Variant report

Variant	rs73002188
Chromosome Location	chr6:150944561-150944562
allele	C/T
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	GATA3	chr6:150943913-150944771	MCF-7	breast:	n/a	n/a
2	SPI1	chr6:150943648-150944863	GM12878	blood:	n/a	n/a
3	EP300	chr6:150943996-150944676	GM12878	blood:	n/a	chr6:150944368-150944382 chr6:150944247-150944254 chr6:150944113-150944122 chr6:150944264-150944278
4	POU2F2	chr6:150943971-150944626	GM12878	blood:	n/a	n/a
5	RELA	chr6:150943996-150945139	GM19193	blood:	n/a	n/a
6	PML	chr6:150943914-150944760	GM12878	blood:	n/a	n/a
7	FOXM1	chr6:150943924-150944673	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr6:150943947-150944783	GM12878	blood:	n/a	n/a
9	SP1	chr6:150943924-150944639	GM12878	blood:	n/a	n/a
10	RELA	chr6:150944002-150944641	GM12878	blood:	n/a	n/a
11	NR2F2	chr6:150944104-150944637	MCF-7	breast:	n/a	n/a
12	RELA	chr6:150943905-150944618	GM18505	blood:	n/a	n/a
13	RUNX3	chr6:150944000-150944631	GM12878	blood:	n/a	n/a
14	WRNIP1	chr6:150944154-150944740	GM12878	blood:	n/a	n/a
15	USF2	chr6:150944095-150944662	GM12878	blood:	n/a	n/a
16	CREB1	chr6:150943849-150944821	GM12878	blood:	n/a	n/a
17	CHD2	chr6:150943942-150944657	GM12878	blood:	n/a	n/a
18	SMC3	chr6:150943987-150944612	GM12878	blood:	n/a	n/a
19	CUX1	chr6:150944048-150944564	GM12878	blood:	n/a	chr6:150944128-150944142
20	MXI1	chr6:150944048-150944884	GM12878	blood:	n/a	n/a
21	GATA3	chr6:150944009-150944698	MCF-7	breast:	n/a	n/a
22	RELA	chr6:150944053-150944602	GM18951	blood:	n/a	n/a
23	ATF2	chr6:150943923-150944597	GM12878	blood:	n/a	n/a
24	CREB1	chr6:150943958-150944805	GM12878	blood:	n/a	n/a
25	MTA3	chr6:150943768-150944614	GM12878	blood:	n/a	n/a
26	NFATC1	chr6:150943975-150944654	GM12878	blood:	n/a	n/a
27	GATA2	chr6:150943978-150944603	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr6:150944096-150944614	HUVEC	blood vessel:	n/a	n/a
29	RELA	chr6:150943990-150944887	GM10847	blood:	n/a	n/a
30	TCF12	chr6:150944082-150944656	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr6:150943923-150944660	MCF-7	breast:	n/a	n/a
32	PAX5	chr6:150943933-150944731	GM12878	blood:	n/a	chr6:150944264-150944273 chr6:150944112-150944121
33	NFIC	chr6:150943885-150944730	GM12878	blood:	n/a	n/a
34	BCLAF1	chr6:150943922-150944627	GM12878	blood:	n/a	chr6:150944264-150944273
35	EBF1	chr6:150944080-150944582	GM12878	blood:	n/a	n/a
36	RELA	chr6:150943769-150944695	GM19099	blood:	n/a	n/a
37	POLR2A	chr6:150943705-150945126	Raji	blood:	n/a	n/a
38	NR2F2	chr6:150944202-150944641	MCF-7	breast:	n/a	n/a
39	BHLHE40	chr6:150943998-150944813	GM12878	blood:	n/a	n/a
40	NFIC	chr6:150943960-150944574	GM12878	blood:	n/a	n/a
41	SPI1	chr6:150943944-150944576	GM12891	blood:	n/a	n/a
42	RELA	chr6:150944053-150944946	GM12891	blood:	n/a	n/a
43	EP300	chr6:150943812-150944657	GM12878	blood:	n/a	chr6:150944368-150944382 chr6:150944247-150944254 chr6:150944113-150944122 chr6:150944264-150944278
44	ATF2	chr6:150943968-150944604	GM12878	blood:	n/a	n/a
45	RUNX3	chr6:150943939-150944633	GM12878	blood:	n/a	n/a
46	RCOR1	chr6:150943939-150944770	GM12878	blood:	n/a	n/a
47	EP300	chr6:150944067-150944579	GM12878	blood:	n/a	chr6:150944368-150944382 chr6:150944247-150944254 chr6:150944113-150944122 chr6:150944264-150944278

Variant related genes	Relation type
ENSG00000224029	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11968779	1.00[EUR][1000 genomes]
rs1352975	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17080012	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs201531	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2345668	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275348	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4323318	0.95[EUR][1000 genomes]
rs4400227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4530869	0.95[EUR][1000 genomes]
rs4869921	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4869922	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4870533	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4870534	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4870535	0.97[EUR][1000 genomes]
rs4870537	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62432653	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62432656	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62432657	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62432658	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62432659	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434060	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434061	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434062	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434064	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62434092	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434093	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434094	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62434103	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62434104	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73002187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004311	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73016045	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73016054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478767	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9478768	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9478769	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9478770	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9478771	0.97[EUR][1000 genomes]
rs9478772	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9478773	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9478774	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9480490	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480492	0.97[EUR][1000 genomes]
rs9480493	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480494	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480495	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480496	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480497	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9480499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9480505	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150928200-150944800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:150928400-150952800	Weak transcription	Right Ventricle	heart
3	chr6:150928600-150948800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:150931000-150947400	Weak transcription	Placenta	Placenta
5	chr6:150936600-150944600	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:150939000-150944600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:150939000-150945200	Enhancers	Adipose Nuclei	Adipose
8	chr6:150939000-150949600	Weak transcription	Pancreas	Pancrea
9	chr6:150939000-150954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:150939200-150944600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:150939800-150948600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:150940200-150944600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:150940800-150947400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:150940800-150948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:150941200-150953000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:150941800-150944600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:150941800-150947000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:150941800-150954000	Weak transcription	Brain Angular Gyrus	brain
19	chr6:150941800-150962600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:150942000-150944600	Weak transcription	Fetal Stomach	stomach
21	chr6:150942000-150945000	Enhancers	Primary B cells from cord blood	blood
22	chr6:150942000-150947400	Weak transcription	Fetal Lung	lung
23	chr6:150942000-150949600	Weak transcription	Colonic Mucosa	Colon
24	chr6:150942000-150949600	Weak transcription	Gastric	stomach
25	chr6:150942200-150948800	Weak transcription	Stomach Mucosa	stomach
26	chr6:150942400-150944800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:150942400-150948000	Weak transcription	Small Intestine	intestine
28	chr6:150942600-150944600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:150942600-150947400	Weak transcription	Fetal Intestine Large	intestine
30	chr6:150942600-150948000	Weak transcription	Fetal Intestine Small	intestine
31	chr6:150942800-150945000	Enhancers	HUVEC	blood vessel
32	chr6:150942800-150945600	Enhancers	Primary hematopoietic stem cells	blood
33	chr6:150943000-150944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:150943000-150945000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:150943000-150945600	Enhancers	Left Ventricle	heart
36	chr6:150943000-150945600	Enhancers	Right Atrium	heart
37	chr6:150943200-150947400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:150943400-150944800	Flanking Active TSS	Fetal Thymus	thymus
39	chr6:150943400-150944800	Enhancers	Lung	lung
40	chr6:150943400-150945000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:150943400-150945600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:150943400-150945600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:150943600-150944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:150943600-150945000	Flanking Active TSS	GM12878-XiMat	blood
45	chr6:150943600-150945000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr6:150943800-150944600	Enhancers	Fetal Kidney	kidney
47	chr6:150943800-150945000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:150943800-150945000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr6:150943800-150947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:150944200-150944600	Active TSS	Thymus	Thymus

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