Variant report

Variant	rs10151147
Chromosome Location	chr14:24838215-24838216
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	BCL11A	chr14:24838166-24838423	GM12878	blood:	n/a	chr14:24838205-24838214
2	BHLHE40	chr14:24837731-24838376	GM12878	blood:	n/a	chr14:24838143-24838159 chr14:24837936-24837952
3	MTA3	chr14:24837851-24838627	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24835171-24838793	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr14:24837790-24838432	Raji	blood:	n/a	n/a
6	MAX	chr14:24837917-24838425	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr14:24837744-24838379	K562	blood:	n/a	chr14:24837797-24837807
8	PAX5	chr14:24837813-24838368	GM12878	blood:	n/a	n/a
9	TCF12	chr14:24837929-24838273	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr14:24837950-24838307	GM12878	blood:	n/a	chr14:24838033-24838041 chr14:24838149-24838162 chr14:24838205-24838214
11	POU2F2	chr14:24837929-24838341	GM12891	blood:	n/a	chr14:24838191-24838203 chr14:24838025-24838037
12	RAD21	chr14:24837987-24838284	SK-N-SH_RA	brain:	n/a	chr14:24838145-24838157 chr14:24838093-24838105
13	CHD1	chr14:24834050-24838822	IMR90	lung:	n/a	chr14:24835865-24835875
14	RCOR1	chr14:24838125-24838272	GM12878	blood:	n/a	n/a
15	MXI1	chr14:24838036-24838483	GM12878	blood:	n/a	chr14:24838289-24838304
16	CHD2	chr14:24838074-24838372	H1-hESC	embryonic stem cell:	n/a	n/a
17	NFIC	chr14:24837888-24838391	GM12878	blood:	n/a	n/a
18	FOXP2	chr14:24837963-24838305	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr14:24837753-24838579	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:24837834-24838247	GM12878	blood:	n/a	n/a
21	FOXM1	chr14:24837809-24838328	GM12878	blood:	n/a	n/a
22	STAT5A	chr14:24838029-24838765	GM12878	blood:	n/a	chr14:24838667-24838679 chr14:24838060-24838072 chr14:24838062-24838074
23	FOXM1	chr14:24837780-24838407	GM12878	blood:	n/a	n/a
24	EP300	chr14:24837846-24838422	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr14:24837964-24838390	GM12878	blood:	n/a	n/a
26	SP1	chr14:24837762-24838435	H1-hESC	embryonic stem cell:	n/a	chr14:24837848-24837858 chr14:24838057-24838069 chr14:24838059-24838068 chr14:24838057-24838069 chr14:24838058-24838068 chr14:24838065-24838074 chr14:24838065-24838078 chr14:24838160-24838173 chr14:24838270-24838282 chr14:24838058-24838067 chr14:24838057-24838068 chr14:24837908-24837920 chr14:24837844-24837858 chr14:24838058-24838072 chr14:24837848-24837857 chr14:24838272-24838281 chr14:24837909-24837918
27	POLR2A	chr14:24838203-24838237	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr14:24837941-24838439	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr14:24837817-24838287	K562	blood:	n/a	n/a
30	POLR2A	chr14:24834875-24838597	IMR90	lung:	n/a	n/a
31	MAX	chr14:24837843-24838251	K562	blood:	n/a	n/a
32	POLR2A	chr14:24837776-24838320	HUVEC	blood vessel:	n/a	n/a
33	RAD21	chr14:24837950-24838224	IMR90	lung:	n/a	chr14:24838145-24838157 chr14:24837979-24837992 chr14:24838093-24838105
34	POLR2A	chr14:24837547-24838240	GM12878	blood:	n/a	n/a
35	EGR1	chr14:24837909-24838314	K562	blood:	n/a	chr14:24838060-24838073 chr14:24838110-24838124
36	EGR1	chr14:24838007-24838316	K562	blood:	n/a	chr14:24838060-24838073 chr14:24838110-24838124
37	POLR2A	chr14:24838010-24838354	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr14:24837627-24838289	NB4	blood:	n/a	n/a
39	HMGN3	chr14:24838018-24838310	K562	blood:	n/a	n/a
40	YY1	chr14:24837826-24838383	GM12878	blood:	n/a	chr14:24838149-24838160 chr14:24837938-24837952 chr14:24838095-24838103 chr14:24838025-24838036 chr14:24837881-24837895 chr14:24837910-24837921
41	POLR2A	chr14:24838004-24838399	H1-neurons	neurons:	n/a	n/a
42	EP300	chr14:24837985-24838620	GM12878	blood:	n/a	n/a
43	RUNX3	chr14:24837768-24838534	GM12878	blood:	n/a	n/a
44	EGR1	chr14:24837921-24838318	GM12878	blood:	n/a	chr14:24838060-24838073 chr14:24838110-24838124
45	MAX	chr14:24837952-24838405	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr14:24837872-24838355	NB4	blood:	n/a	n/a
47	EGR1	chr14:24837996-24838367	H1-hESC	embryonic stem cell:	n/a	chr14:24838060-24838073 chr14:24838110-24838124
48	RAD21	chr14:24837918-24838328	SK-N-SH_RA	brain:	n/a	chr14:24838145-24838157 chr14:24837979-24837992 chr14:24838275-24838285 chr14:24838093-24838105
49	EP300	chr14:24838004-24838313	GM12878	blood:	n/a	n/a
50	ZNF263	chr14:24838138-24838513	HEK293-T-REx	kidney:	n/a	chr14:24838231-24838240

No.	Distal block	Cell Line	Cell type
1	chr14:24837984..24840011-chr14:24867757..24869920,2	K562	blood:
2	chr14:24833553..24839988-chr14:24894553..24902357,9	K562	blood:
3	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
4	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
5	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
6	chr14:24836675..24839120-chr14:24840231..24842410,2	K562	blood:
7	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
8	chr14:24837386..24841607-chr14:24843315..24846573,5	K562	blood:
9	chr14:24833867..24840783-chr14:24879585..24886299,12	MCF-7	breast:
10	chr14:24833707..24839988-chr14:24896546..24902736,10	K562	blood:

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000100968	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10129213	0.92[ASN][1000 genomes]
rs10141527	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243891	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2332326	0.84[AFR][1000 genomes]
rs2332327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954134	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24834800-24838400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:24834800-24838800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:24835000-24838400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:24835000-24838400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:24835000-24838400	Active TSS	Ovary	ovary
6	chr14:24835000-24838600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24835000-24838600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:24835000-24838600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:24835000-24838800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:24835000-24838800	Active TSS	Fetal Kidney	kidney
11	chr14:24835200-24838400	Active TSS	Aorta	Aorta
12	chr14:24835200-24838600	Active TSS	Right Atrium	heart
13	chr14:24835200-24839200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:24835400-24838400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:24835400-24838400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:24835400-24838400	Active TSS	Placenta Amnion	Placenta Amnion
17	chr14:24835400-24838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:24835600-24838400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:24835600-24838400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:24835600-24838400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr14:24835800-24838600	Active TSS	Gastric	stomach
22	chr14:24836000-24838400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr14:24836200-24838400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:24836200-24838600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:24836200-24838600	Enhancers	Spleen	Spleen
26	chr14:24836400-24838400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr14:24836600-24838600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
28	chr14:24836800-24838600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr14:24837000-24838400	Active TSS	Fetal Lung	lung
30	chr14:24837000-24838400	Bivalent/Poised TSS	Left Ventricle	heart
31	chr14:24837000-24838400	Bivalent Enhancer	GM12878-XiMat	blood
32	chr14:24837000-24838400	Active TSS	NHDF-Ad	bronchial
33	chr14:24837000-24838400	Active TSS	NHLF	lung
34	chr14:24837000-24838600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:24837000-24838600	Active TSS	Primary T cells from cord blood	blood
36	chr14:24837000-24838600	Active TSS	Psoas Muscle	Psoas
37	chr14:24837000-24838800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr14:24837000-24838800	Active TSS	Rectal Smooth Muscle	rectum
39	chr14:24837000-24839000	Active TSS	Right Ventricle	heart
40	chr14:24837200-24838400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:24837200-24838400	Active TSS	Fetal Brain Female	brain
42	chr14:24837200-24838400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
43	chr14:24837200-24838600	Active TSS	Brain Hippocampus Middle	brain
44	chr14:24837400-24838400	Active TSS	HSMM	muscle
45	chr14:24837400-24838600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr14:24837600-24838400	Active TSS	Brain Cingulate Gyrus	brain
47	chr14:24837600-24838600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:24837600-24838600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:24837600-24838800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:24837800-24838400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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