Variant report

Variant	rs7923004
Chromosome Location	chr10:112678091-112678092
allele	A/C
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	chr10:112677940-112679208	U87	brain:	n/a	n/a
2	PRDM1	chr10:112677795-112678471	Hela-S3	cervix:	n/a	chr10:112678278-112678293 chr10:112678283-112678292 chr10:112678279-112678292 chr10:112678279-112678293
3	IRF1	chr10:112678081-112679202	K562	blood:	n/a	chr10:112678359-112678373 chr10:112679118-112679127
4	POLR2A	chr10:112677286-112679707	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:112678059-112679712	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr10:112678037-112679803	ECC-1	luminal epithelium:	n/a	n/a
7	PML	chr10:112678079-112679284	MCF-7	breast:	n/a	n/a
8	RELA	chr10:112678080-112679554	GM10847	blood:	n/a	n/a
9	POU2F2	chr10:112677960-112679274	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:112678015-112678414	U87	brain:	n/a	n/a
11	POLR2A	chr10:112677941-112679250	PANC-1	pancreas:	n/a	n/a
12	CTCF	chr10:112678000-112678150	NHDF-neo	bronchial:	n/a	chr10:112678065-112678073
13	POLR2A	chr10:112678051-112679648	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr10:112677956-112680323	MCF-7	breast:	n/a	n/a
15	RELA	chr10:112677966-112679552	GM19099	blood:	n/a	n/a
16	RCOR1	chr10:112678068-112679620	Hela-S3	cervix:	n/a	n/a
17	SIN3A	chr10:112678025-112680453	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr10:112677540-112680807	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr10:112677929-112678100	GM12878	blood:	n/a	n/a
20	HEY1	chr10:112678067-112679233	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:112678014-112679779	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr10:112677978-112679564	MCF-7	breast:	n/a	n/a
23	CTBP2	chr10:112678011-112679600	H1-hESC	embryonic stem cell:	n/a	n/a
24	FOXM1	chr10:112677872-112679237	GM12878	blood:	n/a	n/a
25	GABPA	chr10:112678074-112679553	MCF-7	breast:	n/a	n/a
26	SP1	chr10:112678069-112679443	H1-hESC	embryonic stem cell:	n/a	chr10:112679254-112679268 chr10:112678309-112678319 chr10:112679244-112679256 chr10:112679164-112679185 chr10:112679251-112679260 chr10:112678458-112678467 chr10:112679244-112679256 chr10:112678363-112678372 chr10:112679241-112679255 chr10:112679251-112679260 chr10:112678348-112678357 chr10:112678457-112678469 chr10:112679245-112679255 chr10:112679250-112679259 chr10:112679246-112679255 chr10:112678347-112678359 chr10:112678457-112678469 chr10:112678361-112678373 chr10:112678459-112678468
27	BCLAF1	chr10:112678073-112679199	GM12878	blood:	n/a	chr10:112678348-112678357 chr10:112678374-112678387 chr10:112678465-112678478
28	ZNF263	chr10:112678058-112680780	HEK293-T-REx	kidney:	n/a	n/a
29	POLR2A	chr10:112678091-112679667	GM12878	blood:	n/a	n/a
30	MAX	chr10:112677899-112679291	ECC-1	luminal epithelium:	n/a	n/a
31	MYBL2	chr10:112677987-112679302	HepG2	liver:	n/a	n/a
32	MAX	chr10:112678026-112678858	K562	blood:	n/a	n/a
33	MXI1	chr10:112678052-112679686	GM12878	blood:	n/a	n/a
34	CHD1	chr10:112678091-112679104	GM12878	blood:	n/a	chr10:112678459-112678469
35	MAX	chr10:112678068-112679528	SK-N-SH	brain:	n/a	n/a
36	NR2F2	chr10:112677986-112679122	K562	blood:	n/a	n/a
37	POLR2A	chr10:112678053-112679624	GM12891	blood:	n/a	n/a
38	TBP	chr10:112678084-112679642	K562	blood:	n/a	n/a
39	SP1	chr10:112678055-112679436	A549	lung:	n/a	chr10:112679254-112679268 chr10:112678309-112678319 chr10:112679244-112679256 chr10:112679164-112679185 chr10:112679251-112679260 chr10:112678458-112678467 chr10:112679244-112679256 chr10:112678363-112678372 chr10:112679241-112679255 chr10:112679251-112679260 chr10:112678348-112678357 chr10:112678457-112678469 chr10:112679245-112679255 chr10:112679250-112679259 chr10:112679246-112679255 chr10:112678347-112678359 chr10:112678457-112678469 chr10:112678361-112678373 chr10:112678459-112678468
40	POLR2A	chr10:112677864-112679724	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr10:112678087-112679634	K562	blood:	n/a	n/a
42	RELA	chr10:112678042-112679551	GM18951	blood:	n/a	n/a
43	POLR2A	chr10:112678076-112679204	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr10:112678020-112678170	HCPEpiC	choroid plexus:	n/a	chr10:112678065-112678073
45	RFX5	chr10:112677365-112680528	SK-N-SH	brain:	n/a	chr10:112680005-112680019
46	POLR2A	chr10:112678021-112679709	Hela-S3	cervix:	n/a	n/a
47	EGR1	chr10:112677873-112679622	HCT-116	colon:	n/a	chr10:112678304-112678317 chr10:112678304-112678317 chr10:112678300-112678322 chr10:112678304-112678318 chr10:112678305-112678316 chr10:112678456-112678465 chr10:112678306-112678316
48	CTCF	chr10:112678020-112678170	AG09319	gingival:	n/a	chr10:112678065-112678073
49	POLR2A	chr10:112678052-112679596	Hela-S3	cervix:	n/a	n/a
50	PML	chr10:112678077-112679199	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:112654963..112658264-chr10:112677155..112680097,3	MCF-7	breast:
2	chr10:112675807..112678772-chr10:112678882..112681031,3	MCF-7	breast:
3	chr10:112630522..112633740-chr10:112677502..112680452,8	K562	blood:
4	chr10:112639365..112641383-chr10:112676390..112678165,2	K562	blood:
5	chr10:112676831..112678355-chr10:112724209..112726416,2	MCF-7	breast:
6	chr10:112677828..112678683-chr16:777302..778639,3	Hela-S3	cervix:
7	chr10:112677742..112679922-chr10:112696330..112699215,3	K562	blood:
8	chr10:112664345..112669629-chr10:112675236..112680543,10	K562	blood:
9	chr10:112514937..112517303-chr10:112677339..112679296,2	K562	blood:
10	chr10:112669336..112671056-chr10:112676256..112678395,2	MCF-7	breast:
11	chr10:112630838..112635784-chr10:112676837..112681433,10	K562	blood:
12	chr10:112677485..112680905-chr10:112696350..112700143,5	K562	blood:
13	chr10:112537994..112539517-chr10:112676167..112678345,2	MCF-7	breast:

Variant related genes	Relation type
SHOC2	TF binding region
ENSG00000108061	Chromatin interaction
ENSG00000103253	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000234118	Chromatin interaction
ENSG00000252036	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000150593	Chromatin interaction
ENSG00000270589	Chromatin interaction
ENSG00000265827	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10885075	0.85[GIH][hapmap]
rs11195368	1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.95[EUR][1000 genomes]
rs11195373	0.95[EUR][1000 genomes]
rs11195376	1.00[EUR][1000 genomes]
rs11195409	0.89[EUR][1000 genomes]
rs11592186	1.00[EUR][1000 genomes]
rs11592376	0.94[EUR][1000 genomes]
rs11593462	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11593479	1.00[EUR][1000 genomes]
rs11593592	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11593866	0.89[EUR][1000 genomes]
rs11597120	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11597460	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11597928	0.92[EUR][1000 genomes]
rs11812232	0.89[EUR][1000 genomes]
rs11812855	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11813262	1.00[EUR][1000 genomes]
rs11813593	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11814418	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs11814686	1.00[EUR][1000 genomes]
rs11816033	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11816247	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[EUR][1000 genomes]
rs11816269	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11816396	1.00[EUR][1000 genomes]
rs11818060	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11818747	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11818761	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11818771	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11818869	1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1322997	1.00[GIH][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1327556	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1535559	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17128189	1.00[CEU][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1885796	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs34104444	1.00[EUR][1000 genomes]
rs4917589	0.90[GIH][hapmap]
rs55647014	0.95[EUR][1000 genomes]
rs55858908	0.95[EUR][1000 genomes]
rs56237211	0.95[EUR][1000 genomes]
rs60633872	1.00[EUR][1000 genomes]
rs60681723	0.92[EUR][1000 genomes]
rs60877808	0.89[EUR][1000 genomes]
rs61469604	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6585018	1.00[ASW][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6585020	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7081726	1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156304	0.84[EUR][1000 genomes]
rs74156305	0.97[EUR][1000 genomes]
rs74156307	0.92[EUR][1000 genomes]
rs74156308	0.95[EUR][1000 genomes]
rs74156309	1.00[EUR][1000 genomes]
rs74156310	1.00[EUR][1000 genomes]
rs74156311	1.00[EUR][1000 genomes]
rs74156320	1.00[EUR][1000 genomes]
rs74156323	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1047865	chr10:112660427-112730573	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112632800-112678200	Weak transcription	Spleen	Spleen
2	chr10:112677200-112678200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:112677400-112678200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:112677400-112678200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:112677400-112678200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:112677400-112678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:112677400-112678200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:112677400-112678200	Flanking Active TSS	NH-A	brain
9	chr10:112677400-112681000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:112677400-112681200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:112677400-112681200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:112677400-112684000	Active TSS	GM12878-XiMat	blood
13	chr10:112677600-112678200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr10:112677600-112678200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:112677600-112678200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr10:112677600-112678200	Flanking Active TSS	Liver	Liver
17	chr10:112677600-112678200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr10:112677600-112678200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr10:112677600-112678200	Flanking Active TSS	Fetal Brain Female	brain
20	chr10:112677600-112678200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr10:112677600-112678200	Flanking Active TSS	Dnd41	blood
22	chr10:112677600-112678200	Flanking Active TSS	Osteobl	bone
23	chr10:112677600-112678400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr10:112677600-112679000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr10:112677600-112680400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:112677600-112680400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:112677600-112680800	Active TSS	Aorta	Aorta
28	chr10:112677600-112680800	Active TSS	Psoas Muscle	Psoas
29	chr10:112677600-112681000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr10:112677600-112681000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr10:112677600-112681000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:112677600-112681000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:112677600-112681000	Active TSS	Colonic Mucosa	Colon
34	chr10:112677600-112681000	Active TSS	Fetal Stomach	stomach
35	chr10:112677600-112681000	Active TSS	Fetal Thymus	thymus
36	chr10:112677600-112681000	Active TSS	Right Atrium	heart
37	chr10:112677600-112681000	Active TSS	Right Ventricle	heart
38	chr10:112677600-112681200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:112677600-112682000	Active TSS	NHLF	lung
40	chr10:112677800-112678200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr10:112677800-112678200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr10:112677800-112678200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr10:112677800-112678200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr10:112677800-112678200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:112677800-112678400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr10:112677800-112678400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr10:112677800-112678400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr10:112677800-112678400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:112677800-112680600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:112677800-112680600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links