Variant report

Variant	rs8022600
Chromosome Location	chr14:81421423-81421424
allele	G/T
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	chr14:81421155-81421613	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr14:81420806-81421697	A549	lung:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
3	RAD21	chr14:81421093-81421506	A549	lung:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
4	MXI1	chr14:81420672-81421674	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr14:81421414-81421470	MCF-7	breast:	n/a	n/a
6	JUND	chr14:81421080-81421486	H1-hESC	embryonic stem cell:	n/a	chr14:81421164-81421171 chr14:81421164-81421172
7	CTCF	chr14:81421062-81421429	K562	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
8	MAZ	chr14:81421064-81421456	GM12878	blood:	n/a	n/a
9	MAX	chr14:81421179-81421668	H1-hESC	embryonic stem cell:	n/a	n/a
10	HMGN3	chr14:81421257-81421565	K562	blood:	n/a	n/a
11	CTCF	chr14:81421116-81421425	Lung_OC	lung:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
12	SMC3	chr14:81421054-81421441	HepG2	liver:	n/a	chr14:81421256-81421270
13	RAD21	chr14:81421071-81421517	GM12878	blood:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
14	MXI1	chr14:81421119-81421520	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr14:81421059-81421534	H1-hESC	embryonic stem cell:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
16	TCF12	chr14:81421188-81421609	ECC-1	luminal epithelium:	n/a	n/a
17	TCF12	chr14:81420992-81421562	A549	lung:	n/a	n/a
18	BACH1	chr14:81421226-81421524	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr14:81421102-81421488	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr14:81421090-81421432	Spleen_OC	spleen:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
21	MAFK	chr14:81421236-81421426	HepG2	liver:	n/a	n/a
22	CTCF	chr14:81421000-81421423	A549	lung:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
23	CTCF	chr14:81420797-81421728	SK-N-SH	brain:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
24	CTCF	chr14:81421044-81421536	K562	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
25	MYC	chr14:81421240-81421468	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:81421158-81421426	NHEK	skin:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
27	ARID3A	chr14:81421092-81421441	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:81421347-81421484	A549	lung:	n/a	n/a
29	MAX	chr14:81421075-81421643	HepG2	liver:	n/a	n/a
30	CTCF	chr14:81421169-81421459	MCF-7	breast:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
31	MAX	chr14:81421096-81421621	A549	lung:	n/a	n/a
32	CTCF	chr14:81421173-81421467	GM12891	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
33	CHD2	chr14:81421135-81421448	K562	blood:	n/a	n/a
34	MAZ	chr14:81421110-81421499	Hela-S3	cervix:	n/a	n/a
35	MYC	chr14:81421140-81421432	MCF10A-Er-Src	breast:	n/a	n/a
36	CTCF	chr14:81421008-81421528	GM12878	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
37	SIN3A	chr14:81421091-81421621	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:81421181-81421589	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr14:81421123-81421442	MCF-7	breast:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
40	CTCF	chr14:81421088-81421425	ECC-1	luminal epithelium:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
41	RAD21	chr14:81420968-81421597	A549	lung:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
42	REST	chr14:81421252-81421460	SK-N-SH	brain:	n/a	n/a
43	TEAD4	chr14:81421048-81421446	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAZ	chr14:81421221-81421437	HepG2	liver:	n/a	n/a
45	MAX	chr14:81421151-81421634	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr14:81421087-81421453	K562	blood:	n/a	n/a
47	MAX	chr14:81421061-81421543	SK-N-SH	brain:	n/a	n/a
48	TAF7	chr14:81421159-81421439	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr14:81421149-81421499	HepG2	liver:	n/a	n/a
50	TBP	chr14:81421116-81421522	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81421403-81421453	GM12878	blood:	n/a
2	chr14:81421403-81421453	ovcar-3	ovarian:	n/a
3	chr14:81421403-81421453	AG04449	skin:	fetal
4	chr14:81421403-81421453	MCF10A-Er-Src	breast:	n/a
5	chr14:81421403-81421453	GM12891	blood:	n/a
6	chr14:81421403-81421453	SAEC	small airway:	n/a
7	chr14:81421403-81421453	HMEC	breast:	n/a
8	chr14:81421403-81421453	HRPEpiC	eye:	n/a
9	chr14:81421403-81421453	SK-N-SH_RA	brain:	n/a
10	chr14:81421403-81421453	Hepatocyte	liver:	n/a
11	chr14:81421403-81421453	SK-N-MC	brain:	n/a
12	chr14:81421403-81421453	HNPCEpiC	eye:	n/a
13	chr14:81421403-81421453	GM19239	blood:	n/a
14	chr14:81421403-81421453	SK-N-SH	brain:	n/a
15	chr14:81421403-81421453	MCF-7	breast:	n/a
16	chr14:81421403-81421453	HRE	kidney:	n/a
17	chr14:81421403-81421453	BJ	skin:	n/a
18	chr14:81421403-81421453	NT2-D1	testis:	n/a
19	chr14:81421403-81421453	HEK293	kidney:	embryo
20	chr14:81421403-81421453	K562	blood:	n/a
21	chr14:81421403-81421453	AG10803	skin:	n/a
22	chr14:81421403-81421453	HepG2	liver:	n/a
23	chr14:81421403-81421453	RPTEC	kidney:	n/a
24	chr14:81421403-81421453	AG04450	lung:	fetal
25	chr14:81421403-81421453	NHBE	bronchial:	n/a
26	chr14:81421403-81421453	HIPEpiC	eye:	n/a
27	chr14:81421403-81421453	Caco-2	colon:	n/a
28	chr14:81421403-81421453	AG09319	gingival:	n/a
29	chr14:81421403-81421453	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:81421403-81421453	Hela-S3	cervix:	n/a
31	chr14:81421403-81421453	CMK	blood:	n/a
32	chr14:81421403-81421453	NB4	blood:	n/a
33	chr14:81421403-81421453	PANC-1	pancreas:	n/a
34	chr14:81421403-81421453	HAEpiC	amniotic membrane:	n/a
35	chr14:81421403-81421453	GM06990	blood:	n/a
36	chr14:81421403-81421453	GM12892	blood:	n/a
37	chr14:81421403-81421453	ProgFib	skin:	n/a
38	chr14:81421403-81421453	HRCEpiC	kidney:	n/a
39	chr14:81421403-81421453	Jurkat	blood:	n/a
40	chr14:81421403-81421453	A549	lung:	n/a
41	chr14:81421403-81421453	BE2_C	brain:	n/a
42	chr14:81421403-81421453	PFSK-1	brain:	n/a
43	chr14:81421403-81421453	HCM	heart:	n/a
44	chr14:81421403-81421453	HL-60	blood:	n/a
45	chr14:81421403-81421453	IMR90	lung:	fetal
46	chr14:81421403-81421453	HUVEC	blood vessel:	n/a
47	chr14:81421403-81421453	H1-hESC	embryonic stem cell:	embryo
48	chr14:81421403-81421453	PrEC	prostate:	n/a
49	chr14:81421403-81421453	HCPEpiC	choroid plexus:	n/a
50	chr14:81421403-81421453	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81421283..81423197-chr14:81423259..81426025,2	K562	blood:
2	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:
3	chr14:81421307..81423560-chr14:81685821..81687772,2	MCF-7	breast:

Variant related genes	Relation type
TSHR	TF binding region
TSHR	CpG island
ENSG00000100629	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10135774	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146348	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146516	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1016699	0.82[CEU][hapmap]
rs12050077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050078	0.88[CHB][hapmap]
rs12050278	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050350	0.88[CHB][hapmap]
rs12050416	0.81[CEU][hapmap]
rs12433134	0.82[CEU][hapmap]
rs12434318	0.85[CEU][hapmap]
rs17544072	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17615911	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17615941	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17626988	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179243	0.88[CHB][hapmap]
rs2110696	0.82[CHB][hapmap]
rs2114705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2195103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2217178	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2239610	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2268451	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2268452	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2284720	0.82[CHB][hapmap]
rs4899780	0.82[CEU][hapmap]
rs4899781	0.82[EUR][1000 genomes]
rs4903955	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5002906	0.81[CHB][hapmap]
rs55751898	0.92[ASN][1000 genomes]
rs6574611	0.82[EUR][1000 genomes]
rs7145224	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7154269	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726020	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs8009058	0.90[YRI][hapmap]
rs8012343	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81421000-81421600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:81421000-81421800	Active TSS	Fetal Kidney	kidney
3	chr14:81421000-81421800	Active TSS	K562	blood
4	chr14:81421000-81422000	Active TSS	NH-A	brain
5	chr14:81421000-81423400	Active TSS	Fetal Thymus	thymus
6	chr14:81421000-81426400	Active TSS	Thymus	Thymus
7	chr14:81421200-81421600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:81421200-81421600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
10	chr14:81421200-81421600	Active TSS	Primary T cells from cord blood	blood
11	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
12	chr14:81421200-81421600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:81421200-81421600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:81421200-81421600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:81421200-81421600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:81421200-81421600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:81421200-81421600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:81421200-81421600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr14:81421200-81421600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr14:81421200-81421600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:81421200-81421600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr14:81421200-81421600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr14:81421200-81421600	Active TSS	Lung	lung
26	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
27	chr14:81421200-81421600	Active TSS	Hela-S3	cervix
28	chr14:81421200-81421600	Flanking Active TSS	HMEC	breast
29	chr14:81421200-81421600	Active TSS	HSMMtube	muscle
30	chr14:81421200-81421600	Flanking Active TSS	HUVEC	blood vessel
31	chr14:81421200-81421600	Active TSS	NHLF	lung
32	chr14:81421200-81421600	Flanking Active TSS	Osteobl	bone
33	chr14:81421200-81421800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:81421200-81421800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:81421200-81421800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:81421200-81421800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr14:81421200-81421800	Active TSS	Primary hematopoietic stem cells	blood
38	chr14:81421200-81421800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr14:81421200-81421800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:81421200-81421800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:81421200-81421800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:81421200-81421800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:81421200-81421800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:81421200-81421800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:81421200-81421800	Active TSS	Brain Substantia Nigra	brain
46	chr14:81421200-81421800	Active TSS	Colonic Mucosa	Colon
47	chr14:81421200-81421800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:81421200-81421800	Active TSS	Fetal Brain Female	brain
49	chr14:81421200-81421800	Bivalent/Poised TSS	Left Ventricle	heart
50	chr14:81421200-81421800	Active TSS	Ovary	ovary

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