Variant report

Variant	rs2168241
Chromosome Location	chr14:69865281-69865282
allele	C/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	IRF4	chr14:69864893-69865663	GM12878	blood:	n/a	n/a
2	RCOR1	chr14:69864794-69865634	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:69864341-69865807	PFSK-1	brain:	n/a	n/a
4	YY1	chr14:69864833-69865688	A549	lung:	n/a	chr14:69865141-69865163 chr14:69865307-69865317 chr14:69865307-69865317 chr14:69864885-69864896 chr14:69864980-69864994 chr14:69865139-69865158 chr14:69865295-69865317
5	UBTF	chr14:69864575-69865532	K562	blood:	n/a	n/a
6	SPI1	chr14:69865242-69865496	K562	blood:	n/a	n/a
7	MAX	chr14:69864902-69865723	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIX5	chr14:69864933-69865496	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr14:69864710-69865765	A549	lung:	n/a	n/a
10	POLR2A	chr14:69864449-69865904	GM12891	blood:	n/a	n/a
11	RELA	chr14:69864638-69866008	GM15510	blood:	n/a	chr14:69865977-69865986 chr14:69865977-69865986
12	CEBPB	chr14:69864757-69865594	A549	lung:	n/a	n/a
13	YY1	chr14:69864758-69865881	H1-hESC	embryonic stem cell:	n/a	chr14:69865141-69865163 chr14:69865307-69865317 chr14:69865307-69865317 chr14:69864885-69864896 chr14:69864980-69864994 chr14:69865139-69865158 chr14:69865295-69865317
14	PML	chr14:69864325-69865879	GM12878	blood:	n/a	n/a
15	PML	chr14:69864520-69865689	MCF-7	breast:	n/a	n/a
16	ZNF384	chr14:69864993-69865345	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:69864756-69865644	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr14:69865253-69865703	HepG2	liver:	n/a	n/a
19	POLR2A	chr14:69864641-69865703	GM12878	blood:	n/a	n/a
20	TAF1	chr14:69864832-69865600	PFSK-1	brain:	n/a	n/a
21	GABPA	chr14:69864729-69865699	HL-60	blood:	n/a	n/a
22	GATA3	chr14:69864896-69865618	T-47D	breast:	n/a	n/a
23	ZBTB33	chr14:69864619-69865633	A549	lung:	n/a	chr14:69864958-69864967 chr14:69864685-69864694
24	ZNF143	chr14:69864942-69865510	K562	blood:	n/a	n/a
25	STAT1	chr14:69864764-69865514	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:69864775-69865600	HepG2	liver:	n/a	n/a
27	NFATC1	chr14:69864846-69865475	GM12878	blood:	n/a	n/a
28	REST	chr14:69865225-69865743	HepG2	liver:	n/a	n/a
29	GABPA	chr14:69864692-69865575	GM12878	blood:	n/a	n/a
30	EGR1	chr14:69864959-69865551	ECC-1	luminal epithelium:	n/a	chr14:69865369-69865384 chr14:69865106-69865115 chr14:69865371-69865385 chr14:69865352-69865361 chr14:69865391-69865400
31	CTCF	chr14:69864989-69865569	K562	blood:	n/a	n/a
32	TAF1	chr14:69864703-69865644	H1-neurons	neurons:	n/a	n/a
33	MAFF	chr14:69864939-69865507	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:69864688-69865658	HepG2	liver:	n/a	n/a
35	GABPA	chr14:69864786-69865730	Hela-S3	cervix:	n/a	n/a
36	EBF1	chr14:69864997-69865542	GM12878	blood:	n/a	n/a
37	POU2F2	chr14:69865252-69865696	GM12878	blood:	n/a	n/a
38	TEAD4	chr14:69864866-69865613	K562	blood:	n/a	n/a
39	GTF2F1	chr14:69864892-69865617	H1-hESC	embryonic stem cell:	n/a	n/a
40	ETS1	chr14:69864645-69865756	A549	lung:	n/a	chr14:69865391-69865400 chr14:69864648-69864659 chr14:69865105-69865118 chr14:69865106-69865115 chr14:69865352-69865363 chr14:69865392-69865403 chr14:69865042-69865058 chr14:69865106-69865115 chr14:69865352-69865361 chr14:69865103-69865119 chr14:69865392-69865402 chr14:69865106-69865115 chr14:69865046-69865059 chr14:69865352-69865361 chr14:69865106-69865115 chr14:69865104-69865114 chr14:69865033-69865042 chr14:69865106-69865115 chr14:69865049-69865058 chr14:69865050-69865060 chr14:69865391-69865400 chr14:69865387-69865403 chr14:69865353-69865363 chr14:69865049-69865058
41	TAF1	chr14:69864445-69865738	H1-hESC	embryonic stem cell:	n/a	n/a
42	CUX1	chr14:69865042-69865932	K562	blood:	n/a	n/a
43	HEY1	chr14:69864461-69865689	K562	blood:	n/a	n/a
44	TAF1	chr14:69864461-69865736	A549	lung:	n/a	n/a
45	TCF7L2	chr14:69864757-69865436	HCT-116	colon:	n/a	n/a
46	POLR2A	chr14:69863965-69866195	HepG2	liver:	n/a	n/a
47	MYC	chr14:69864566-69865721	K562	blood:	n/a	chr14:69864653-69864662
48	RUNX3	chr14:69864577-69865721	GM12878	blood:	n/a	n/a
49	CREB1	chr14:69864774-69865608	ECC-1	luminal epithelium:	n/a	n/a
50	JUND	chr14:69864776-69865645	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69865233-69865283	NHBE	bronchial:	n/a
2	chr14:69865263-69865313	HRE	kidney:	n/a
3	chr14:69865233-69865283	RPTEC	kidney:	n/a
4	chr14:69865263-69865313	NHDF-neo	bronchial:	n/a
5	chr14:69865233-69865283	BJ	skin:	n/a
6	chr14:69865233-69865283	H1-hESC	embryonic stem cell:	embryo
7	chr14:69865263-69865313	SAEC	small airway:	n/a
8	chr14:69865233-69865283	NH-A	brain:	n/a
9	chr14:69865233-69865283	HPAEpiC	pulmonary alveolar:	n/a
10	chr14:69865263-69865313	ECC-1	luminal epithelium:	n/a
11	chr14:69865263-69865313	AG09309	skin:	n/a
12	chr14:69865263-69865313	SK-N-MC	brain:	n/a
13	chr14:69865233-69865283	HMEC	breast:	n/a
14	chr14:69865263-69865313	PFSK-1	brain:	n/a
15	chr14:69865263-69865313	GM19239	blood:	n/a
16	chr14:69865263-69865313	IMR90	lung:	fetal
17	chr14:69865233-69865283	Hepatocyte	liver:	n/a
18	chr14:69865233-69865283	NHDF-neo	bronchial:	n/a
19	chr14:69865233-69865283	Jurkat	blood:	n/a
20	chr14:69865263-69865313	HUVEC	blood vessel:	n/a
21	chr14:69865263-69865313	HEEpiC	esophagus:	n/a
22	chr14:69865233-69865283	HL-60	blood:	n/a
23	chr14:69865233-69865283	PANC-1	pancreas:	n/a
24	chr14:69865263-69865313	BE2_C	brain:	n/a
25	chr14:69865263-69865313	NT2-D1	testis:	n/a
26	chr14:69865233-69865283	AG09319	gingival:	n/a
27	chr14:69865263-69865313	SK-N-SH	brain:	n/a
28	chr14:69865263-69865313	HRPEpiC	eye:	n/a
29	chr14:69865263-69865313	K562	blood:	n/a
30	chr14:69865263-69865313	BJ	skin:	n/a
31	chr14:69865233-69865283	T-47D	breast:	n/a
32	chr14:69865263-69865313	LNCaP	prostate:	n/a
33	chr14:69865233-69865283	NB4	blood:	n/a
34	chr14:69865263-69865313	HCF	heart:	n/a
35	chr14:69865263-69865313	NH-A	brain:	n/a
36	chr14:69865233-69865283	AG04450	lung:	fetal
37	chr14:69865263-69865313	HAEpiC	amniotic membrane:	n/a
38	chr14:69865263-69865313	HCT-116	colon:	n/a
39	chr14:69865233-69865283	HEK293	kidney:	embryo
40	chr14:69865233-69865283	HCF	heart:	n/a
41	chr14:69865263-69865313	GM06990	blood:	n/a
42	chr14:69865233-69865283	LNCaP	prostate:	n/a
43	chr14:69865233-69865283	HUVEC	blood vessel:	n/a
44	chr14:69865233-69865283	U87	brain:	n/a
45	chr14:69865233-69865283	GM12878	blood:	n/a
46	chr14:69865263-69865313	MCF10A-Er-Src	breast:	n/a
47	chr14:69865263-69865313	SK-N-SH_RA	brain:	n/a
48	chr14:69865233-69865283	HCM	heart:	n/a
49	chr14:69865263-69865313	PrEC	prostate:	n/a
50	chr14:69865263-69865313	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69863611..69866530-chr14:81685832..81688549,2	K562	blood:
2	chr14:69864800..69865430-chr6:35227423..35228019,2	Hela-S3	cervix:
3	chr14:69618202..69621032-chr14:69863576..69866501,3	MCF-7	breast:
4	chr11:62609120..62609643-chr14:69864904..69865433,2	Hela-S3	cervix:
5	chr14:69864148..69866880-chr14:70234778..70237310,2	MCF-7	breast:
6	chr10:30722192..30723095-chr14:69864902..69865543,2	Hela-S3	cervix:
7	chr14:69865072..69867138-chr14:69919938..69922880,2	MCF-7	breast:
8	chr14:69864655..69865482-chr8:38126347..38126872,2	Hela-S3	cervix:
9	chr14:69864750..69865963-chrX:153626613..153627599,3	Hela-S3	cervix:
10	chr14:69864846..69866528-chr14:70232343..70235201,2	K562	blood:

Variant related genes	Relation type
ERH	TF binding region
SLC39A9	TF binding region
SLC39A9	CpG island
ERH	CpG island
ENSG00000029364	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000107968	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000165417	Chromatin interaction
ENSG00000147535	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000139990	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1010661	0.80[CEU][hapmap]
rs10130642	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131686	0.93[AMR][1000 genomes]
rs10132626	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10137655	0.86[YRI][hapmap];0.93[AMR][1000 genomes]
rs10137668	0.95[YRI][hapmap];0.93[AMR][1000 genomes]
rs10142738	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148090	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150434	0.93[AMR][1000 genomes]
rs11620664	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624753	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624756	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847666	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12147167	0.93[AMR][1000 genomes]
rs12147983	0.93[AMR][1000 genomes]
rs12147999	0.93[AMR][1000 genomes]
rs12185028	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12385913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764155	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1952255	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015547	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2061088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28531897	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28616724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286134	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45536240	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55751520	0.93[AMR][1000 genomes]
rs57148905	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57675317	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57941356	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59116152	0.93[AMR][1000 genomes]
rs59181716	0.93[AMR][1000 genomes]
rs60238702	0.93[AMR][1000 genomes]
rs61436917	0.93[AMR][1000 genomes]
rs61564515	0.93[AMR][1000 genomes]
rs7143230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152301	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155178	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161463	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72722198	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722199	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72723815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723830	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723840	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723847	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72723850	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723857	0.93[AMR][1000 genomes]
rs74061833	0.89[AMR][1000 genomes]
rs8016334	0.91[ASN][1000 genomes]
rs8016618	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630395	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69863400-69866000	Active TSS	Psoas Muscle	Psoas
2	chr14:69863600-69865800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:69863600-69865800	Active TSS	Right Ventricle	heart
4	chr14:69863600-69866400	Active TSS	HMEC	breast
5	chr14:69863600-69867000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:69863600-69867800	Active TSS	Right Atrium	heart
7	chr14:69863600-69868200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:69863600-69869200	Active TSS	K562	blood
9	chr14:69863800-69866400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:69863800-69866400	Active TSS	HSMMtube	muscle
11	chr14:69863800-69866600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr14:69863800-69866800	Active TSS	Stomach Mucosa	stomach
13	chr14:69863800-69867000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:69863800-69867200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:69863800-69867600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:69863800-69867800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:69863800-69869000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:69864000-69866000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:69864000-69866000	Active TSS	Ovary	ovary
20	chr14:69864000-69866200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr14:69864000-69866200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:69864000-69866200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:69864000-69866200	Active TSS	Aorta	Aorta
24	chr14:69864000-69866200	Active TSS	Esophagus	oesophagus
25	chr14:69864000-69866400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:69864000-69866400	Active TSS	Hela-S3	cervix
27	chr14:69864000-69866600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:69864000-69866800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:69864000-69867000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:69864000-69867000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:69864000-69867000	Active TSS	GM12878-XiMat	blood
32	chr14:69864000-69867800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:69864000-69868200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:69864200-69865400	Active TSS	Brain Germinal Matrix	brain
35	chr14:69864200-69865800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:69864200-69865800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:69864200-69865800	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr14:69864200-69865800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr14:69864200-69865800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:69864200-69865800	Active TSS	Brain Hippocampus Middle	brain
41	chr14:69864200-69865800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:69864200-69865800	Active TSS	Gastric	stomach
43	chr14:69864200-69865800	Active TSS	Lung	lung
44	chr14:69864200-69865800	Active TSS	NH-A	brain
45	chr14:69864200-69866000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr14:69864200-69866000	Active TSS	Fetal Lung	lung
47	chr14:69864200-69866000	Active TSS	Fetal Stomach	stomach
48	chr14:69864200-69866000	Active TSS	Spleen	Spleen
49	chr14:69864200-69866000	Active TSS	Dnd41	blood
50	chr14:69864200-69866000	Active TSS	HUVEC	blood vessel

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