Variant report

Variant	rs17034916
Chromosome Location	chr12:104322214-104322215
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	EBF1	chr12:104322093-104325000	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:104321971-104325533	GM12878	blood:	n/a	n/a
3	BCLAF1	chr12:104322139-104323932	GM12878	blood:	n/a	chr12:104323616-104323629 chr12:104323586-104323594 chr12:104323615-104323624 chr12:104323613-104323626
4	WRNIP1	chr12:104322092-104325599	GM12878	blood:	n/a	n/a
5	NFIC	chr12:104322006-104324995	GM12878	blood:	n/a	n/a
6	FOXM1	chr12:104322048-104323502	GM12878	blood:	n/a	n/a
7	MAX	chr12:104322072-104325169	GM12878	blood:	n/a	chr12:104324136-104324146 chr12:104322562-104322569 chr12:104324993-104325000 chr12:104324419-104324429 chr12:104323780-104323789 chr12:104324642-104324652 chr12:104323784-104323793 chr12:104323936-104323951 chr12:104322561-104322572 chr12:104324369-104324379
8	YY1	chr12:104321955-104322294	GM12892	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
9	RELA	chr12:104321990-104325291	GM19193	blood:	n/a	n/a
10	YY1	chr12:104321970-104322237	GM12891	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
11	MTA3	chr12:104321890-104325504	GM12878	blood:	n/a	n/a
12	RELA	chr12:104322051-104324458	GM12892	blood:	n/a	n/a
13	BATF	chr12:104322101-104322748	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:104321945-104322327	GM12891	blood:	n/a	n/a
15	YY1	chr12:104321868-104322265	GM12892	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
16	STAT3	chr12:104322202-104324013	GM12878	blood:	n/a	chr12:104323611-104323623 chr12:104323761-104323773 chr12:104322800-104322807
17	BHLHE40	chr12:104322036-104324483	GM12878	blood:	n/a	n/a
18	ATF2	chr12:104321974-104325099	GM12878	blood:	n/a	n/a
19	SP1	chr12:104322007-104323607	GM12878	blood:	n/a	chr12:104323289-104323301
20	PML	chr12:104321903-104325251	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:104321755-104325879	GM12878	blood:	n/a	n/a
22	NFATC1	chr12:104322097-104323582	GM12878	blood:	n/a	chr12:104323198-104323212
23	RELA	chr12:104322078-104324557	GM12878	blood:	n/a	n/a
24	YY1	chr12:104321889-104322346	GM12878	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
25	RELA	chr12:104322015-104325092	GM18951	blood:	n/a	n/a
26	POLR2A	chr12:104321980-104325463	GM18526	blood:	n/a	n/a
27	RELA	chr12:104322058-104324482	GM18505	blood:	n/a	n/a
28	POLR2A	chr12:104320257-104326275	GM12878	blood:	n/a	n/a
29	STAT5A	chr12:104322043-104323967	GM12878	blood:	n/a	chr12:104323611-104323623 chr12:104323761-104323773 chr12:104322800-104322807
30	BCLAF1	chr12:104322075-104323917	GM12878	blood:	n/a	chr12:104323616-104323629 chr12:104323586-104323594 chr12:104323615-104323624 chr12:104323613-104323626
31	PAX5	chr12:104321924-104323423	GM12878	blood:	n/a	chr12:104323218-104323227
32	RELA	chr12:104322026-104324497	GM18526	blood:	n/a	n/a
33	YY1	chr12:104321828-104322299	GM12878	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
34	POLR2A	chr12:104321807-104325757	GM12892	blood:	n/a	n/a
35	POLR2A	chr12:104321980-104325932	GM19099	blood:	n/a	n/a
36	POLR2A	chr12:104322047-104327304	GM12878	blood:	n/a	n/a
37	NFIC	chr12:104322092-104323285	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:104321848-104325604	GM12892	blood:	n/a	n/a
39	YY1	chr12:104321962-104322602	GM12878	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
40	YY1	chr12:104322006-104322270	GM12891	blood:	n/a	chr12:104322088-104322098 chr12:104322088-104322110 chr12:104322089-104322097 chr12:104322087-104322099
41	EP300	chr12:104322030-104325136	GM12878	blood:	n/a	chr12:104324880-104324894 chr12:104323830-104323837
42	TBL1XR1	chr12:104322054-104325554	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:104321935-104326151	GM12891	blood:	n/a	n/a
44	EP300	chr12:104322202-104324461	GM12878	blood:	n/a	chr12:104323830-104323837
45	POLR2A	chr12:104321941-104325434	GM15510	blood:	n/a	n/a
46	MXI1	chr12:104322168-104325493	GM12878	blood:	n/a	chr12:104323780-104323795 chr12:104323778-104323793
47	POLR2A	chr12:104321986-104322291	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:104322001-104325691	GM18505	blood:	n/a	n/a
49	RUNX3	chr12:104321988-104325055	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:104321998-104325551	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104298858..104303101-chr12:104321689..104325332,4	K562	blood:
2	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
3	chr12:104314809..104316668-chr12:104321304..104323532,2	MCF-7	breast:
4	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
5	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
6	chr12:104309007..104311155-chr12:104321580..104324192,3	K562	blood:
7	chr12:104313655..104316610-chr12:104321073..104323844,5	MCF-7	breast:
8	chr12:104317968..104319875-chr12:104322035..104323737,2	MCF-7	breast:
9	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
10	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:

Variant related genes	Relation type
MIR3652	TF binding region
HSP90B1	TF binding region
ENSG00000214198	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10861144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861145	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111812	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs11111814	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11111819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11111820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11111825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11111829	0.81[ASN][1000 genomes]
rs11111833	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111835	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11111837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111844	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111849	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11111850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11830285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11831836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17034931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576974	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2583273	0.93[ASN][1000 genomes]
rs3751206	1.00[CEU][hapmap]
rs3794246	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4135036	1.00[CEU][hapmap]
rs57083451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58943141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315947	0.81[ASN][1000 genomes]
rs73177915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73177918	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177921	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104317200-104322600	Weak transcription	Aorta	Aorta
2	chr12:104318000-104322400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:104319200-104322400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:104319400-104322400	Weak transcription	Osteobl	bone
5	chr12:104319400-104322600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:104319400-104323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104319600-104322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:104319600-104322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:104319600-104322400	Weak transcription	HSMM	muscle
10	chr12:104319600-104322400	Weak transcription	NHEK	skin
11	chr12:104319600-104322600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:104319600-104322600	Weak transcription	HSMMtube	muscle
13	chr12:104319800-104322600	Weak transcription	NH-A	brain
14	chr12:104320200-104322400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:104320800-104322600	Enhancers	Psoas Muscle	Psoas
16	chr12:104320800-104322800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:104321200-104322400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:104321200-104322400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:104321200-104322400	Enhancers	Adipose Nuclei	Adipose
20	chr12:104321200-104322400	Enhancers	Colonic Mucosa	Colon
21	chr12:104321200-104322400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:104321200-104322600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:104321400-104322400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:104321400-104322400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:104321600-104322800	Enhancers	Spleen	Spleen
26	chr12:104322000-104322400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr12:104322000-104322400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:104322000-104322400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:104322000-104322400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:104322000-104322400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:104322000-104322400	Enhancers	Fetal Kidney	kidney
32	chr12:104322000-104322400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr12:104322000-104322400	Enhancers	Right Atrium	heart
34	chr12:104322000-104322400	Flanking Active TSS	HepG2	liver
35	chr12:104322000-104322400	Enhancers	K562	blood
36	chr12:104322000-104322600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:104322000-104322600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:104322000-104322600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr12:104322000-104322600	Enhancers	Brain Germinal Matrix	brain
40	chr12:104322000-104322600	Enhancers	Placenta	Placenta
41	chr12:104322000-104322600	Enhancers	NHLF	lung
42	chr12:104322000-104322800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:104322000-104322800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:104322000-104322800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr12:104322000-104323000	Flanking Active TSS	Dnd41	blood
46	chr12:104322000-104323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:104322000-104323400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:104322000-104323600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr12:104322000-104323600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:104322000-104323600	Flanking Active TSS	Fetal Thymus	thymus

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