Variant report

Variant	rs10138891
Chromosome Location	chr14:105947959-105947960
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	RELA	chr14:105947865-105948647	GM19099	blood:	n/a	n/a
2	HDAC2	chr14:105946589-105949036	MCF-7	breast:	n/a	n/a
3	ZBTB7A	chr14:105947674-105948002	K562	blood:	n/a	n/a
4	SRF	chr14:105947107-105948072	ECC-1	luminal epithelium:	n/a	n/a
5	SIX5	chr14:105947040-105948028	A549	lung:	n/a	n/a
6	POLR2A	chr14:105947214-105948040	A549	lung:	n/a	n/a
7	POLR2A	chr14:105946245-105949689	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr14:105947252-105948021	H1-hESC	embryonic stem cell:	n/a	n/a
9	STAT5A	chr14:105947228-105948035	GM12878	blood:	n/a	chr14:105947315-105947327 chr14:105947597-105947609
10	MAX	chr14:105947101-105948916	ECC-1	luminal epithelium:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
11	MXI1	chr14:105947045-105949128	IMR90	lung:	n/a	chr14:105948389-105948404 chr14:105948391-105948406
12	JUND	chr14:105947134-105948690	A549	lung:	n/a	n/a
13	GTF2F1	chr14:105947813-105948038	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr14:105947112-105948708	Hela-S3	cervix:	n/a	n/a
15	ESR1	chr14:105947303-105948055	ECC-1	luminal epithelium:	n/a	n/a
16	TEAD4	chr14:105947093-105948514	A549	lung:	n/a	n/a
17	MYC	chr14:105946731-105948076	A549	lung:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
18	NR3C1	chr14:105947665-105947999	A549	lung:	n/a	n/a
19	MAZ	chr14:105947119-105948755	Hela-S3	cervix:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
20	POLR2A	chr14:105947329-105948022	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr14:105947033-105948045	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr14:105947271-105948059	A549	lung:	n/a	n/a
23	TBP	chr14:105947863-105948006	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:105945628-105949140	MCF-7	breast:	n/a	n/a
25	STAT1	chr14:105947209-105947999	GM12878	blood:	n/a	chr14:105947315-105947327 chr14:105947597-105947609
26	ZNF143	chr14:105947168-105948617	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:105946952-105948041	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:105947073-105948061	MCF-7	breast:	n/a	n/a
29	GATA3	chr14:105946948-105948788	A549	lung:	n/a	chr14:105948332-105948342
30	CEBPB	chr14:105947453-105948077	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr14:105947064-105950063	HepG2	liver:	n/a	n/a
32	FOXM1	chr14:105947253-105948185	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr14:105946969-105949086	A549	lung:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
34	MYC	chr14:105947205-105948703	MCF10A-Er-Src	breast:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
35	MYC	chr14:105947802-105948786	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr14:105947097-105948104	MCF-7	breast:	n/a	chr14:105947545-105947559 chr14:105947363-105947382 chr14:105947364-105947378 chr14:105947367-105947376 chr14:105947365-105947372
37	PBX3	chr14:105947083-105948687	A549	lung:	n/a	chr14:105947151-105947160 chr14:105947195-105947215
38	NFIC	chr14:105947031-105948121	SK-N-SH	brain:	n/a	chr14:105947797-105947814 chr14:105947798-105947814
39	MXI1	chr14:105946969-105949014	SK-N-SH	brain:	n/a	chr14:105948389-105948404 chr14:105948391-105948406
40	SP1	chr14:105946926-105948803	A549	lung:	n/a	chr14:105947317-105947329 chr14:105947206-105947219 chr14:105948659-105948673 chr14:105947319-105947328
41	MAX	chr14:105947109-105948632	Hela-S3	cervix:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
42	POLR2A	chr14:105946671-105948053	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr14:105947140-105948063	HCT-116	colon:	n/a	n/a
44	TAF1	chr14:105947654-105947986	SK-N-SH	brain:	n/a	n/a
45	EP300	chr14:105947186-105948624	GM12878	blood:	n/a	chr14:105948049-105948058
46	ELF1	chr14:105947070-105948013	GM12878	blood:	n/a	n/a
47	TAF1	chr14:105947647-105948051	K562	blood:	n/a	n/a
48	MAX	chr14:105947229-105948076	SK-N-SH	brain:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
49	MAZ	chr14:105947175-105947990	K562	blood:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
50	TCF7L2	chr14:105947875-105948629	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105946928..105948485-chr14:105955764..105957474,8	MCF-7	breast:
2	chr14:105766285..105767822-chr14:105945911..105948679,2	MCF-7	breast:
3	chr14:105863141..105865486-chr14:105947298..105949240,2	K562	blood:
4	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
5	chr14:105947633..105948472-chr20:43976732..43977472,2	Hela-S3	cervix:
6	chr14:105883580..105888149-chr14:105947638..105952467,6	MCF-7	breast:
7	chr12:49658495..49659311-chr14:105947279..105947991,2	HCT-116	colon:
8	chr14:105879192..105880978-chr14:105946583..105949410,2	MCF-7	breast:
9	chr14:105947383..105948265-chr14:105957704..105958599,2	K562	blood:
10	chr14:105947167..105948061-chr3:12486020..12486562,2	Hela-S3	cervix:
11	chr14:105947702..105948500-chr20:44599711..44600453,2	Hela-S3	cervix:
12	chr14:105901633..105904237-chr14:105946344..105949150,3	MCF-7	breast:
13	chr14:105925538..105928214-chr14:105946685..105948509,2	K562	blood:
14	chr14:105713738..105716162-chr14:105946166..105948343,2	MCF-7	breast:
15	chr14:105946647..105948865-chr14:105955547..105957370,23	MCF-7	breast:
16	chr14:105945980..105950779-chr14:105991667..105994836,5	K562	blood:
17	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
18	chr14:105932715..105935699-chr14:105947467..105949980,2	K562	blood:
19	chr14:105945919..105949902-chr14:105993265..105997331,11	MCF-7	breast:
20	chr14:105862874..105866826-chr14:105946373..105950090,5	K562	blood:
21	chr14:105946608..105948237-chr14:106000945..106003342,2	MCF-7	breast:
22	chr13:111367221..111367997-chr14:105947882..105948811,2	Hela-S3	cervix:
23	chr14:105839425..105843389-chr14:105946239..105949044,4	MCF-7	breast:
24	chr14:105946210..105948124-chr17:59469591..59472148,2	MCF-7	breast:
25	chr14:105932715..105935765-chr14:105945962..105949980,4	K562	blood:
26	chr14:105862539..105866268-chr14:105946890..105950237,5	MCF-7	breast:
27	chr14:105925538..105928214-chr14:105944900..105948509,4	K562	blood:
28	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
29	chr14:105905481..105908435-chr14:105945567..105949931,4	MCF-7	breast:
30	chr14:105887212..105890190-chr14:105946793..105948688,2	K562	blood:
31	chr14:105870531..105872193-chr14:105947372..105949251,2	MCF-7	breast:
32	chr14:105947106..105948260-chr14:105956746..105957672,3	K562	blood:
33	chr14:105947026..105949255-chr6:30576466..30577973,2	MCF-7	breast:

Variant related genes	Relation type
CRIP1	TF binding region
ENSG00000124145	Chromatin interaction
ENSG00000184887	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000242085	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000267280	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10135326	0.85[AMR][1000 genomes]
rs10782498	0.82[AFR][1000 genomes]
rs11160845	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323571	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13707	0.93[AMR][1000 genomes]
rs4074000	0.82[YRI][hapmap]
rs4983412	0.93[AMR][1000 genomes]
rs4983414	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983418	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983419	0.93[AMR][1000 genomes]
rs4983422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983423	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59732071	0.82[AFR][1000 genomes]
rs7140395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160858	0.82[AMR][1000 genomes]
rs73362069	1.00[AMR][1000 genomes]
rs7492892	0.93[AMR][1000 genomes]
rs7493450	0.93[AMR][1000 genomes]
rs7493964	0.85[YRI][hapmap]
rs8005552	0.86[AMR][1000 genomes]
rs8012089	0.96[AFR][1000 genomes];1.00[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105943200-105949400	Enhancers	Fetal Brain Male	brain
2	chr14:105946600-105949000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr14:105946600-105951200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:105946800-105948000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr14:105946800-105948000	Flanking Active TSS	Hela-S3	cervix
6	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:105947000-105948000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:105947000-105948000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:105947000-105948000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr14:105947000-105948000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:105947000-105948000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:105947000-105948000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:105947000-105948000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr14:105947000-105948000	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr14:105947000-105948000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr14:105947000-105948000	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr14:105947000-105948000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr14:105947000-105948800	Flanking Active TSS	Fetal Brain Female	brain
19	chr14:105947000-105948800	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr14:105947000-105949000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr14:105947000-105949000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:105947000-105949200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:105947000-105949400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:105947000-105951200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:105947000-105952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:105947200-105948000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr14:105947200-105948000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:105947200-105948000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:105947200-105948000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr14:105947200-105948000	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr14:105947200-105948000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:105947200-105948000	Flanking Active TSS	Fetal Lung	lung
34	chr14:105947200-105948000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr14:105947200-105948000	Flanking Active TSS	Dnd41	blood
36	chr14:105947200-105948800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:105947200-105949000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr14:105947200-105953400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:105947400-105948000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
40	chr14:105947400-105948000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
41	chr14:105947400-105948000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:105947400-105948000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:105947400-105948000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr14:105947400-105948000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:105947400-105948000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr14:105947400-105948000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr14:105947400-105948000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:105947400-105948000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:105947400-105948000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:105947400-105948000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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