630400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:136602400-136632400	Weak transcription	Brain Cingulate Gyrus	brain

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