Variant report

Variant	rs3742737
Chromosome Location	chr14:77843384-77843385
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:309)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:77843015-77844144	IMR90	lung:	n/a	n/a
2	SIN3AK20	chr14:77843082-77843934	PANC-1	pancreas:	n/a	n/a
3	E2F6	chr14:77843153-77843496	K562	blood:	n/a	n/a
4	TCF12	chr14:77843074-77843738	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr14:77843050-77843865	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:77842896-77843780	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr14:77843300-77843450	GM12870	blood:	n/a	n/a
8	TAF1	chr14:77843157-77843881	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr14:77843229-77843610	SK-N-MC	brain:	n/a	n/a
10	TAF1	chr14:77843023-77843739	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr14:77842832-77843985	GM12878	blood:	n/a	n/a
12	HCFC1	chr14:77842896-77844244	Hela-S3	cervix:	n/a	n/a
13	YY1	chr14:77843136-77844007	K562	blood:	n/a	chr14:77843155-77843166 chr14:77843402-77843416
14	CTCF	chr14:77843360-77843510	HEEpiC	esophagus:	n/a	n/a
15	RCOR1	chr14:77841584-77843646	GM12878	blood:	n/a	n/a
16	CTCF	chr14:77843320-77843470	HVMF	connective:	n/a	n/a
17	TAF1	chr14:77843256-77843504	GM12892	blood:	n/a	n/a
18	RAD21	chr14:77843175-77843607	HepG2	liver:	n/a	chr14:77843477-77843490
19	MAZ	chr14:77843102-77843658	Hela-S3	cervix:	n/a	n/a
20	ELF1	chr14:77843280-77843885	K562	blood:	n/a	n/a
21	MAX	chr14:77843332-77843531	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:77843058-77843874	U87	brain:	n/a	n/a
23	CTCF	chr14:77843380-77843530	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr14:77843380-77843530	HCPEpiC	choroid plexus:	n/a	n/a
25	SIN3AK20	chr14:77843251-77843884	K562	blood:	n/a	n/a
26	GABPA	chr14:77843267-77843887	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr14:77843117-77843646	A549	lung:	n/a	n/a
28	GABPA	chr14:77843293-77843933	K562	blood:	n/a	n/a
29	POLR2A	chr14:77842675-77843712	GM18526	blood:	n/a	n/a
30	POLR2A	chr14:77843174-77843871	Gliobla	brain:	n/a	n/a
31	GABPA	chr14:77843380-77843839	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:77843180-77843674	PFSK-1	brain:	n/a	n/a
33	ZBTB7A	chr14:77843052-77843504	K562	blood:	n/a	n/a
34	POLR2A	chr14:77843025-77843850	Hela-S3	cervix:	n/a	n/a
35	ELF1	chr14:77843277-77843913	HepG2	liver:	n/a	n/a
36	GABPA	chr14:77843211-77844111	SK-N-SH	brain:	n/a	n/a
37	TAF1	chr14:77843102-77843846	ECC-1	luminal epithelium:	n/a	n/a
38	YY1	chr14:77843251-77844122	SK-N-SH	brain:	n/a	chr14:77843402-77843416
39	ELF1	chr14:77842641-77843987	GM12878	blood:	n/a	chr14:77843232-77843244
40	GTF2F1	chr14:77843316-77843459	H1-hESC	embryonic stem cell:	n/a	n/a
41	ELK1	chr14:77843325-77843891	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr14:77843183-77843695	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:77843079-77843755	PANC-1	pancreas:	n/a	n/a
44	CTCF	chr14:77843380-77843530	RPTEC	kidney:	n/a	n/a
45	TAF1	chr14:77843107-77843606	GM12878	blood:	n/a	n/a
46	NR2F2	chr14:77843355-77843914	K562	blood:	n/a	n/a
47	JUND	chr14:77843267-77843437	H1-hESC	embryonic stem cell:	n/a	n/a
48	FOXA2	chr14:77843247-77843825	A549	lung:	n/a	n/a
49	POLR2A	chr14:77841886-77843811	GM12892	blood:	n/a	n/a
50	CHD2	chr14:77843259-77843568	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77841708..77843435-chr14:77931241..77933009,2	K562	blood:
2	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:
3	chr14:77790811..77792920-chr14:77841645..77843708,2	MCF-7	breast:
4	chr14:77841182..77844130-chr14:78173275..78175250,2	MCF-7	breast:
5	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
6	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
7	chr14:77814415..77818794-chr14:77841444..77844447,3	MCF-7	breast:
8	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
9	chr14:77841845..77843819-chr14:77922794..77925151,2	MCF-7	breast:
10	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:

No data

Variant related genes	Relation type
SAMD15	TF binding region
ENSG00000119705	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000266628	Chromatin interaction
ENSG00000212371	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10141317	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10143629	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10149037	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs11159261	1.00[JPT][hapmap]
rs11539461	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11624314	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs11844300	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11844594	0.88[CHD][hapmap]
rs12433120	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12433521	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12434419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12435136	1.00[JPT][hapmap]
rs13379432	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17105749	0.96[EUR][1000 genomes]
rs17751406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17751412	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17824034	1.00[JPT][hapmap]
rs17824214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17824322	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063997	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2193595	0.89[CHD][hapmap]
rs28590531	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3783985	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs4899652	1.00[JPT][hapmap]
rs4903576	0.89[CHD][hapmap]
rs4903578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4903579	1.00[JPT][hapmap]
rs4903580	1.00[JPT][hapmap]
rs4903581	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs59010468	0.82[EUR][1000 genomes]
rs6574374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7155063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7156032	1.00[CHB][hapmap]
rs7156671	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8007503	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8010520	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8012548	0.94[EUR][1000 genomes]
rs8017215	0.82[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap]
rs8020537	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr14:77840600-77844200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:77841600-77843800	Active TSS	GM12878-XiMat	blood
3	chr14:77842000-77843800	Active TSS	Osteobl	bone
4	chr14:77842200-77843800	Active TSS	Fetal Brain Female	brain
5	chr14:77842200-77843800	Active TSS	A549	lung
6	chr14:77842200-77844000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:77842200-77844000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:77842200-77844200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:77842200-77844200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:77842200-77844200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr14:77842200-77844200	Active TSS	Right Atrium	heart
12	chr14:77842400-77843800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:77842400-77843800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:77842400-77843800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:77842400-77843800	Active TSS	HSMMtube	muscle
16	chr14:77842400-77843800	Active TSS	NHLF	lung
17	chr14:77842400-77844000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:77842400-77844000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:77842400-77844000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:77842400-77844000	Active TSS	Fetal Brain Male	brain
21	chr14:77842400-77844000	Active TSS	Fetal Intestine Large	intestine
22	chr14:77842400-77844000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr14:77842400-77844000	Active TSS	Ovary	ovary
24	chr14:77842600-77843600	Bivalent/Poised TSS	HepG2	liver
25	chr14:77842600-77843800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:77842600-77843800	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr14:77842600-77843800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:77842600-77843800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:77842600-77843800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:77842600-77843800	Active TSS	Lung	lung
31	chr14:77842600-77843800	Active TSS	HSMM	muscle
32	chr14:77842600-77843800	Active TSS	K562	blood
33	chr14:77842600-77843800	Active TSS	NH-A	brain
34	chr14:77842600-77843800	Active TSS	NHDF-Ad	bronchial
35	chr14:77842600-77844000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr14:77842600-77844000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:77842600-77844000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:77842600-77844000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:77842600-77844200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr14:77842600-77844200	Active TSS	Fetal Kidney	kidney
41	chr14:77842600-77844400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:77842600-77844400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:77842800-77843600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:77842800-77843800	Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:77842800-77843800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:77842800-77843800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:77842800-77843800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:77842800-77843800	Active TSS	Primary B cells from peripheral blood	blood
49	chr14:77842800-77843800	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:77842800-77843800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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