Variant report

Variant	rs10743419
Chromosome Location	chr12:8696857-8696858
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	RAD21	chr12:8696803-8697140	SK-N-SH_RA	brain:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
2	RAD21	chr12:8696850-8697197	K562	blood:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
3	RAD21	chr12:8696825-8697259	Hela-S3	cervix:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
4	RAD21	chr12:8696798-8697160	MCF-7	breast:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
5	CTCF	chr12:8696774-8697159	MCF-7	breast:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
6	RAD21	chr12:8696713-8697321	HCT-116	colon:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
7	E2F4	chr12:8696782-8697396	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr12:8696810-8697222	IMR90	lung:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
9	CTCF	chr12:8696816-8697260	A549	lung:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
10	CTCF	chr12:8696625-8697580	A549	lung:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
11	RAD21	chr12:8696729-8697323	ECC-1	luminal epithelium:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
12	CTCF	chr12:8696820-8696970	WI-38	lung:	n/a	n/a
13	CTCF	chr12:8696798-8697241	GM12878	blood:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
14	RAD21	chr12:8696736-8697330	H1-hESC	embryonic stem cell:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
15	ZNF143	chr12:8696847-8697214	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCLAF1	chr12:8696744-8697287	GM12878	blood:	n/a	chr12:8697034-8697047
17	RAD21	chr12:8696692-8697299	ECC-1	luminal epithelium:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
18	RAD21	chr12:8696843-8697159	SK-N-SH_RA	brain:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
19	RAD21	chr12:8696854-8697202	GM12878	blood:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
20	CTCF	chr12:8696838-8697170	Spleen_OC	spleen:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
21	RAD21	chr12:8696772-8697232	HepG2	liver:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
22	CTCF	chr12:8696846-8697146	HUVEC	blood vessel:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
23	RAD21	chr12:8696767-8697298	HCT-116	colon:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
24	CUX1	chr12:8696846-8697124	GM12878	blood:	n/a	n/a
25	RAD21	chr12:8696826-8697230	H1-hESC	embryonic stem cell:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
26	RFX5	chr12:8696846-8697171	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr12:8696835-8697202	IMR90	lung:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
28	CTCF	chr12:8696830-8697156	HepG2	liver:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
29	YY1	chr12:8696849-8697124	GM12878	blood:	n/a	n/a
30	RAD21	chr12:8696835-8697265	GM12878	blood:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
31	SMC3	chr12:8696744-8697255	GM12878	blood:	n/a	chr12:8697007-8697021
32	CTCF	chr12:8696610-8697422	SK-N-SH	brain:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
33	RAD21	chr12:8696747-8697320	A549	lung:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
34	CEBPB	chr12:8696742-8697029	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr12:8696735-8697369	SK-N-SH	brain:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
36	SMC3	chr12:8696831-8697244	Hela-S3	cervix:	n/a	chr12:8697007-8697021
37	CTCF	chr12:8696857-8697206	K562	blood:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
38	CTCF	chr12:8696805-8697218	K562	blood:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
39	ZNF143	chr12:8696839-8697245	GM12878	blood:	n/a	n/a
40	MYC	chr12:8696844-8697199	NB4	blood:	n/a	n/a
41	RAD21	chr12:8696750-8697293	A549	lung:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
42	CTCF	chr12:8696820-8696970	HAc	cerebellar:	n/a	n/a
43	SMC3	chr12:8696805-8697224	HepG2	liver:	n/a	chr12:8697007-8697021
44	CTCF	chr12:8696854-8697180	T-47D	breast:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
45	CTCF	chr12:8696837-8697180	ECC-1	luminal epithelium:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
46	RAD21	chr12:8696815-8697272	MCF-7	breast:	n/a	chr12:8697007-8697016 chr12:8697006-8697025 chr12:8697007-8697021
47	CTCF	chr12:8696798-8697185	ECC-1	luminal epithelium:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
48	CTCF	chr12:8696823-8697171	Medullo	brain:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
49	CTCF	chr12:8696848-8697115	A549	lung:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022
50	CTCF	chr12:8696853-8697157	Lung_OC	lung:	n/a	chr12:8697007-8697028 chr12:8697005-8697023 chr12:8697008-8697021 chr12:8697009-8697016 chr12:8697006-8697022

No.	Distal block	Cell Line	Cell type
1	chr12:8696628..8697485-chr12:8760059..8760765,2	K562	blood:
2	chr12:8696479..8697067-chr12:8761332..8762088,2	K562	blood:
3	chr12:8696556..8697442-chr12:9201824..9202588,3	K562	blood:
4	chr12:8696425..8698519-chr12:8700227..8702565,2	MCF-7	breast:
5	chr12:8696589..8697753-chr12:8761269..8762276,7	MCF-7	breast:

Variant related genes	Relation type
CLEC4E	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10770845	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841847	0.90[ASN][1000 genomes]
rs4310663	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4620776	0.95[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4883166	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4883167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132177	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7139227	0.90[ASN][1000 genomes]
rs7306903	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307228	0.90[ASN][1000 genomes]
rs7959223	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv557342	chr12:8599397-8774527	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv933050	chr12:8602789-8775989	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv933555	chr12:8627165-8775989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv933639	chr12:8627243-8775989	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv898737	chr12:8673277-8726911	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	esv3430375	chr12:8693691-8718887	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8694400-8697000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:8694600-8697200	Weak transcription	GM12878-XiMat	blood
3	chr12:8694800-8697600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:8696600-8697400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr12:8696600-8697400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:8696600-8697400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:8696600-8697400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:8696600-8697800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:8696800-8697000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
10	chr12:8696800-8697000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:8696800-8697600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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