Variant report

Variant	rs8022139
Chromosome Location	chr14:81421345-81421346
allele	C/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	JUND	chr14:81421080-81421486	H1-hESC	embryonic stem cell:	n/a	chr14:81421164-81421171 chr14:81421164-81421172
6	CTCF	chr14:81421062-81421429	K562	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
7	CTCF	chr14:81421200-81421350	Hela-S3	cervix:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
8	MAZ	chr14:81421064-81421456	GM12878	blood:	n/a	n/a
9	CTCF	chr14:81421200-81421350	GM12865	blood:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
10	MAX	chr14:81421179-81421668	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr14:81421046-81421387	GM12878	blood:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
12	HMGN3	chr14:81421257-81421565	K562	blood:	n/a	n/a
13	CTCF	chr14:81421200-81421350	HCFaa	heart:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
14	CTCF	chr14:81421116-81421425	Lung_OC	lung:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
15	SMC3	chr14:81421054-81421441	HepG2	liver:	n/a	chr14:81421256-81421270
16	RAD21	chr14:81421071-81421517	GM12878	blood:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
17	CTCF	chr14:81421200-81421350	HPAF	blood vessel:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
18	MXI1	chr14:81421119-81421520	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr14:81421059-81421534	H1-hESC	embryonic stem cell:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
20	TCF12	chr14:81421188-81421609	ECC-1	luminal epithelium:	n/a	n/a
21	TCF12	chr14:81420992-81421562	A549	lung:	n/a	n/a
22	CTCF	chr14:81421220-81421370	WERI-Rb-1	eye:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
23	CTCF	chr14:81421200-81421350	HMEC	breast:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
24	BACH1	chr14:81421226-81421524	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr14:81421102-81421488	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:81421200-81421350	HA-sp	spinal cord:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
27	RAD21	chr14:81421123-81421417	K562	blood:	n/a	chr14:81421255-81421274 chr14:81421256-81421270
28	CTCF	chr14:81421090-81421432	Spleen_OC	spleen:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
29	CTCF	chr14:81421260-81421410	K562	blood:	n/a	chr14:81421383-81421392
30	MAFK	chr14:81421236-81421426	HepG2	liver:	n/a	n/a
31	FOS	chr14:81421001-81421367	MCF10A-Er-Src	breast:	n/a	chr14:81421164-81421171 chr14:81421164-81421172
32	CTCF	chr14:81421087-81421422	SK-N-SH_RA	brain:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
33	YY1	chr14:81421147-81421354	GM12892	blood:	n/a	n/a
34	CTCF	chr14:81421220-81421370	HEEpiC	esophagus:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
35	CTCF	chr14:81421000-81421423	A549	lung:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
36	CTCF	chr14:81421260-81421410	A549	lung:	n/a	chr14:81421383-81421392
37	CTCF	chr14:81420797-81421728	SK-N-SH	brain:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
38	CTCF	chr14:81421044-81421536	K562	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
39	TBL1XR1	chr14:81421270-81421364	K562	blood:	n/a	n/a
40	MYC	chr14:81421240-81421468	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:81421158-81421426	NHEK	skin:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
42	CTCF	chr14:81421200-81421350	GM06990	blood:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
43	MYC	chr14:81421219-81421415	HUVEC	blood vessel:	n/a	n/a
44	ARID3A	chr14:81421092-81421441	HepG2	liver:	n/a	n/a
45	MAX	chr14:81421075-81421643	HepG2	liver:	n/a	n/a
46	CTCF	chr14:81421169-81421459	MCF-7	breast:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
47	CTCF	chr14:81421200-81421350	HL-60	blood:	n/a	chr14:81421254-81421272 chr14:81421257-81421270
48	CTCF	chr14:81421122-81421394	K562	blood:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
49	CTCF	chr14:81421136-81421417	LNCaP	prostate:	n/a	chr14:81421383-81421392 chr14:81421254-81421272 chr14:81421257-81421270
50	ZNF384	chr14:81421165-81421355	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81421322-81421372	HRCEpiC	kidney:	n/a
2	chr14:81421297-81421347	SK-N-SH_RA	brain:	n/a
3	chr14:81421322-81421372	H1-hESC	embryonic stem cell:	embryo
4	chr14:81421322-81421372	IMR90	lung:	fetal
5	chr14:81421322-81421372	NHBE	bronchial:	n/a
6	chr14:81421322-81421372	ECC-1	luminal epithelium:	n/a
7	chr14:81421297-81421347	GM06990	blood:	n/a
8	chr14:81421322-81421372	Hela-S3	cervix:	n/a
9	chr14:81421322-81421372	HIPEpiC	eye:	n/a
10	chr14:81421322-81421372	AG04450	lung:	fetal
11	chr14:81421297-81421347	K562	blood:	n/a
12	chr14:81421297-81421347	AG04449	skin:	fetal
13	chr14:81421297-81421347	AG09309	skin:	n/a
14	chr14:81421322-81421372	RPTEC	kidney:	n/a
15	chr14:81421322-81421372	AG09319	gingival:	n/a
16	chr14:81421297-81421347	H1-hESC	embryonic stem cell:	embryo
17	chr14:81421322-81421372	HepG2	liver:	n/a
18	chr14:81421297-81421347	MCF10A-Er-Src	breast:	n/a
19	chr14:81421297-81421347	ovcar-3	ovarian:	n/a
20	chr14:81421322-81421372	PANC-1	pancreas:	n/a
21	chr14:81421297-81421347	NHDF-neo	bronchial:	n/a
22	chr14:81421297-81421347	HCT-116	colon:	n/a
23	chr14:81421297-81421347	NB4	blood:	n/a
24	chr14:81421322-81421372	AG09309	skin:	n/a
25	chr14:81421297-81421347	HRCEpiC	kidney:	n/a
26	chr14:81421322-81421372	HEEpiC	esophagus:	n/a
27	chr14:81421322-81421372	T-47D	breast:	n/a
28	chr14:81421297-81421347	SK-N-SH	brain:	n/a
29	chr14:81421322-81421372	CMK	blood:	n/a
30	chr14:81421297-81421347	HRPEpiC	eye:	n/a
31	chr14:81421322-81421372	HAEpiC	amniotic membrane:	n/a
32	chr14:81421297-81421347	AG04450	lung:	fetal
33	chr14:81421322-81421372	LNCaP	prostate:	n/a
34	chr14:81421297-81421347	HEEpiC	esophagus:	n/a
35	chr14:81421322-81421372	Jurkat	blood:	n/a
36	chr14:81421322-81421372	Hepatocyte	liver:	n/a
37	chr14:81421322-81421372	GM12878	blood:	n/a
38	chr14:81421297-81421347	T-47D	breast:	n/a
39	chr14:81421322-81421372	HNPCEpiC	eye:	n/a
40	chr14:81421297-81421347	RPTEC	kidney:	n/a
41	chr14:81421322-81421372	NHDF-neo	bronchial:	n/a
42	chr14:81421322-81421372	NH-A	brain:	n/a
43	chr14:81421297-81421347	HNPCEpiC	eye:	n/a
44	chr14:81421297-81421347	LNCaP	prostate:	n/a
45	chr14:81421297-81421347	GM19239	blood:	n/a
46	chr14:81421297-81421347	HRE	kidney:	n/a
47	chr14:81421297-81421347	U87	brain:	n/a
48	chr14:81421322-81421372	NB4	blood:	n/a
49	chr14:81421297-81421347	PrEC	prostate:	n/a
50	chr14:81421297-81421347	NH-A	brain:	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2234919	0.83[ASN][1000 genomes]
rs28699303	0.84[AFR][1000 genomes]
rs45585237	0.83[ASN][1000 genomes]
rs6574615	0.82[GIH][hapmap];0.84[MEX][hapmap]
rs726019	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs8009058	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81415600-81421400	Weak transcription	Placenta	Placenta
2	chr14:81421000-81421400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:81421000-81421400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81421000-81421400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr14:81421000-81421600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:81421000-81421800	Active TSS	Fetal Kidney	kidney
7	chr14:81421000-81421800	Active TSS	K562	blood
8	chr14:81421000-81422000	Active TSS	NH-A	brain
9	chr14:81421000-81423400	Active TSS	Fetal Thymus	thymus
10	chr14:81421000-81426400	Active TSS	Thymus	Thymus
11	chr14:81421200-81421400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:81421200-81421400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr14:81421200-81421400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:81421200-81421400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:81421200-81421400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:81421200-81421400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:81421200-81421400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:81421200-81421400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:81421200-81421400	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr14:81421200-81421400	Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr14:81421200-81421400	Active TSS	Primary B cells from cord blood	blood
22	chr14:81421200-81421400	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr14:81421200-81421400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81421200-81421400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:81421200-81421400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:81421200-81421400	Active TSS	Liver	Liver
27	chr14:81421200-81421400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr14:81421200-81421400	Active TSS	Esophagus	oesophagus
29	chr14:81421200-81421400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr14:81421200-81421400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr14:81421200-81421400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr14:81421200-81421400	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr14:81421200-81421400	Active TSS	Fetal Muscle Leg	muscle
34	chr14:81421200-81421400	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr14:81421200-81421400	Active TSS	Gastric	stomach
36	chr14:81421200-81421400	Active TSS	Pancreas	Pancrea
37	chr14:81421200-81421400	Active TSS	Right Ventricle	heart
38	chr14:81421200-81421400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr14:81421200-81421400	Active TSS	NHEK	skin
40	chr14:81421200-81421600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:81421200-81421600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
43	chr14:81421200-81421600	Active TSS	Primary T cells from cord blood	blood
44	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr14:81421200-81421600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:81421200-81421600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:81421200-81421600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr14:81421200-81421600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:81421200-81421600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:81421200-81421600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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