Variant report

Variant	rs3762162
Chromosome Location	chr14:21944174-21944175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21944170-21944194	HepG2	liver:	n/a	n/a
2	STAT3	chr14:21943930-21945603	MCF10A-Er-Src	breast:	n/a	chr14:21945183-21945203 chr14:21945124-21945136 chr14:21945138-21945150
3	MXI1	chr14:21943930-21946175	SK-N-SH	brain:	n/a	n/a
4	FOXA1	chr14:21943802-21944954	HepG2	liver:	n/a	n/a
5	MYC	chr14:21944109-21944805	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:21944055-21945641	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:21944045-21945629	MCF10A-Er-Src	breast:	n/a	n/a
8	HCFC1	chr14:21944168-21946033	Hela-S3	cervix:	n/a	n/a
9	MYBL2	chr14:21944074-21945890	HepG2	liver:	n/a	n/a
10	CREB1	chr14:21943992-21945912	HepG2	liver:	n/a	n/a
11	MYC	chr14:21944114-21944202	K562	blood:	n/a	n/a
12	RCOR1	chr14:21944064-21944252	GM12878	blood:	n/a	n/a
13	ARID3A	chr14:21944173-21945505	HepG2	liver:	n/a	n/a
14	FOXA2	chr14:21943937-21944226	HepG2	liver:	n/a	n/a
15	FOXA1	chr14:21943941-21944268	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21923260..21925455-chr14:21943748..21947334,4	K562	blood:
2	chr14:21943182..21946742-chr14:21976824..21981257,10	MCF-7	breast:
3	chr14:21903784..21905572-chr14:21943555..21945925,2	MCF-7	breast:
4	chr14:21922721..21925394-chr14:21943917..21947287,10	MCF-7	breast:
5	chr1:149858313..149859863-chr14:21943720..21946355,2	MCF-7	breast:
6	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
7	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
8	chr14:21943699..21946735-chr14:21977733..21982256,4	MCF-7	breast:
9	chr14:21941797..21947093-chr14:21954513..21961521,11	MCF-7	breast:

No data

Variant related genes	Relation type
TOX4	TF binding region
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10132333	0.81[MEX][hapmap]
rs10134108	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs10137743	0.83[GIH][hapmap]
rs10141933	0.83[ASN][1000 genomes]
rs10142478	0.83[ASN][1000 genomes]
rs10143000	0.94[GIH][hapmap];0.88[MEX][hapmap]
rs10143061	0.82[MEX][hapmap]
rs10146717	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs10151764	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs1045842	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap]
rs11156996	0.83[ASN][1000 genomes]
rs11624716	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs1263788	0.83[ASN][1000 genomes]
rs1263790	1.00[CHD][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.83[ASN][1000 genomes]
rs1263792	0.95[CHD][hapmap];0.94[MEX][hapmap];0.81[ASN][1000 genomes]
rs1263797	0.83[ASN][1000 genomes]
rs1263798	0.83[ASN][1000 genomes]
rs1543494	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs1794219	0.83[ASN][1000 genomes]
rs1952554	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs1998332	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs1999139	0.89[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap]
rs3762158	0.82[MEX][hapmap]
rs3762159	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs3762160	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571797	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs6571843	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs6571844	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6571845	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571846	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7147024	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs7151259	0.83[ASN][1000 genomes]
rs7152833	0.82[MEX][hapmap]
rs7157563	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157961	0.83[ASN][1000 genomes]
rs7159433	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7160488	0.82[MEX][hapmap]
rs8004388	0.82[MEX][hapmap]
rs8005163	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008670	0.82[MEX][hapmap]
rs8009789	0.82[MEX][hapmap]
rs8013109	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022395	0.82[MEX][hapmap]
rs9322978	0.83[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]

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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer 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	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:21925000-21944600	Weak transcription	Small Intestine	intestine
4	chr14:21930200-21944400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21932000-21944400	Weak transcription	Psoas Muscle	Psoas
6	chr14:21933200-21944600	Weak transcription	Spleen	Spleen
7	chr14:21934600-21944600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:21935600-21944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:21935800-21944400	Weak transcription	HSMMtube	muscle
10	chr14:21937000-21944400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:21937200-21944400	Weak transcription	Aorta	Aorta
12	chr14:21941400-21944400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:21941400-21944600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:21942000-21944400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:21942600-21944200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:21943000-21944200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:21943200-21944400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:21943400-21944200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:21943400-21944400	Weak transcription	HSMM	muscle
20	chr14:21943600-21944200	Enhancers	Primary B cells from cord blood	blood
21	chr14:21943600-21944200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:21943600-21944200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:21943600-21944200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:21943600-21944200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:21943600-21944400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:21943600-21944400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:21943600-21944400	Enhancers	Gastric	stomach
28	chr14:21943800-21944200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr14:21943800-21944200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr14:21943800-21944200	Enhancers	Primary T cells from cord blood	blood
31	chr14:21943800-21944200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:21943800-21944200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr14:21943800-21944200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:21943800-21944200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:21943800-21944200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr14:21943800-21944200	Enhancers	Fetal Brain Female	brain
37	chr14:21943800-21944200	Enhancers	Fetal Heart	heart
38	chr14:21943800-21944200	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr14:21943800-21944200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr14:21943800-21944200	Enhancers	Thymus	Thymus
41	chr14:21943800-21944200	Flanking Active TSS	A549	lung
42	chr14:21943800-21944200	Flanking Active TSS	HMEC	breast
43	chr14:21943800-21944200	Flanking Active TSS	NHLF	lung
44	chr14:21943800-21944400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:21943800-21944400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:21943800-21944400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr14:21943800-21944400	Enhancers	Primary B cells from peripheral blood	blood
48	chr14:21943800-21944400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:21943800-21944400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:21943800-21944400	Enhancers	Brain Substantia Nigra	brain

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