Variant report

Variant	rs10144907
Chromosome Location	chr14:68085740-68085741
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	RCOR1	chr14:68085359-68085758	K562	blood:	n/a	n/a
2	POLR2A	chr14:68085649-68086979	PBDE	blood:	n/a	n/a
3	CTCF	chr14:68085229-68086024	SK-N-SH	brain:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
4	RAD21	chr14:68085332-68085742	Hela-S3	cervix:	n/a	chr14:68085514-68085533
5	SMC3	chr14:68085330-68085832	GM12878	blood:	n/a	chr14:68085515-68085529 chr14:68085515-68085523
6	RAD21	chr14:68085311-68085864	MCF-7	breast:	n/a	chr14:68085514-68085533
7	RAD21	chr14:68085317-68085747	IMR90	lung:	n/a	chr14:68085514-68085533
8	RAD21	chr14:68085252-68085803	HCT-116	colon:	n/a	chr14:68085514-68085533
9	SMC3	chr14:68085341-68085744	HepG2	liver:	n/a	chr14:68085515-68085529 chr14:68085515-68085523
10	MXI1	chr14:68085463-68085888	K562	blood:	n/a	chr14:68085596-68085611 chr14:68085594-68085609
11	CTCF	chr14:68085364-68085817	MCF-7	breast:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
12	RAD21	chr14:68085264-68085772	H1-hESC	embryonic stem cell:	n/a	chr14:68085514-68085533
13	MXI1	chr14:68085389-68085770	HepG2	liver:	n/a	chr14:68085596-68085611 chr14:68085594-68085609
14	RAD21	chr14:68085269-68085818	ECC-1	luminal epithelium:	n/a	chr14:68085514-68085533
15	RAD21	chr14:68085284-68085809	MCF-7	breast:	n/a	chr14:68085514-68085533
16	CTCF	chr14:68085344-68085759	K562	blood:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
17	RAD21	chr14:68085247-68085904	A549	lung:	n/a	chr14:68085514-68085533
18	RAD21	chr14:68085255-68085885	HCT-116	colon:	n/a	chr14:68085514-68085533
19	MAX	chr14:68085386-68085751	NB4	blood:	n/a	chr14:68085596-68085605 chr14:68085600-68085609
20	SMC3	chr14:68085312-68085781	Hela-S3	cervix:	n/a	chr14:68085515-68085529 chr14:68085515-68085523
21	RAD21	chr14:68085272-68085792	ECC-1	luminal epithelium:	n/a	chr14:68085514-68085533
22	TCF7L2	chr14:68085465-68085832	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:68085519-68088093	MCF10A-Er-Src	breast:	n/a	n/a
24	MXI1	chr14:68085406-68085740	GM12878	blood:	n/a	chr14:68085596-68085611 chr14:68085594-68085609
25	CTCF	chr14:68085312-68085760	A549	lung:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
26	CTCF	chr14:68085272-68087001	A549	lung:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525 chr14:68086615-68086628
27	RAD21	chr14:68085164-68085974	SK-N-SH	brain:	n/a	chr14:68085514-68085533
28	CTCF	chr14:68085282-68085752	HepG2	liver:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
29	MYC	chr14:68085458-68085967	MCF10A-Er-Src	breast:	n/a	chr14:68085596-68085605 chr14:68085600-68085609
30	MXI1	chr14:68085190-68087653	SK-N-SH	brain:	n/a	chr14:68085596-68085611 chr14:68085594-68085609
31	FOXM1	chr14:68085329-68085754	GM12878	blood:	n/a	n/a
32	CTCF	chr14:68085236-68085868	HCT-116	colon:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
33	SMC3	chr14:68085164-68085945	SK-N-SH	brain:	n/a	chr14:68085515-68085529 chr14:68085515-68085523
34	RAD21	chr14:68085323-68085752	HepG2	liver:	n/a	chr14:68085514-68085533
35	CTCF	chr14:68085233-68085828	MCF-7	breast:	n/a	chr14:68085515-68085536 chr14:68085513-68085531 chr14:68085516-68085525
36	TCF7L2	chr14:68085545-68086153	HEK293	kidney:	n/a	n/a
37	MAZ	chr14:68085371-68087514	IMR90	lung:	n/a	chr14:68086577-68086586 chr14:68085596-68085605 chr14:68086502-68086512 chr14:68085600-68085609
38	MYC	chr14:68085470-68085765	MCF10A-Er-Src	breast:	n/a	chr14:68085596-68085605 chr14:68085600-68085609
39	KAP1	chr14:68085635-68085945	K562	blood:	n/a	n/a
40	RAD21	chr14:68085298-68085769	SK-N-SH_RA	brain:	n/a	chr14:68085514-68085533
41	TCF7L2	chr14:68085461-68085861	PANC-1	pancreas:	n/a	n/a
42	REST	chr14:68085375-68088227	H1-neurons	neurons:	n/a	chr14:68086528-68086538 chr14:68086499-68086512

No.	Distal block	Cell Line	Cell type
1	chr14:68085642..68086241-chr14:68107297..68108232,2	K562	blood:
2	chr14:68080492..68083154-chr14:68084314..68086467,2	K562	blood:
3	chr14:68085513..68087982-chr14:68140363..68143281,3	MCF-7	breast:
4	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
5	chr14:68085030..68085991-chr14:68170815..68171645,4	MCF-7	breast:
6	chr14:68084933..68087068-chr14:68140888..68143794,2	K562	blood:
7	chr14:68085058..68086009-chr14:68133588..68134559,4	K562	blood:
8	chr14:68085038..68085996-chr14:68170872..68171824,5	K562	blood:
9	chr14:68081217..68082953-chr14:68085060..68086622,2	K562	blood:
10	chr14:68085072..68086044-chr14:68133285..68134461,6	MCF-7	breast:
11	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
12	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
13	chr14:67992996..67993711-chr14:68085016..68085967,2	MCF-7	breast:
14	chr14:68084877..68086420-chr14:68124649..68127508,2	MCF-7	breast:
15	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201529	TF binding region
ARG2	TF binding region
ENSG00000259648	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000072042	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131884	1.00[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133414	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134090	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134923	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135791	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139933	1.00[AMR][1000 genomes]
rs10140733	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145465	0.96[AFR][1000 genomes]
rs10146550	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150006	1.00[AFR][1000 genomes]
rs10150340	1.00[AFR][1000 genomes]
rs11846441	0.86[ASW][hapmap]
rs17104480	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104482	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104486	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104495	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104501	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104512	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2320030	0.86[ASW][hapmap]
rs28368810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28449642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28457193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28547499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28549243	1.00[AMR][1000 genomes]
rs28575699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899215	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs8017597	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68076800-68086200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68082400-68086000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:68082800-68085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:68085200-68086000	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:68085200-68086000	Enhancers	Brain Angular Gyrus	brain
6	chr14:68085400-68085800	Enhancers	Brain Substantia Nigra	brain
7	chr14:68085400-68085800	Enhancers	Colon Smooth Muscle	Colon
8	chr14:68085400-68085800	Enhancers	A549	lung
9	chr14:68085400-68086000	Enhancers	HMEC	breast
10	chr14:68085600-68085800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:68085600-68085800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:68085600-68085800	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:68085600-68085800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:68085600-68085800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:68085600-68085800	Enhancers	Brain Anterior Caudate	brain
16	chr14:68085600-68085800	Enhancers	Fetal Kidney	kidney
17	chr14:68085600-68085800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr14:68085600-68085800	Enhancers	GM12878-XiMat	blood
19	chr14:68085600-68085800	Flanking Active TSS	HepG2	liver
20	chr14:68085600-68085800	Enhancers	K562	blood
21	chr14:68085600-68085800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:68085600-68085800	Enhancers	NH-A	brain
23	chr14:68085600-68086000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:68085600-68086000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:68085600-68086000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:68085600-68086000	Enhancers	Primary B cells from cord blood	blood
27	chr14:68085600-68086000	Enhancers	Primary T cells from cord blood	blood
28	chr14:68085600-68086000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr14:68085600-68086000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr14:68085600-68086000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:68085600-68086000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:68085600-68086000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:68085600-68086000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:68085600-68086000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:68085600-68086000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:68085600-68086000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:68085600-68086000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr14:68085600-68086000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:68085600-68086000	Enhancers	Adipose Nuclei	Adipose
40	chr14:68085600-68086000	Enhancers	Brain Cingulate Gyrus	brain
41	chr14:68085600-68086000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr14:68085600-68086000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:68085600-68086000	Enhancers	Duodenum Mucosa	Duodenum
44	chr14:68085600-68086000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:68085600-68086000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:68085600-68086000	Enhancers	Fetal Intestine Large	intestine
47	chr14:68085600-68086000	Enhancers	Fetal Intestine Small	intestine
48	chr14:68085600-68086000	Enhancers	Fetal Muscle Leg	muscle
49	chr14:68085600-68086000	Enhancers	Placenta	Placenta
50	chr14:68085600-68086000	Enhancers	Fetal Thymus	thymus

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