Variant report

Variant	rs334149
Chromosome Location	chr2:128254884-128254885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128252742..128257786-chr2:128259885..128265839,7	K562	blood:
2	chr2:128252742..128255070-chr2:128263163..128265839,2	K562	blood:
3	chr2:128252971..128255042-chr2:128282786..128285766,2	MCF-7	breast:
4	chr2:128241495..128243616-chr2:128253341..128255366,2	K562	blood:
5	chr2:128250130..128252141-chr2:128254802..128256819,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10190872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10206221	0.86[ASN][1000 genomes]
rs12470481	0.85[ASN][1000 genomes]
rs12475217	0.95[ASN][1000 genomes]
rs12621149	0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12987418	0.85[ASN][1000 genomes]
rs13397441	0.84[ASN][1000 genomes]
rs13399231	0.93[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs13415053	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1549767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17015347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17015399	0.83[ASN][1000 genomes]
rs173013	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17522960	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2078028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2176595	0.94[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2249646	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2566564	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2679402	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679407	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334142	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334153	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334155	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4423553	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs4662582	0.84[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs55981410	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56217122	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56234754	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58462277	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59934067	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61342606	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6707186	0.81[ASN][1000 genomes]
rs6707425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713317	0.87[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap]
rs6722447	0.93[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs6727506	0.81[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap]
rs6731270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6734816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748999	0.81[TSI][hapmap]
rs6757654	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72958594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72958600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570609	1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7572181	0.84[ASN][1000 genomes]
rs7574209	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7574215	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7576217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7603777	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777547	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777549	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777551	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs777561	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs777562	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777563	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs334149	MAP3K2	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
3	chr2:128235200-128270000	Strong transcription	Dnd41	blood
4	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:128237600-128255000	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:128237600-128255200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr2:128237600-128255400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:128237600-128256000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:128237600-128256200	Strong transcription	HepG2	liver
10	chr2:128237600-128263200	Strong transcription	Adipose Nuclei	Adipose
11	chr2:128237600-128263200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:128237600-128263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:128237600-128263400	Strong transcription	Fetal Thymus	thymus
14	chr2:128237800-128255800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr2:128237800-128263200	Strong transcription	Liver	Liver
16	chr2:128237800-128263200	Strong transcription	HUVEC	blood vessel
17	chr2:128237800-128263400	Strong transcription	Placenta	Placenta
18	chr2:128238400-128255200	Strong transcription	K562	blood
19	chr2:128238400-128262400	Strong transcription	NH-A	brain
20	chr2:128238800-128260400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:128239200-128263400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:128239400-128255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:128239400-128256200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:128239800-128261800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:128240000-128263400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:128240200-128263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:128240400-128263800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:128241000-128263200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:128242000-128256600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:128242000-128262600	Strong transcription	Fetal Brain Female	brain
36	chr2:128242600-128255800	Strong transcription	NHDF-Ad	bronchial
37	chr2:128242600-128263200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:128242600-128263200	Strong transcription	HMEC	breast
39	chr2:128242800-128262200	Strong transcription	HSMM	muscle
40	chr2:128244000-128263200	Strong transcription	Primary B cells from cord blood	blood
41	chr2:128244400-128255800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:128244600-128255600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:128244600-128255800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:128244600-128262200	Strong transcription	Osteobl	bone
45	chr2:128244600-128263600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:128244600-128263800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:128244600-128263800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:128244600-128263800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:128244600-128263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:128245000-128255000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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