Variant report

Variant	rs11621566
Chromosome Location	chr14:96969716-96969717
allele	A/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	MAX	chr14:96967801-96969777	A549	lung:	n/a	chr14:96968844-96968854 chr14:96968833-96968843 chr14:96968837-96968847
2	POLR2A	chr14:96967177-96969749	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr14:96969707-96969981	K562	blood:	n/a	n/a
4	CHD1	chr14:96968720-96970198	H1-hESC	embryonic stem cell:	n/a	chr14:96969749-96969756
5	UBTF	chr14:96967806-96969987	K562	blood:	n/a	n/a
6	MYC	chr14:96967611-96969793	K562	blood:	n/a	chr14:96968844-96968854 chr14:96968833-96968843 chr14:96968837-96968847
7	MYC	chr14:96967838-96969874	A549	lung:	n/a	chr14:96968844-96968854 chr14:96968833-96968843 chr14:96968837-96968847
8	NR2F2	chr14:96967770-96969808	MCF-7	breast:	n/a	chr14:96967919-96967934
9	POLR2A	chr14:96967336-96969734	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr14:96967893-96969747	MCF-7	breast:	n/a	n/a
11	SIN3A	chr14:96967819-96969934	H1-hESC	embryonic stem cell:	n/a	chr14:96969151-96969164
12	POLR2A	chr14:96966737-96970706	K562	blood:	n/a	n/a
13	POLR2A	chr14:96967457-96969747	K562	blood:	n/a	n/a
14	GABPA	chr14:96967738-96969720	MCF-7	breast:	n/a	chr14:96968672-96968686 chr14:96968675-96968684 chr14:96968675-96968686 chr14:96968675-96968689
15	REST	chr14:96967753-96969799	H1-neurons	neurons:	n/a	chr14:96969151-96969164 chr14:96968482-96968495
16	IRF1	chr14:96967813-96969954	K562	blood:	n/a	chr14:96969268-96969281 chr14:96969653-96969673 chr14:96969411-96969420 chr14:96969253-96969265 chr14:96968904-96968918
17	POLR2A	chr14:96967720-96969724	IMR90	lung:	n/a	n/a
18	MAX	chr14:96967868-96969722	MCF-7	breast:	n/a	chr14:96968844-96968854 chr14:96968833-96968843 chr14:96968837-96968847
19	POLR2A	chr14:96967330-96970494	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:96967236-96969978	GM12891	blood:	n/a	n/a
21	HCFC1	chr14:96967183-96970467	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr14:96967495-96970296	SK-N-SH	brain:	n/a	n/a
23	MAX	chr14:96967811-96969767	MCF-7	breast:	n/a	chr14:96968844-96968854 chr14:96968833-96968843 chr14:96968837-96968847
24	SIN3AK20	chr14:96967392-96969921	MCF-7	breast:	n/a	n/a
25	POLR2A	chr14:96967262-96970202	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr14:96967400-96969735	PBDE	blood:	n/a	n/a
27	ELF1	chr14:96968015-96969814	MCF-7	breast:	n/a	chr14:96968433-96968442 chr14:96968871-96968880 chr14:96968875-96968887 chr14:96968909-96968921
28	MXI1	chr14:96967673-96970227	IMR90	lung:	n/a	n/a
29	ZNF384	chr14:96969703-96969903	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:96759438..96761870-chr14:96967375..96970054,2	MCF-7	breast:
2	chr14:96856973..96858498-chr14:96967462..96970110,2	K562	blood:
3	chr14:96856767..96858498-chr14:96967514..96970110,2	K562	blood:
4	chr14:96789748..96793342-chr14:96967409..96970462,3	K562	blood:
5	chr14:96827813..96831839-chr14:96966913..96970397,8	MCF-7	breast:
6	chr14:96968318..96970026-chr14:96990174..96992851,2	K562	blood:
7	chr14:96828300..96831729-chr14:96966894..96970584,3	K562	blood:
8	chr14:96968705..96971658-chr14:97028687..97030507,2	MCF-7	breast:

Variant related genes	Relation type
PAPOLA	TF binding region
ENSG00000260806	TF binding region
ENSG00000066739	Chromatin interaction
ENSG00000238776	Chromatin interaction
ENSG00000090060	Chromatin interaction
ENSG00000100744	Chromatin interaction
ENSG00000140057	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10136266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10136277	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10139164	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10140247	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10143834	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144704	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145194	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs10467873	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11160341	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11160344	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621778	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11623142	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625090	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627288	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11848720	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848778	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12147439	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12147717	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs12586789	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs13329034	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13379390	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1484251	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.84[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17094149	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2274795	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28600893	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs28718054	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28738720	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2887550	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3809425	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs4514608	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56184178	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56960368	0.81[ASN][1000 genomes]
rs58112821	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60920648	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61435932	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61570427	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66881740	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142226	0.83[GIH][hapmap];0.83[JPT][hapmap]
rs7142806	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7146883	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160148	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013517	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs965950	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043142	chr14:96096263-96978016	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv542177	chr14:96096263-96978016	Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv482589	chr14:96805418-96985830	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv902211	chr14:96864309-96986153	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr14:96967200-96970000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:96967200-96970000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr14:96967200-96970200	Active TSS	GM12878-XiMat	blood
4	chr14:96967400-96970000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr14:96967400-96970000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:96967400-96970000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr14:96967400-96970200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:96967400-96970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:96967400-96970200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:96967400-96970200	Active TSS	A549	lung
11	chr14:96967400-96970400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:96967400-96970400	Active TSS	HSMMtube	muscle
13	chr14:96967400-96970600	Active TSS	Fetal Intestine Large	intestine
14	chr14:96967400-96970600	Active TSS	Fetal Intestine Small	intestine
15	chr14:96967400-96970600	Active TSS	Psoas Muscle	Psoas
16	chr14:96967400-96970600	Active TSS	Right Atrium	heart
17	chr14:96967400-96970800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr14:96967400-96971000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:96967400-96971000	Active TSS	Colonic Mucosa	Colon
20	chr14:96967600-96969800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:96967600-96969800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:96967600-96969800	Active TSS	Fetal Brain Female	brain
23	chr14:96967600-96969800	Active TSS	Pancreas	Pancrea
24	chr14:96967600-96969800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr14:96967600-96970000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:96967600-96970000	Active TSS	Fetal Muscle Trunk	muscle
27	chr14:96967600-96970000	Active TSS	Stomach Mucosa	stomach
28	chr14:96967600-96970200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr14:96967600-96970200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:96967600-96970200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:96967600-96970200	Active TSS	Aorta	Aorta
32	chr14:96967600-96970400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:96967600-96970400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:96967600-96970400	Active TSS	K562	blood
35	chr14:96967600-96970600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:96967600-96971600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:96967800-96969800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:96967800-96969800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:96967800-96969800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr14:96967800-96969800	Active TSS	Liver	Liver
41	chr14:96967800-96969800	Active TSS	Brain Cingulate Gyrus	brain
42	chr14:96967800-96969800	Active TSS	Esophagus	oesophagus
43	chr14:96967800-96969800	Active TSS	Fetal Brain Male	brain
44	chr14:96967800-96969800	Active TSS	Lung	lung
45	chr14:96967800-96969800	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr14:96967800-96969800	Active TSS	Small Intestine	intestine
47	chr14:96967800-96970000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:96967800-96970000	Active TSS	Left Ventricle	heart
49	chr14:96967800-96970000	Bivalent/Poised TSS	HepG2	liver
50	chr14:96967800-96970200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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