Variant report

Variant	rs62377931
Chromosome Location	chr5:151149001-151149002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:151148547-151149867	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:151148595-151149407	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:151148376-151153894	K562	blood:	n/a	n/a
4	POLR2A	chr5:151148919-151149130	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr5:151148530-151149388	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:151141912..151146351-chr5:151146659..151152863,9	MCF-7	breast:
2	chr5:150861725..150863325-chr5:151147345..151150337,2	K562	blood:
3	chr5:151133870..151141079-chr5:151148554..151154544,14	MCF-7	breast:
4	chr5:151146976..151149918-chr5:151242837..151245370,2	K562	blood:
5	chr5:151136180..151141661-chr5:151146894..151154161,25	MCF-7	breast:

No data

Variant related genes	Relation type
G3BP1	TF binding region
ENSG00000213433	TF binding region
ENSG00000213433	Chromatin interaction
ENSG00000177556	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1062177	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875569	0.81[ASN][1000 genomes]
rs12515762	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12518722	1.00[AFR][1000 genomes]
rs12654573	0.86[EUR][1000 genomes]
rs1549920	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549921	0.81[ASN][1000 genomes]
rs17741826	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804178	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1972780	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978710	0.80[ASN][1000 genomes]
rs2016409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2053063	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2347596	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915815	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915816	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915817	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915818	0.93[ASN][1000 genomes]
rs2915820	0.90[ASN][1000 genomes]
rs2915822	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915826	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915827	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915828	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2915829	0.83[ASN][1000 genomes]
rs2915869	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915873	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2915874	0.85[ASN][1000 genomes]
rs2915876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915877	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915878	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915879	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915880	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915881	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915882	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915883	0.81[ASN][1000 genomes]
rs2915887	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2964571	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2964573	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964574	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2964576	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964577	0.85[ASN][1000 genomes]
rs2964578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964580	0.81[ASN][1000 genomes]
rs2964581	0.81[ASN][1000 genomes]
rs2964582	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964583	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964584	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964587	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964588	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964589	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964590	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964591	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964592	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2964593	0.92[ASN][1000 genomes]
rs2964594	0.84[ASN][1000 genomes]
rs2964595	0.86[ASN][1000 genomes]
rs2964612	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2964613	0.81[ASN][1000 genomes]
rs62377945	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62394146	1.00[AFR][1000 genomes]
rs62394155	1.00[AFR][1000 genomes]
rs6579897	0.86[ASN][1000 genomes]
rs6579901	0.89[ASN][1000 genomes]
rs6878198	0.84[ASN][1000 genomes]
rs6890099	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72802204	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892005	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892006	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs973529	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62377931	RP11-54C4.1	cis	Nerve Tibial	GTEx
rs62377931	RP11-54C4.1	cis	Thyroid	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151138800-151149600	Weak transcription	Aorta	Aorta
2	chr5:151138800-151149800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:151139200-151149600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:151139400-151149800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:151139400-151149800	Weak transcription	Right Atrium	heart
6	chr5:151143200-151149800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:151145600-151150000	Weak transcription	Pancreas	Pancrea
8	chr5:151145800-151149600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:151145800-151150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:151146000-151149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:151147200-151149800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:151148600-151149600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:151148600-151149600	Enhancers	Primary B cells from cord blood	blood
14	chr5:151148600-151149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:151148800-151149600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:151148800-151149800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:151148800-151149800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:151148800-151149800	Weak transcription	A549	lung
19	chr5:151149000-151149200	Enhancers	Ovary	ovary
20	chr5:151149000-151149400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:151149000-151149600	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:151149000-151149600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:151149000-151149600	Enhancers	GM12878-XiMat	blood
24	chr5:151149000-151149600	Enhancers	K562	blood
25	chr5:151149000-151149800	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:151149000-151149800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr5:151149000-151149800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:151149000-151149800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:151149000-151150000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:151149000-151150000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:151149000-151150000	Enhancers	Placenta	Placenta
32	chr5:151149000-151150000	Enhancers	Spleen	Spleen
33	chr5:151149000-151153200	Active TSS	Rectal Smooth Muscle	rectum

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