Variant report

Variant	rs16922601
Chromosome Location	chr10:22982476-22982477
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	BATF	chr10:22982263-22982691	GM12878	blood:	n/a	n/a
2	MAFK	chr10:22982446-22982734	K562	blood:	n/a	n/a
3	TCF12	chr10:22982269-22982967	SK-N-SH	brain:	n/a	n/a
4	TAL1	chr10:22982430-22982760	K562	blood:	n/a	n/a
5	POLR2A	chr10:22982389-22982802	GM12892	blood:	n/a	n/a
6	RCOR1	chr10:22982427-22983128	K562	blood:	n/a	n/a
7	SIN3AK20	chr10:22982355-22982929	MCF-7	breast:	n/a	n/a
8	GATA3	chr10:22982446-22982768	MCF-7	breast:	n/a	n/a
9	FOSL1	chr10:22982436-22982766	K562	blood:	n/a	chr10:22982590-22982601
10	POLR2A	chr10:22982398-22982792	SK-N-SH	brain:	n/a	n/a
11	FOS	chr10:22982464-22982738	MCF10A-Er-Src	breast:	n/a	n/a
12	ZMIZ1	chr10:22982467-22983036	K562	blood:	n/a	n/a
13	GATA3	chr10:22982415-22982848	MCF-7	breast:	n/a	n/a
14	ARID3A	chr10:22982412-22982979	K562	blood:	n/a	n/a
15	TEAD4	chr10:22982232-22982877	K562	blood:	n/a	n/a
16	GATA2	chr10:22982340-22982762	K562	blood:	n/a	chr10:22982378-22982388
17	MYC	chr10:22982397-22983008	K562	blood:	n/a	n/a
18	NFIC	chr10:22982149-22982620	GM12878	blood:	n/a	n/a
19	FOSL2	chr10:22982307-22982818	SK-N-SH	brain:	n/a	n/a
20	FOS	chr10:22982425-22982760	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA3	chr10:22982194-22982989	SK-N-SH	brain:	n/a	chr10:22982378-22982388 chr10:22982875-22982882 chr10:22982875-22982884
22	POLR2A	chr10:22982333-22983277	GM12892	blood:	n/a	n/a
23	MAFF	chr10:22982428-22982836	K562	blood:	n/a	n/a
24	GATA3	chr10:22982359-22982878	MCF-7	breast:	n/a	chr10:22982378-22982388
25	RAD21	chr10:22982469-22982727	SK-N-SH_RA	brain:	n/a	n/a
26	CCNT2	chr10:22982467-22982906	K562	blood:	n/a	n/a
27	POLR2A	chr10:22982468-22982487	HUVEC	blood vessel:	n/a	n/a
28	FOSL2	chr10:22982373-22982807	MCF-7	breast:	n/a	n/a
29	GATA3	chr10:22982201-22982834	SK-N-SH	brain:	n/a	chr10:22982378-22982388
30	STAT3	chr10:22982204-22982670	MCF10A-Er-Src	breast:	n/a	n/a
31	GATA1	chr10:22982192-22983014	PBDE	blood:	n/a	chr10:22982378-22982388 chr10:22982875-22982882 chr10:22982875-22982884
32	MYC	chr10:22982441-22982839	K562	blood:	n/a	n/a
33	JUND	chr10:22982405-22982828	K562	blood:	n/a	n/a
34	NR2F2	chr10:22982417-22982874	MCF-7	breast:	n/a	n/a
35	EP300	chr10:22982418-22982745	SK-N-SH_RA	brain:	n/a	n/a
36	TCF12	chr10:22982225-22982907	SK-N-SH	brain:	n/a	n/a
37	FOS	chr10:22982252-22982758	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL1	chr10:22982393-22982780	K562	blood:	n/a	chr10:22982590-22982601
39	POLR2A	chr10:22982375-22982539	K562	blood:	n/a	n/a
40	JUN	chr10:22982241-22983171	K562	blood:	n/a	n/a
41	EP300	chr10:22982396-22982965	K562	blood:	n/a	n/a
42	ATF3	chr10:22982401-22982784	K562	blood:	n/a	n/a
43	JUN	chr10:22982432-22982755	K562	blood:	n/a	n/a
44	TBL1XR1	chr10:22982424-22983148	K562	blood:	n/a	n/a
45	NR2F2	chr10:22982387-22982962	K562	blood:	n/a	n/a
46	FOS	chr10:22982425-22982754	MCF10A-Er-Src	breast:	n/a	n/a
47	MAX	chr10:22982398-22982764	SK-N-SH	brain:	n/a	n/a
48	JUND	chr10:22982306-22982852	SK-N-SH	brain:	n/a	n/a
49	ATF1	chr10:22982452-22982794	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22982382..22984404-chr10:22985481..22987292,2	MCF-7	breast:
2	chr10:22982152..22984187-chr10:23002359..23004163,2	K562	blood:
3	chr10:22903368..22907136-chr10:22980812..22983747,3	K562	blood:
4	chr10:22878466..22880644-chr10:22981543..22983753,2	K562	blood:

Variant related genes	Relation type
PIP4K2A	TF binding region
ENSG00000150867	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10508648	1.00[GIH][hapmap]
rs10508649	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16922574	1.00[CEU][hapmap]
rs16922612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16922619	1.00[CEU][hapmap]
rs16922629	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs2032025	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2032026	1.00[CEU][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2032027	1.00[CEU][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58854363	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7078735	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[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7079078	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs74121869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74121888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74121889	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs74121890	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914338	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap]

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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22970600-22989000	Weak transcription	Esophagus	oesophagus
2	chr10:22972600-22983600	Enhancers	Brain Substantia Nigra	brain
3	chr10:22972600-23000200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:22972800-22990000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:22972800-22999400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:22973000-22988200	Weak transcription	Aorta	Aorta
7	chr10:22973000-22990000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:22973000-22997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:22973000-22999200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr10:22973200-22987400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:22973200-22989400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:22973800-22985800	Weak transcription	Fetal Heart	heart
13	chr10:22974000-22985400	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:22974600-22982600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:22974800-22988200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:22974800-22988400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:22975000-22982600	Weak transcription	Gastric	stomach
18	chr10:22975600-23001200	Weak transcription	Colonic Mucosa	Colon
19	chr10:22976000-22984000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:22976000-22984400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:22976000-22989000	Weak transcription	Thymus	Thymus
22	chr10:22977200-22998400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:22977600-22999200	Weak transcription	Dnd41	blood
24	chr10:22978200-22988200	Weak transcription	Left Ventricle	heart
25	chr10:22978600-22983000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr10:22978600-22983400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:22979400-22983400	Enhancers	Brain Angular Gyrus	brain
28	chr10:22979400-22984800	Enhancers	Brain Hippocampus Middle	brain
29	chr10:22979800-22983200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:22979800-22983400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr10:22979800-22983600	Enhancers	Primary B cells from peripheral blood	blood
32	chr10:22980200-22982600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr10:22980200-22983000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr10:22980200-22983400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr10:22980200-22986800	Weak transcription	Adipose Nuclei	Adipose
36	chr10:22980200-22987800	Weak transcription	Fetal Lung	lung
37	chr10:22980200-22988200	Weak transcription	Pancreas	Pancrea
38	chr10:22980200-22988200	Weak transcription	Spleen	Spleen
39	chr10:22980200-22993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:22980400-22982600	Weak transcription	Stomach Mucosa	stomach
41	chr10:22980400-22983000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:22980400-22999000	Weak transcription	Lung	lung
43	chr10:22980400-23000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:22980600-22982800	Weak transcription	Primary B cells from cord blood	blood
45	chr10:22980600-22989000	Weak transcription	A549	lung
46	chr10:22980800-22982600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr10:22980800-22982600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:22980800-22988000	Weak transcription	Small Intestine	intestine
49	chr10:22980800-22989000	Weak transcription	HepG2	liver
50	chr10:22981000-22983400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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