Variant report

Variant	rs565636310
Chromosome Location	chr14:37049588-37049589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr14:37048727-37050904	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr14:37048866-37049664	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr14:37048394-37054757	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr14:37049357-37049716	H1-hESC	embryonic stem cell:	n/a	chr14:37049483-37049493 chr14:37049483-37049493

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37049565-37049615	PFSK-1	brain:	n/a
2	chr14:37049565-37049615	PrEC	prostate:	n/a
3	chr14:37049565-37049615	T-47D	breast:	n/a
4	chr14:37049565-37049615	HRPEpiC	eye:	n/a
5	chr14:37049565-37049615	GM12878	blood:	n/a
6	chr14:37049565-37049615	HAEpiC	amniotic membrane:	n/a
7	chr14:37049565-37049615	Caco-2	colon:	n/a
8	chr14:37049565-37049615	SK-N-SH	brain:	n/a
9	chr14:37049565-37049615	ProgFib	skin:	n/a
10	chr14:37049565-37049615	GM12891	blood:	n/a
11	chr14:37049565-37049615	HRE	kidney:	n/a
12	chr14:37049565-37049615	NH-A	brain:	n/a
13	chr14:37049565-37049615	AG04449	skin:	fetal
14	chr14:37049565-37049615	HRCEpiC	kidney:	n/a
15	chr14:37049565-37049615	Hepatocyte	liver:	n/a
16	chr14:37049565-37049615	HNPCEpiC	eye:	n/a
17	chr14:37049565-37049615	NT2-D1	testis:	n/a
18	chr14:37049565-37049615	MCF10A-Er-Src	breast:	n/a
19	chr14:37049565-37049615	HL-60	blood:	n/a
20	chr14:37049565-37049615	HIPEpiC	eye:	n/a
21	chr14:37049565-37049615	HEK293	kidney:	embryo
22	chr14:37049565-37049615	HepG2	liver:	n/a
23	chr14:37049565-37049615	Jurkat	blood:	n/a
24	chr14:37049565-37049615	K562	blood:	n/a
25	chr14:37049565-37049615	HMEC	breast:	n/a
26	chr14:37049565-37049615	PANC-1	pancreas:	n/a
27	chr14:37049565-37049615	BE2_C	brain:	n/a
28	chr14:37049565-37049615	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:37049565-37049615	HCF	heart:	n/a
30	chr14:37049565-37049615	IMR90	lung:	fetal
31	chr14:37049565-37049615	GM06990	blood:	n/a
32	chr14:37049565-37049615	AG04450	lung:	fetal
33	chr14:37049565-37049615	HUVEC	blood vessel:	n/a
34	chr14:37049565-37049615	MCF-7	breast:	n/a
35	chr14:37049565-37049615	U87	brain:	n/a
36	chr14:37049565-37049615	HCPEpiC	choroid plexus:	n/a
37	chr14:37049565-37049615	BJ	skin:	n/a
38	chr14:37049565-37049615	CMK	blood:	n/a
39	chr14:37049565-37049615	SKMC	muscle:	n/a
40	chr14:37049565-37049615	Hela-S3	cervix:	n/a
41	chr14:37049565-37049615	GM12892	blood:	n/a
42	chr14:37049565-37049615	RPTEC	kidney:	n/a
43	chr14:37049565-37049615	AG10803	skin:	n/a
44	chr14:37049565-37049615	NB4	blood:	n/a
45	chr14:37049565-37049615	ECC-1	luminal epithelium:	n/a
46	chr14:37049565-37049615	NHBE	bronchial:	n/a
47	chr14:37049565-37049615	SAEC	small airway:	n/a
48	chr14:37049565-37049615	SK-N-SH_RA	brain:	n/a
49	chr14:37049565-37049615	LNCaP	prostate:	n/a
50	chr14:37049565-37049615	AG09309	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37047412..37050390-chr14:37058985..37061085,2	MCF-7	breast:
2	chr14:37043777..37046012-chr14:37049120..37051344,2	MCF-7	breast:
3	chr14:37043733..37045700-chr14:37047521..37049850,2	K562	blood:
4	chr14:37049506..37051705-chr14:37066092..37068033,2	MCF-7	breast:
5	chr14:37043733..37046735-chr14:37047521..37050393,3	K562	blood:

No data

Variant related genes	Relation type
RPL29P3	TF binding region
RPL29P3	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv32575	chr14:37047629-37052658	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3358545	chr14:37049026-37051574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37048000-37054800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37048400-37050000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:37048400-37050200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:37048800-37049600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:37048800-37050200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:37048800-37050600	ZNF genes & repeats	Spleen	Spleen
7	chr14:37048800-37051800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:37049000-37052400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr14:37049200-37049800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:37049200-37050000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr14:37049200-37050400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:37049200-37051800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:37049400-37049600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:37049400-37049600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr14:37049400-37049600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:37049400-37049600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
17	chr14:37049400-37049600	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
18	chr14:37049400-37049800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr14:37049400-37049800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr14:37049400-37049800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:37049400-37050000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr14:37049400-37050200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:37049400-37050400	Bivalent Enhancer	Left Ventricle	heart
24	chr14:37049400-37050800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:37049400-37051000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:37049400-37051000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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