Variant report

Variant	rs348750
Chromosome Location	chr5:154319892-154319893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:154319891-154321991	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:154319807-154321322	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154235585..154240256-chr5:154317008..154321464,8	K562	blood:
2	chr5:154235909..154239670-chr5:154316883..154321797,7	K562	blood:
3	chr5:154229420..154232188-chr5:154319617..154321370,2	K562	blood:
4	chr5:154133984..154137613-chr5:154316996..154320177,4	K562	blood:
5	chr5:154314869..154319173-chr5:154319212..154322644,7	K562	blood:
6	chr5:154236188..154239312-chr5:154315571..154321975,7	MCF-7	breast:

No data

Variant related genes	Relation type
GEMIN5	TF binding region
MRPL22	TF binding region
ENSG00000155508	Chromatin interaction
ENSG00000082516	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1035368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515727	0.84[MEX][hapmap];1.00[TSI][hapmap]
rs11167705	0.88[ASN][1000 genomes]
rs12187921	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs12188498	1.00[TSI][hapmap]
rs12188828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12300	0.80[ASW][hapmap];0.87[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1421815	1.00[TSI][hapmap]
rs1421819	1.00[TSI][hapmap]
rs158134	0.83[ASN][1000 genomes]
rs164195	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17096232	1.00[TSI][hapmap]
rs17116409	1.00[TSI][hapmap]
rs17116411	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17116414	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17116417	1.00[TSI][hapmap]
rs17116421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17116433	1.00[CHB][hapmap]
rs17116442	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17116534	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs180846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186971	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1974776	0.87[ASW][hapmap];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];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974777	0.87[ASW][hapmap];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];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112223	1.00[CEU][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2161128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258437	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2431184	0.96[ASN][1000 genomes]
rs2544859	0.93[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2544860	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2544866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544874	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544875	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2544876	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544880	0.87[ASW][hapmap];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];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2544884	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs255529	0.82[ASN][1000 genomes]
rs2560063	0.94[EUR][1000 genomes]
rs2644743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644744	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2644746	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688186	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688187	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688188	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688189	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688190	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688191	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688193	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688194	0.81[EUR][1000 genomes]
rs2688195	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2688198	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688199	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2688200	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2688201	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2688206	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688208	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[EUR][1000 genomes]
rs286623	0.81[ASN][1000 genomes]
rs286624	0.83[ASN][1000 genomes]
rs32427	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs348739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348749	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348751	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348752	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348754	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776984	1.00[TSI][hapmap]
rs39614	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4354100	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454161	0.96[ASN][1000 genomes]
rs4958771	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770418	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56374414	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58415346	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59525998	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59749917	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6580122	0.86[ASN][1000 genomes]
rs6865950	1.00[TSI][hapmap]
rs6879277	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884416	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6895741	1.00[TSI][hapmap]
rs702742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73276742	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73280705	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716019	1.00[TSI][hapmap]
rs7723269	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs816717	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816720	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs816722	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs816734	0.84[ASN][1000 genomes]
rs816743	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816747	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs888694	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs960499	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs348750	POMZP3	trans	lymphoblastoid	seeQTL
rs348750	EBF1	cis	parietal	SCAN
rs348750	ANXA6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154317800-154320000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:154317800-154320400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:154317800-154320400	Weak transcription	Small Intestine	intestine
4	chr5:154318000-154320200	Weak transcription	Spleen	Spleen
5	chr5:154318000-154320400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:154318000-154320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:154318000-154320600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:154318200-154320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:154318200-154320000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:154318200-154320000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:154318200-154320000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:154318200-154320000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:154318200-154320000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:154318200-154320000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:154318200-154320000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:154318200-154320000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:154318200-154320000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:154318200-154320000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:154318200-154320000	Weak transcription	Liver	Liver
20	chr5:154318200-154320000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:154318200-154320000	Weak transcription	Brain Anterior Caudate	brain
22	chr5:154318200-154320000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:154318200-154320000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:154318200-154320000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:154318200-154320000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:154318200-154320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:154318200-154320000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:154318200-154320000	Weak transcription	Fetal Brain Female	brain
29	chr5:154318200-154320000	Weak transcription	Fetal Intestine Small	intestine
30	chr5:154318200-154320000	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:154318200-154320000	Weak transcription	Left Ventricle	heart
32	chr5:154318200-154320000	Weak transcription	Pancreas	Pancrea
33	chr5:154318200-154320000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:154318200-154320000	Weak transcription	Right Atrium	heart
35	chr5:154318200-154320000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:154318200-154320000	Weak transcription	Thymus	Thymus
37	chr5:154318200-154320000	Weak transcription	Hela-S3	cervix
38	chr5:154318200-154320000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:154318200-154320000	Weak transcription	NHDF-Ad	bronchial
40	chr5:154318200-154320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:154318200-154320200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:154318200-154320200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:154318200-154320200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:154318200-154320200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:154318200-154320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:154318200-154320200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:154318200-154320200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:154318200-154320200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:154318200-154320200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:154318200-154320200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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