Variant report

Variant	rs36121353
Chromosome Location	chr14:35344948-35344949
allele	A/G
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	MYC	chr14:35342534-35345083	A549	lung:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
2	MYC	chr14:35343999-35344948	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr14:35344305-35345117	SK-N-SH	brain:	n/a	chr14:35344653-35344663 chr14:35345055-35345065
4	GATA3	chr14:35344567-35345027	SH-SY5Y	brain:	n/a	chr14:35344653-35344663
5	PML	chr14:35342100-35344995	GM12878	blood:	n/a	n/a
6	MAX	chr14:35343658-35344985	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:35342002-35345260	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFF	chr14:35344510-35345082	K562	blood:	n/a	n/a
9	MAX	chr14:35342252-35344969	MCF-7	breast:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
10	GATA3	chr14:35344242-35345000	MCF-7	breast:	n/a	chr14:35344653-35344663
11	POLR2A	chr14:35342509-35344952	HL-60	blood:	n/a	n/a
12	POLR2A	chr14:35344220-35344951	SK-N-MC	brain:	n/a	n/a
13	MYC	chr14:35342324-35345185	K562	blood:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
14	ELF1	chr14:35344328-35345008	MCF-7	breast:	n/a	chr14:35344562-35344575
15	SIN3AK20	chr14:35342177-35345066	MCF-7	breast:	n/a	n/a
16	GATA1	chr14:35342316-35345181	PBDE	blood:	n/a	chr14:35344653-35344663 chr14:35345055-35345065
17	MXI1	chr14:35342089-35345455	SK-N-SH	brain:	n/a	n/a
18	BRCA1	chr14:35344489-35345053	Hela-S3	cervix:	n/a	n/a
19	GATA3	chr14:35344164-35345115	SK-N-SH	brain:	n/a	chr14:35344653-35344663 chr14:35345055-35345065
20	CHD1	chr14:35341788-35345348	IMR90	lung:	n/a	chr14:35343373-35343383
21	EP300	chr14:35344398-35345123	GM12878	blood:	n/a	chr14:35344891-35344905 chr14:35344541-35344555
22	MYC	chr14:35342320-35344970	K562	blood:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
23	ELF1	chr14:35344220-35344988	HCT-116	colon:	n/a	chr14:35344261-35344273 chr14:35344562-35344575
24	POLR2A	chr14:35342165-35344949	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:35343863-35344993	HUVEC	blood vessel:	n/a	n/a
26	SIN3AK20	chr14:35344196-35345115	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:35342284-35345090	PBDE	blood:	n/a	n/a
28	TEAD4	chr14:35344268-35344982	HepG2	liver:	n/a	n/a
29	REST	chr14:35342568-35344967	H1-neurons	neurons:	n/a	chr14:35343174-35343194 chr14:35343268-35343281 chr14:35344261-35344274
30	MAX	chr14:35342276-35345042	A549	lung:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
31	YY1	chr14:35344354-35345039	SK-N-SH	brain:	n/a	chr14:35344733-35344742
32	GATA3	chr14:35344187-35345109	A549	lung:	n/a	chr14:35344653-35344663 chr14:35345055-35345065
33	TBP	chr14:35344300-35345180	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:35342121-35344974	GM12892	blood:	n/a	n/a
35	TCF12	chr14:35344114-35345061	A549	lung:	n/a	chr14:35344214-35344221 chr14:35344973-35344982
36	MYBL2	chr14:35344037-35344959	HepG2	liver:	n/a	n/a
37	GATA3	chr14:35344224-35345173	MCF-7	breast:	n/a	chr14:35344653-35344663 chr14:35345055-35345065
38	MAX	chr14:35342473-35344977	A549	lung:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
39	MYC	chr14:35344476-35345291	MCF10A-Er-Src	breast:	n/a	n/a
40	KAP1	chr14:35344317-35345123	HEK293	kidney:	n/a	n/a
41	GATA2	chr14:35344374-35344963	HUVEC	blood vessel:	n/a	chr14:35344653-35344663
42	CHD1	chr14:35342617-35345077	GM12878	blood:	n/a	chr14:35343373-35343383
43	TBP	chr14:35344344-35345222	Hela-S3	cervix:	n/a	n/a
44	MAX	chr14:35344263-35344959	SK-N-SH	brain:	n/a	n/a
45	MAX	chr14:35342359-35344956	HCT-116	colon:	n/a	chr14:35343280-35343289 chr14:35342902-35342912 chr14:35342745-35342755 chr14:35343086-35343096
46	GATA2	chr14:35344257-35344991	SH-SY5Y	brain:	n/a	chr14:35344653-35344663
47	CUX1	chr14:35344638-35345052	GM12878	blood:	n/a	n/a
48	CUX1	chr14:35344497-35344950	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
2	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
3	chr14:35341203..35346354-chr14:35872500..35877183,6	MCF-7	breast:
4	chr14:35342567..35345567-chr14:35590904..35592504,3	MCF-7	breast:
5	chr14:35239285..35241333-chr14:35342948..35344948,2	MCF-7	breast:
6	chr14:35343366..35345021-chr14:35390010..35392504,2	MCF-7	breast:
7	chr14:35343897..35345985-chr7:127725161..127726681,2	MCF-7	breast:
8	chr14:35343382..35345457-chr14:35494554..35496991,2	MCF-7	breast:
9	chr14:35344163..35344999-chr2:58273588..58274207,2	Hela-S3	cervix:
10	chr14:35007550..35010391-chr14:35343012..35345148,2	K562	blood:
11	chr14:35327682..35333013-chr14:35342164..35345913,7	MCF-7	breast:
12	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
13	chr14:35342612..35346213-chr14:35514260..35516898,3	K562	blood:
14	chr14:35341141..35345954-chr14:35450498..35453739,11	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRP54-1	chr14:35343549-35345665	ENSG00000258738.1

Variant related genes	Relation type
BAZ1A	TF binding region
ENSG00000258704	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000258493	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000028116	Chromatin interaction
ENSG00000092020	Chromatin interaction
ENSG00000151327	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11628471	0.92[ASN][1000 genomes]
rs11629136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200394	0.84[ASN][1000 genomes]
rs1200400	0.92[ASN][1000 genomes]
rs1200401	0.92[ASN][1000 genomes]
rs1200402	0.92[ASN][1000 genomes]
rs1200412	1.00[ASN][1000 genomes]
rs1210975	0.84[ASN][1000 genomes]
rs1959156	0.84[ASN][1000 genomes]
rs1959157	0.84[ASN][1000 genomes]
rs2145028	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132964	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55805369	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
8	esv3361541	chr14:35342726-35345574	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35341400-35345400	Active TSS	GM12878-XiMat	blood
2	chr14:35341600-35345200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:35341600-35345400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:35341800-35345000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:35341800-35345000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:35341800-35345000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:35341800-35345000	Active TSS	Fetal Kidney	kidney
8	chr14:35341800-35345000	Active TSS	Psoas Muscle	Psoas
9	chr14:35341800-35345000	Active TSS	NH-A	brain
10	chr14:35341800-35345000	Active TSS	NHLF	lung
11	chr14:35341800-35345200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:35341800-35345200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:35341800-35345200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:35341800-35345200	Active TSS	Stomach Smooth Muscle	stomach
15	chr14:35341800-35345200	Active TSS	Thymus	Thymus
16	chr14:35341800-35345200	Active TSS	HSMMtube	muscle
17	chr14:35341800-35345200	Active TSS	NHDF-Ad	bronchial
18	chr14:35342000-35345000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:35342000-35345000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:35342000-35345000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:35342000-35345000	Active TSS	Primary T cells fromperipheralblood	blood
22	chr14:35342000-35345000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:35342000-35345000	Active TSS	Fetal Intestine Large	intestine
24	chr14:35342000-35345000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:35342000-35345000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:35342000-35345000	Active TSS	HSMM	muscle
27	chr14:35342000-35345200	Active TSS	Colon Smooth Muscle	Colon
28	chr14:35342000-35345200	Active TSS	Fetal Thymus	thymus
29	chr14:35342200-35345000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:35342200-35345000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:35342200-35345000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:35342200-35345000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:35342200-35345000	Active TSS	Brain Angular Gyrus	brain
34	chr14:35342200-35345000	Active TSS	Brain Anterior Caudate	brain
35	chr14:35342200-35345000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:35342200-35345000	Active TSS	Brain Substantia Nigra	brain
37	chr14:35342200-35345000	Active TSS	Fetal Intestine Small	intestine
38	chr14:35342200-35345000	Active TSS	Fetal Lung	lung
39	chr14:35342200-35345000	Active TSS	Fetal Muscle Trunk	muscle
40	chr14:35342200-35345000	Active TSS	Ovary	ovary
41	chr14:35342200-35345000	Active TSS	Stomach Mucosa	stomach
42	chr14:35342200-35345200	Active TSS	H1 Cell Line	embryonic stem cell
43	chr14:35342200-35345200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:35342200-35345200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr14:35342200-35345200	Active TSS	Colonic Mucosa	Colon
46	chr14:35342200-35345200	Active TSS	Fetal Muscle Leg	muscle
47	chr14:35342200-35345200	Active TSS	Right Atrium	heart
48	chr14:35342200-35345200	Active TSS	Right Ventricle	heart
49	chr14:35342200-35345200	Active TSS	A549	lung
50	chr14:35342400-35345000	Active TSS	Primary T killer memory cells from peripheral blood	blood

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