Variant report

Variant	rs12881815
Chromosome Location	chr14:64604595-64604596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:64604520-64604670	GM12878	blood:	n/a	n/a
2	RAD21	chr14:64604292-64605000	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:64604460-64604610	BJ	skin:	n/a	n/a
4	CTCF	chr14:64604520-64604670	HEK293	kidney:	n/a	n/a
5	CTCF	chr14:64604482-64604719	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:64604449-64604889	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:64604520-64604670	A549	lung:	n/a	n/a
8	CTCF	chr14:64604480-64604630	HRPEpiC	eye:	n/a	n/a
9	RAD21	chr14:64604469-64604655	GM12878	blood:	n/a	n/a
10	SMC3	chr14:64604558-64604597	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr14:64604540-64604690	GM12872	blood:	n/a	n/a
12	RAD21	chr14:64604468-64604701	GM12878	blood:	n/a	n/a
13	CTCF	chr14:64604407-64604714	A549	lung:	n/a	n/a
14	CTCF	chr14:64604500-64604650	GM12874	blood:	n/a	n/a
15	CTCF	chr14:64604500-64604650	GM12868	blood:	n/a	n/a
16	CTCF	chr14:64604540-64604690	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr14:64604463-64604689	K562	blood:	n/a	n/a
18	CTCF	chr14:64604480-64604630	BJ	skin:	n/a	n/a
19	CTCF	chr14:64604457-64604638	A549	lung:	n/a	n/a
20	CTCF	chr14:64604500-64604650	AG04449	skin:	n/a	n/a
21	CTCF	chr14:64604499-64604639	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr14:64604520-64604670	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr14:64604474-64604651	A549	lung:	n/a	n/a
24	CTCF	chr14:64604520-64604670	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr14:64604520-64604670	HCFaa	heart:	n/a	n/a
26	CTCF	chr14:64604490-64604665	GM19240	blood:	n/a	n/a
27	RAD21	chr14:64604451-64604811	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr14:64604476-64604651	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr14:64604520-64604670	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr14:64604413-64604726	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:64604486-64604677	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:64604460-64604610	GM12875	blood:	n/a	n/a
33	CTCF	chr14:64604460-64604610	NHLF	lung:	n/a	n/a
34	CTCF	chr14:64604435-64604708	K562	blood:	n/a	n/a
35	CTCF	chr14:64604500-64604650	GM12865	blood:	n/a	n/a
36	CTCF	chr14:64604463-64604674	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr14:64604373-64604773	A549	lung:	n/a	n/a
38	CTCF	chr14:64604411-64604706	HepG2	liver:	n/a	n/a
39	SMC3	chr14:64604256-64604939	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr14:64604450-64604694	LNCaP	prostate:	n/a	n/a
41	RAD21	chr14:64604305-64604912	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr14:64604580-64604730	A549	lung:	n/a	n/a
43	RAD21	chr14:64604376-64604846	HCT-116	colon:	n/a	n/a
44	CTCF	chr14:64604480-64604630	AG09309	skin:	n/a	n/a
45	CTCF	chr14:64604501-64604636	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr14:64604363-64604698	HepG2	liver:	n/a	n/a
47	CTCF	chr14:64604500-64604636	GM10248	blood:	n/a	n/a
48	CTCF	chr14:64604283-64604894	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:64604504-64604684	ProgFib	skin:	n/a	n/a
50	CTCF	chr14:64604477-64604682	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:64604081..64605250-chr14:64769694..64771281,8	MCF-7	breast:
2	chr14:64604106..64605326-chr14:64769895..64770529,5	MCF-7	breast:
3	chr14:64604050..64605326-chr14:64761261..64762254,11	MCF-7	breast:
4	chr14:64604526..64605452-chr14:64761263..64761766,2	K562	blood:
5	chr14:64603180..64606087-chr14:64758576..64761185,2	MCF-7	breast:

No data

Variant related genes	Relation type
SYNE2	TF binding region
ENSG00000140009	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17751301	0.85[CEU][hapmap]
rs17824268	0.85[CEU][hapmap]
rs33976862	0.85[CEU][hapmap]
rs35852840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015210	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564906	chr14:64595673-64612858	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr14:64583600-64605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:64583600-64611800	Strong transcription	Dnd41	blood
13	chr14:64583600-64638000	Strong transcription	Placenta	Placenta
14	chr14:64584400-64616000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:64584600-64607000	Weak transcription	HUVEC	blood vessel
16	chr14:64584600-64623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:64584800-64605400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr14:64585400-64613400	Weak transcription	HSMM	muscle
19	chr14:64585600-64607400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:64585600-64615600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr14:64585800-64614400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:64586000-64649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:64586400-64631800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:64586600-64614000	Weak transcription	Fetal Heart	heart
25	chr14:64588800-64611600	Strong transcription	Primary T cells from cord blood	blood
26	chr14:64590200-64634000	Weak transcription	HepG2	liver
27	chr14:64590400-64608800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:64591000-64649000	Strong transcription	Liver	Liver
29	chr14:64592600-64608200	Weak transcription	Hela-S3	cervix
30	chr14:64592800-64608600	Weak transcription	Fetal Brain Male	brain
31	chr14:64593600-64608600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:64593600-64609000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:64593600-64615800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:64593800-64608600	Weak transcription	Small Intestine	intestine
35	chr14:64593800-64608800	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:64593800-64613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:64594200-64605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:64594600-64609200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:64594600-64653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:64594800-64619600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:64595200-64605000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:64595600-64607400	Strong transcription	Fetal Stomach	stomach
43	chr14:64596400-64653000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:64597000-64608400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr14:64597000-64608800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:64597000-64609000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:64597000-64609200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:64597000-64626400	Weak transcription	Psoas Muscle	Psoas
49	chr14:64597200-64608200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:64597400-64606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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