Variant report

Variant	rs2915822
Chromosome Location	chr5:151130901-151130902
allele	A/C
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	CEBPB	chr5:151130619-151130912	IMR90	lung:	n/a	n/a
2	STAT3	chr5:151130637-151130936	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr5:151130698-151130973	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr5:151130619-151131063	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:151130651-151131216	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:151130606-151131119	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr5:151130668-151130934	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr5:151130666-151130970	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF384	chr5:151130892-151130912	K562	blood:	n/a	n/a
10	MYC	chr5:151130681-151131105	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr5:151130723-151130978	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:151130670-151131017	MCF10A-Er-Src	breast:	n/a	n/a
13	ZNF384	chr5:151130778-151131036	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:151130438..151133426-chr5:151135188..151138326,3	MCF-7	breast:
2	chr5:151130259..151133266-chr5:151136603..151138704,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253921	TF binding region
ATOX1	TF binding region
ENSG00000177556	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10044368	0.94[CHB][hapmap];0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs10075101	0.80[ASN][1000 genomes]
rs1042877	0.94[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs1062177	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875569	0.84[ASN][1000 genomes]
rs12108921	0.87[CHB][hapmap]
rs12109022	0.87[CHB][hapmap]
rs12515762	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12518722	0.86[AFR][1000 genomes]
rs12654573	0.82[ASN][1000 genomes]
rs12654877	0.81[ASN][1000 genomes]
rs1433041	0.94[CHB][hapmap];0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs1549920	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549921	0.85[ASN][1000 genomes]
rs177349	1.00[YRI][hapmap]
rs17741826	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17804178	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs188553	1.00[YRI][hapmap]
rs1972780	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978710	0.83[ASN][1000 genomes]
rs2016409	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053063	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347596	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347597	0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs2584895	1.00[YRI][hapmap]
rs2913889	0.87[CHB][hapmap]
rs2913892	0.87[CHB][hapmap]
rs2913893	0.87[CHB][hapmap]
rs2913894	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2915815	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915816	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2915817	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915818	0.97[ASN][1000 genomes]
rs2915820	0.93[ASN][1000 genomes]
rs2915823	0.82[ASN][1000 genomes]
rs2915824	0.82[ASN][1000 genomes]
rs2915826	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915827	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915828	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915829	0.81[ASN][1000 genomes]
rs2915868	0.94[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs2915869	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2915870	0.81[ASN][1000 genomes]
rs2915871	0.82[ASN][1000 genomes]
rs2915872	0.94[CHB][hapmap];0.88[CHD][hapmap];0.82[ASN][1000 genomes]
rs2915873	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2915874	0.82[ASN][1000 genomes]
rs2915876	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915877	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915878	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915881	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915882	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2915883	0.84[ASN][1000 genomes]
rs2915886	0.88[CHB][hapmap]
rs2915887	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2915888	0.94[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2915890	0.93[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2915891	0.81[ASN][1000 genomes]
rs2915892	0.81[ASN][1000 genomes]
rs2915893	0.81[ASN][1000 genomes]
rs2915894	0.81[ASN][1000 genomes]
rs2964570	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs2964571	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964572	0.81[ASN][1000 genomes]
rs2964573	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2964576	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964577	0.82[ASN][1000 genomes]
rs2964578	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964580	0.85[ASN][1000 genomes]
rs2964581	0.85[ASN][1000 genomes]
rs2964582	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964583	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964584	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2964585	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964587	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964588	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964589	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964590	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964591	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964592	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2964593	0.96[ASN][1000 genomes]
rs2964594	0.87[ASN][1000 genomes]
rs2964595	0.89[ASN][1000 genomes]
rs2964610	0.81[ASN][1000 genomes]
rs2964611	0.82[ASN][1000 genomes]
rs2964612	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964613	0.84[ASN][1000 genomes]
rs302392	1.00[YRI][hapmap]
rs302395	1.00[YRI][hapmap]
rs3097778	1.00[ASW][hapmap]
rs400545	1.00[YRI][hapmap]
rs4472253	0.80[ASN][1000 genomes]
rs4571461	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs4629586	0.81[ASN][1000 genomes]
rs62377931	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62377945	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62394146	0.86[AFR][1000 genomes]
rs62394155	0.86[AFR][1000 genomes]
rs6579897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6579901	0.92[ASN][1000 genomes]
rs6878198	0.87[ASN][1000 genomes]
rs6879461	0.81[ASN][1000 genomes]
rs6890099	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72802204	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719617	0.94[CHB][hapmap]
rs7720579	0.81[ASN][1000 genomes]
rs7728956	0.85[CHB][hapmap]
rs7733241	0.87[CHB][hapmap]
rs7734314	0.94[CHB][hapmap];0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs892005	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs892006	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs973529	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2915822	RP11-54C4.1	cis	Thyroid	GTEx
rs2915822	RP11-54C4.1	cis	Nerve Tibial	GTEx
rs2915822	CD74	cis	cerebellum	SCAN
rs2915822	C5orf46	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151120000-151137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:151120200-151137000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:151120200-151137200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:151120600-151132400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:151120600-151135000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:151120800-151134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:151120800-151135000	Weak transcription	Small Intestine	intestine
8	chr5:151120800-151135200	Weak transcription	Stomach Mucosa	stomach
9	chr5:151120800-151136800	Weak transcription	Ovary	ovary
10	chr5:151120800-151136800	Weak transcription	Hela-S3	cervix
11	chr5:151120800-151137000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:151123400-151137200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:151124400-151136200	Weak transcription	Colonic Mucosa	Colon
14	chr5:151125000-151136800	Weak transcription	Psoas Muscle	Psoas
15	chr5:151125600-151134600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:151125600-151136200	Weak transcription	Right Atrium	heart
17	chr5:151125800-151131000	Weak transcription	NH-A	brain
18	chr5:151125800-151136800	Weak transcription	Right Ventricle	heart
19	chr5:151125800-151137000	Weak transcription	Fetal Brain Male	brain
20	chr5:151126000-151131800	Weak transcription	Aorta	Aorta
21	chr5:151126000-151132000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:151126000-151132400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:151126000-151132400	Weak transcription	Fetal Kidney	kidney
24	chr5:151126000-151134800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:151126000-151134800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:151126000-151134800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:151126000-151134800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:151126000-151135000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:151126000-151135800	Weak transcription	Dnd41	blood
30	chr5:151126000-151136800	Weak transcription	Esophagus	oesophagus
31	chr5:151126000-151136800	Weak transcription	Pancreas	Pancrea
32	chr5:151126200-151131000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:151126200-151131000	Weak transcription	HSMMtube	muscle
34	chr5:151126200-151131200	Weak transcription	Spleen	Spleen
35	chr5:151126200-151132400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:151126200-151132400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:151126200-151134800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:151126200-151134800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:151126200-151136000	Weak transcription	Gastric	stomach
40	chr5:151126200-151136400	Weak transcription	Left Ventricle	heart
41	chr5:151126200-151136400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:151126200-151136600	Weak transcription	Fetal Brain Female	brain
43	chr5:151126200-151136800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:151126200-151137000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:151126200-151137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:151126400-151133200	Weak transcription	Lung	lung
47	chr5:151126400-151133600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:151126400-151134800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:151126400-151135200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:151126400-151136400	Weak transcription	Thymus	Thymus

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