Variant report

Variant	rs529400572
Chromosome Location	chr14:65879172-65879173
allele	C/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	RAD21	chr14:65879110-65879264	K562	blood:	n/a	chr14:65879191-65879210
2	CTCF	chr14:65879100-65879250	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr14:65879080-65879230	K562	blood:	n/a	n/a
4	EBF1	chr14:65879107-65879533	GM12878	blood:	n/a	n/a
5	CTCF	chr14:65879160-65879310	GM12871	blood:	n/a	n/a
6	REST	chr14:65878916-65880197	H1-neurons	neurons:	n/a	chr14:65880013-65880026 chr14:65880016-65880029 chr14:65879465-65879478 chr14:65879166-65879179
7	TAF1	chr14:65878277-65879597	MCF-7	breast:	n/a	n/a
8	ZNF263	chr14:65878053-65879887	HEK293-T-REx	kidney:	n/a	n/a
9	SP1	chr14:65879016-65879526	GM12878	blood:	n/a	chr14:65879341-65879350 chr14:65879339-65879351 chr14:65879339-65879351 chr14:65879341-65879350 chr14:65879336-65879350 chr14:65879340-65879349
10	CTCF	chr14:65879093-65879351	ECC-1	luminal epithelium:	n/a	n/a
11	NFATC1	chr14:65879019-65879536	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:65878319-65880001	A549	lung:	n/a	n/a
13	JUND	chr14:65878219-65879554	MCF-7	breast:	n/a	chr14:65878509-65878518 chr14:65878550-65878559
14	CTCF	chr14:65879038-65879325	GM13977	blood:	n/a	n/a
15	TAF1	chr14:65879046-65879543	GM12891	blood:	n/a	n/a
16	CTCF	chr14:65879058-65879390	A549	lung:	n/a	n/a
17	RELA	chr14:65878467-65879932	GM18951	blood:	n/a	n/a
18	CTCF	chr14:65879080-65879230	HA-sp	spinal cord:	n/a	n/a
19	TBP	chr14:65878226-65879498	Hela-S3	cervix:	n/a	n/a
20	REST	chr14:65878982-65879387	HL-60	blood:	n/a	chr14:65879166-65879179
21	CTCF	chr14:65879140-65879290	Caco-2	colon:	n/a	n/a
22	SIN3AK20	chr14:65878148-65880348	MCF-7	breast:	n/a	n/a
23	POLR2A	chr14:65878315-65879844	HUVEC	blood vessel:	n/a	n/a
24	RELA	chr14:65878258-65879928	GM15510	blood:	n/a	n/a
25	POLR2A	chr14:65878978-65879611	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr14:65877779-65880666	GM12892	blood:	n/a	n/a
27	CTCF	chr14:65879140-65879290	NHEK	skin:	n/a	n/a
28	CTCF	chr14:65879140-65879290	GM12868	blood:	n/a	n/a
29	CTCF	chr14:65879119-65879299	GM20000	blood:	n/a	n/a
30	JUND	chr14:65879063-65879411	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr14:65879014-65879542	H1-hESC	embryonic stem cell:	n/a	chr14:65879231-65879245 chr14:65879340-65879349 chr14:65879384-65879398
32	TAF1	chr14:65878344-65880520	H1-neurons	neurons:	n/a	n/a
33	MXI1	chr14:65878527-65879876	HepG2	liver:	n/a	n/a
34	EP300	chr14:65878950-65879498	H1-hESC	embryonic stem cell:	n/a	chr14:65879388-65879397
35	RAD21	chr14:65878439-65879917	MCF-7	breast:	n/a	chr14:65879378-65879390 chr14:65879191-65879210
36	FOXA2	chr14:65878987-65879568	A549	lung:	n/a	n/a
37	POLR2A	chr14:65879105-65879298	K562	blood:	n/a	n/a
38	MAZ	chr14:65878366-65880367	Hela-S3	cervix:	n/a	chr14:65879334-65879344
39	YY1	chr14:65879110-65879556	GM12891	blood:	n/a	chr14:65879231-65879245 chr14:65879340-65879349 chr14:65879384-65879398
40	POLR2A	chr14:65878080-65880573	Raji	blood:	n/a	n/a
41	CTBP2	chr14:65878437-65880458	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr14:65878966-65879368	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:65877745-65880761	GM12892	blood:	n/a	n/a
44	MYC	chr14:65879031-65879535	H1-hESC	embryonic stem cell:	n/a	chr14:65879334-65879344
45	CTCF	chr14:65878998-65879339	SK-N-SH_RA	brain:	n/a	n/a
46	PAX5	chr14:65878956-65879547	GM12892	blood:	n/a	chr14:65879514-65879523
47	POLR2A	chr14:65878308-65879548	GM12891	blood:	n/a	n/a
48	ATF2	chr14:65879101-65879487	GM12878	blood:	n/a	n/a
49	BACH1	chr14:65879013-65879315	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFATC1	chr14:65878330-65879548	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65700230..65702841-chr14:65877569..65880268,3	MCF-7	breast:
2	chr14:65700105..65703075-chr14:65877781..65880441,2	MCF-7	breast:
3	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
4	chr14:65745595..65748280-chr14:65878483..65880878,2	MCF-7	breast:
5	chr14:65569137..65571197-chr14:65878383..65880649,2	MCF-7	breast:
6	chr14:65688460..65689522-chr14:65878564..65879464,3	MCF-7	breast:
7	chr14:65878879..65879745-chr16:87350756..87351618,2	Hela-S3	cervix:
8	chr14:65799114..65802639-chr14:65877920..65880470,4	MCF-7	breast:
9	chr14:65877301..65879579-chr20:36761978..36764479,2	MCF-7	breast:
10	chr14:65877799..65879344-chr20:52823519..52825312,2	MCF-7	breast:
11	chr14:65769045..65770910-chr14:65878599..65880667,2	MCF-7	breast:
12	chr14:65688822..65689388-chr14:65878671..65879347,2	MCF-7	breast:
13	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-11	chr14:65877311-65879335	NONHSAT037389

Variant related genes	Relation type
FUT8	TF binding region
ENSG00000101132	Chromatin interaction
ENSG00000260456	Chromatin interaction
ENSG00000259078	Chromatin interaction
ENSG00000125952	Chromatin interaction
ENSG00000266740	Chromatin interaction
ENSG00000198959	Chromatin interaction
ENSG00000258760	Chromatin interaction
ENSG00000255002	Chromatin interaction
ENSG00000258878	Chromatin interaction
ENSG00000270006	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv510639	chr14:65853883-65884315	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv3404983	chr14:65878424-65881572	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr14:65877600-65882200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:65877600-65885400	Active TSS	GM12878-XiMat	blood
3	chr14:65877800-65880400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:65877800-65880600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:65877800-65880600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:65877800-65881000	Active TSS	Fetal Intestine Small	intestine
7	chr14:65877800-65881600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:65877800-65882600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:65878000-65879200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:65878000-65879800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:65878000-65879800	Active TSS	Colonic Mucosa	Colon
12	chr14:65878000-65880200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:65878000-65880200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:65878000-65880200	Active TSS	Stomach Smooth Muscle	stomach
15	chr14:65878000-65880400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:65878000-65880400	Active TSS	Fetal Lung	lung
17	chr14:65878000-65880400	Active TSS	Fetal Stomach	stomach
18	chr14:65878000-65880400	Active TSS	Rectal Smooth Muscle	rectum
19	chr14:65878000-65880400	Active TSS	Thymus	Thymus
20	chr14:65878000-65880400	Active TSS	HSMM	muscle
21	chr14:65878000-65880600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:65878000-65880600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:65878000-65880600	Active TSS	Fetal Brain Male	brain
24	chr14:65878000-65880600	Active TSS	Fetal Brain Female	brain
25	chr14:65878000-65880600	Active TSS	Small Intestine	intestine
26	chr14:65878000-65880600	Active TSS	NHLF	lung
27	chr14:65878000-65880800	Active TSS	Placenta	Placenta
28	chr14:65878000-65880800	Active TSS	Right Atrium	heart
29	chr14:65878000-65881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:65878000-65881000	Active TSS	Fetal Kidney	kidney
31	chr14:65878000-65881000	Active TSS	HSMMtube	muscle
32	chr14:65878000-65881200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:65878000-65881400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr14:65878000-65881800	Active TSS	Brain Angular Gyrus	brain
35	chr14:65878000-65881800	Active TSS	Fetal Intestine Large	intestine
36	chr14:65878000-65882400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:65878200-65880200	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr14:65878200-65880200	Active TSS	Primary T cells from cord blood	blood
39	chr14:65878200-65880200	Active TSS	Primary T cells fromperipheralblood	blood
40	chr14:65878200-65880200	Active TSS	Fetal Muscle Leg	muscle
41	chr14:65878200-65880200	Active TSS	Fetal Thymus	thymus
42	chr14:65878200-65880200	Active TSS	Left Ventricle	heart
43	chr14:65878200-65880200	Active TSS	Pancreas	Pancrea
44	chr14:65878200-65880200	Active TSS	Right Ventricle	heart
45	chr14:65878200-65880400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:65878200-65880400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr14:65878200-65880400	Active TSS	Aorta	Aorta
48	chr14:65878200-65880400	Active TSS	A549	lung
49	chr14:65878200-65880400	Active TSS	Hela-S3	cervix
50	chr14:65878200-65880600	Active TSS	K562	blood

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