Variant report

Variant	rs348751
Chromosome Location	chr5:154321768-154321769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 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	IRF1	chr5:154321657-154321857	K562	blood:	n/a	n/a
3	BACH1	chr5:154321718-154321901	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154235909..154239670-chr5:154316883..154321797,7	K562	blood:
2	chr5:154210790..154212460-chr5:154320495..154322625,2	MCF-7	breast:
3	chr5:154314869..154319173-chr5:154319212..154322644,7	K562	blood:
4	chr5:153417949..153419567-chr5:154320881..154323557,2	MCF-7	breast:
5	chr5:154236188..154239312-chr5:154315571..154321975,7	MCF-7	breast:

No data

Variant related genes	Relation type
GEMIN5	TF binding region
ENSG00000155508	Chromatin interaction
ENSG00000170271	Chromatin interaction
ENSG00000055147	Chromatin interaction
ENSG00000037749	Chromatin interaction
ENSG00000082516	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1035368	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515727	0.80[AMR][1000 genomes]
rs11167705	0.88[ASN][1000 genomes]
rs12187890	0.80[AMR][1000 genomes]
rs12188828	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12300	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1421819	0.80[AMR][1000 genomes]
rs158134	0.83[ASN][1000 genomes]
rs164195	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17116411	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17116414	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17116421	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17116442	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17116534	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs180846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186971	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1974776	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974777	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042168	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112223	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2161128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2431184	0.96[ASN][1000 genomes]
rs2544859	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2544860	0.81[ASN][1000 genomes]
rs2544866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544874	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544875	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2544876	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2544880	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2544884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs255529	0.82[ASN][1000 genomes]
rs2560063	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2644743	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644744	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2644746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2688186	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688187	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688188	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688189	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688190	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688191	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688193	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688194	0.81[EUR][1000 genomes]
rs2688195	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2688198	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688199	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2688200	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2688201	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2688206	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2688208	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs286623	0.81[ASN][1000 genomes]
rs286624	0.83[ASN][1000 genomes]
rs348739	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348748	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs348750	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348752	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39614	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4354100	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454161	0.96[ASN][1000 genomes]
rs4958771	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770418	0.84[AFR][1000 genomes];0.96[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]
rs6879277	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884416	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs702742	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73276742	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73280705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73807206	0.80[AMR][1000 genomes]
rs73807213	0.80[AMR][1000 genomes]
rs7723269	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs816717	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816718	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs816720	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs816722	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs816734	0.84[ASN][1000 genomes]
rs816743	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs816747	0.86[ASN][1000 genomes]
rs888694	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154320000-154321800	Active TSS	Fetal Brain Female	brain
2	chr5:154320000-154322200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:154320000-154322200	Active TSS	Right Atrium	heart
4	chr5:154320200-154321800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:154320200-154321800	Active TSS	Right Ventricle	heart
6	chr5:154320200-154322000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:154320200-154322000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:154320200-154322200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:154320200-154322200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:154320200-154322200	Active TSS	Psoas Muscle	Psoas
11	chr5:154320200-154322400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:154320400-154321800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:154320400-154321800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:154320400-154321800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:154320400-154321800	Active TSS	NH-A	brain
16	chr5:154320400-154321800	Active TSS	NHDF-Ad	bronchial
17	chr5:154320400-154322000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:154320400-154322000	Active TSS	A549	lung
19	chr5:154320400-154322000	Active TSS	GM12878-XiMat	blood
20	chr5:154320400-154322000	Active TSS	Hela-S3	cervix
21	chr5:154320400-154322400	Active TSS	NHLF	lung
22	chr5:154320600-154321800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:154320600-154321800	Active TSS	HMEC	breast
24	chr5:154320600-154322000	Active TSS	K562	blood
25	chr5:154320800-154322000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr5:154321000-154322200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:154321200-154321800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:154321200-154321800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:154321200-154322000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr5:154321200-154322200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:154321200-154322400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr5:154321200-154322600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:154321200-154322600	Flanking Active TSS	Dnd41	blood
34	chr5:154321200-154322600	Flanking Active TSS	HUVEC	blood vessel
35	chr5:154321200-154337400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:154321200-154338000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:154321400-154321800	Active TSS	Thymus	Thymus
38	chr5:154321400-154322000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:154321400-154322000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:154321400-154322000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:154321400-154322000	Active TSS	Fetal Brain Male	brain
42	chr5:154321400-154322000	Active TSS	HepG2	liver
43	chr5:154321400-154322200	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:154321400-154322200	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:154321400-154322400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:154321400-154322400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:154321400-154322400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:154321400-154322400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:154321400-154322600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:154321400-154322600	Weak transcription	Left Ventricle	heart

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