Variant report

Variant	rs2267154
Chromosome Location	chr22:30804862-30804863
allele	A/G
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	POLR2A	chr22:30804632-30805182	U87	brain:	n/a	n/a
2	POLR2A	chr22:30804751-30805159	HUVEC	blood vessel:	n/a	n/a
3	TCF7L2	chr22:30804726-30805145	MCF-7	breast:	n/a	n/a
4	GATA3	chr22:30804683-30805161	MCF-7	breast:	n/a	n/a
5	HDAC2	chr22:30804674-30805179	MCF-7	breast:	n/a	n/a
6	USF2	chr22:30804844-30805022	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr22:30804828-30804961	Hela-S3	cervix:	n/a	n/a
8	CREB1	chr22:30804646-30805039	A549	lung:	n/a	n/a
9	FOXM1	chr22:30804640-30805133	MCF-7	breast:	n/a	n/a
10	HDAC2	chr22:30804603-30805258	MCF-7	breast:	n/a	n/a
11	BHLHE40	chr22:30804697-30805101	K562	blood:	n/a	n/a
12	REST	chr22:30804786-30805166	K562	blood:	n/a	n/a
13	GATA3	chr22:30804547-30805345	MCF-7	breast:	n/a	n/a
14	TBP	chr22:30804805-30805084	Hela-S3	cervix:	n/a	n/a
15	NR3C1	chr22:30804533-30805243	A549	lung:	n/a	n/a
16	STAT3	chr22:30804755-30805168	MCF10A-Er-Src	breast:	n/a	n/a
17	ESR1	chr22:30804789-30805055	T-47D	breast:	n/a	n/a
18	POLR2A	chr22:30804675-30805218	HUVEC	blood vessel:	n/a	n/a
19	EP300	chr22:30804800-30805133	K562	blood:	n/a	n/a
20	ZKSCAN1	chr22:30804600-30804926	Hela-S3	cervix:	n/a	n/a
21	NR3C1	chr22:30804538-30805090	A549	lung:	n/a	n/a
22	FOS	chr22:30804833-30805160	MCF10A-Er-Src	breast:	n/a	chr22:30804878-30804886 chr22:30804876-30804887 chr22:30804877-30804887
23	ESR1	chr22:30804769-30805019	T-47D	breast:	n/a	n/a
24	RCOR1	chr22:30804758-30805243	K562	blood:	n/a	n/a
25	POLR2A	chr22:30804813-30805078	HUVEC	blood vessel:	n/a	n/a
26	STAT3	chr22:30804774-30805157	MCF10A-Er-Src	breast:	n/a	n/a
27	ELF1	chr22:30804833-30805162	K562	blood:	n/a	chr22:30804982-30804995
28	UBTF	chr22:30804756-30805162	K562	blood:	n/a	n/a
29	E2F4	chr22:30804642-30804870	MCF10A-Er-Src	breast:	n/a	n/a
30	ESR1	chr22:30804792-30805133	T-47D	breast:	n/a	n/a
31	POLR2A	chr22:30804727-30804932	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr22:30804611-30805315	U87	brain:	n/a	n/a
33	NR3C1	chr22:30804540-30805208	A549	lung:	n/a	n/a
34	MYC	chr22:30804771-30804867	HUVEC	blood vessel:	n/a	n/a
35	NR3C1	chr22:30804608-30805141	A549	lung:	n/a	n/a
36	POLR2A	chr22:30804708-30804901	A549	lung:	n/a	n/a
37	GATA2	chr22:30804728-30805145	K562	blood:	n/a	n/a
38	STAT3	chr22:30804826-30805091	MCF10A-Er-Src	breast:	n/a	n/a
39	MAFK	chr22:30804754-30805109	K562	blood:	n/a	n/a
40	JUND	chr22:30804506-30805123	MCF-7	breast:	n/a	chr22:30804878-30804886 chr22:30804877-30804887 chr22:30804683-30804692
41	JUND	chr22:30804737-30805171	K562	blood:	n/a	chr22:30804878-30804886 chr22:30804877-30804887
42	EP300	chr22:30804613-30805261	MCF-7	breast:	n/a	n/a
43	NR2F2	chr22:30804644-30805213	K562	blood:	n/a	n/a
44	GATA2	chr22:30804670-30805157	HUVEC	blood vessel:	n/a	n/a
45	FOS	chr22:30804696-30805107	HUVEC	blood vessel:	n/a	chr22:30804878-30804886 chr22:30804876-30804887 chr22:30804877-30804887
46	POLR2A	chr22:30804730-30805088	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr22:30804605-30805321	U87	brain:	n/a	n/a
48	MYC	chr22:30804852-30805087	K562	blood:	n/a	n/a
49	FOS	chr22:30804715-30805160	MCF10A-Er-Src	breast:	n/a	chr22:30804878-30804886 chr22:30804876-30804887 chr22:30804877-30804887
50	NR2F2	chr22:30804643-30805254	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30802321..30807877-chr22:30810760..30815440,6	MCF-7	breast:
2	chr22:30800239..30801947-chr22:30802123..30804894,2	K562	blood:
3	chr22:30801331..30806439-chr22:30816907..30821751,5	K562	blood:
4	chr22:30803275..30806677-chr22:30820826..30824180,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249590	TF binding region
SEC14L2	TF binding region
ENSG00000222915	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000099999	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1005835	0.84[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1010324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11089442	0.82[CEU][hapmap]
rs11089447	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11089448	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11089449	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11703867	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11705639	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12171261	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072160	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2074731	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2267155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283866	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2283870	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299827	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2839998	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57940170	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5994294	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5994305	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5994306	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5997637	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5997646	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61583714	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71331235	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7288366	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7289360	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7290317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8141656	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9619096	0.91[CEU][hapmap]
rs9619098	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9619105	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9620984	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30794000-30816600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:30794000-30818000	Weak transcription	Right Atrium	heart
3	chr22:30794400-30811800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:30794600-30811400	Weak transcription	Right Ventricle	heart
5	chr22:30794800-30811400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr22:30794800-30811600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:30794800-30818600	Weak transcription	Primary B cells from cord blood	blood
8	chr22:30795000-30809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:30795000-30814600	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:30795200-30807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:30795200-30809000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr22:30795200-30810200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30795200-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:30795200-30814400	Weak transcription	Small Intestine	intestine
15	chr22:30795400-30812000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:30796000-30813400	Weak transcription	Fetal Kidney	kidney
17	chr22:30796200-30811400	Weak transcription	Placenta	Placenta
18	chr22:30797800-30805000	Genic enhancers	HMEC	breast
19	chr22:30797800-30816400	Strong transcription	Dnd41	blood
20	chr22:30798200-30805000	Weak transcription	Ovary	ovary
21	chr22:30798600-30811400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:30798600-30811600	Weak transcription	GM12878-XiMat	blood
23	chr22:30798600-30812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:30798600-30812200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30798800-30811400	Weak transcription	Colonic Mucosa	Colon
26	chr22:30799400-30812000	Weak transcription	Stomach Mucosa	stomach
27	chr22:30799400-30817600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:30800200-30812600	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr22:30800400-30806400	Weak transcription	Left Ventricle	heart
30	chr22:30800400-30806600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:30800600-30811600	Weak transcription	Psoas Muscle	Psoas
32	chr22:30801200-30808000	Strong transcription	Gastric	stomach
33	chr22:30801200-30814400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:30801400-30806600	Strong transcription	Brain Hippocampus Middle	brain
35	chr22:30801400-30807800	Strong transcription	Primary T cells from cord blood	blood
36	chr22:30801400-30816600	Strong transcription	Fetal Stomach	stomach
37	chr22:30801800-30805200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:30801800-30805400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:30801800-30810000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr22:30802000-30816400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr22:30802200-30807200	Strong transcription	Fetal Thymus	thymus
42	chr22:30802200-30807400	Strong transcription	Brain Germinal Matrix	brain
43	chr22:30802200-30807800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr22:30802200-30807800	Strong transcription	Brain Angular Gyrus	brain
45	chr22:30802200-30808200	Strong transcription	Fetal Brain Female	brain
46	chr22:30802200-30816200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:30802200-30817000	Genic enhancers	Liver	Liver
48	chr22:30802400-30806400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:30802400-30806800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:30802400-30811600	Strong transcription	Fetal Intestine Small	intestine

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