Variant report

Variant	rs73307598
Chromosome Location	chr14:78226959-78226960
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	SIN3AK20	chr14:78226895-78227634	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr14:78226880-78227030	HAc	cerebellar:	n/a	n/a
3	RAD21	chr14:78226792-78227145	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:78226845-78227871	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:78226609-78227826	U87	brain:	n/a	n/a
6	REST	chr14:78226479-78228189	H1-neurons	neurons:	n/a	chr14:78227159-78227166 chr14:78227167-78227177 chr14:78227159-78227168 chr14:78227828-78227837
7	POLR2A	chr14:78226723-78227800	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:78226828-78228281	Hela-S3	cervix:	n/a	n/a
9	TBL1XR1	chr14:78226893-78227113	K562	blood:	n/a	n/a
10	SMARCB1	chr14:78226877-78227579	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:78226858-78227694	GM12892	blood:	n/a	n/a
12	CHD2	chr14:78226929-78227818	GM12878	blood:	n/a	n/a
13	NRF1	chr14:78226926-78227755	K562	blood:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227556-78227567 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
14	POLR2A	chr14:78226538-78227869	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr14:78226824-78227850	Raji	blood:	n/a	n/a
16	TCF12	chr14:78226576-78228335	A549	lung:	n/a	n/a
17	TAF1	chr14:78226842-78227636	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr14:78226858-78227222	K562	blood:	n/a	chr14:78227159-78227166 chr14:78227167-78227177 chr14:78227159-78227168
19	RCOR1	chr14:78226768-78227778	GM12878	blood:	n/a	n/a
20	CTCF	chr14:78226765-78227627	GM12878	blood:	n/a	n/a
21	CHD2	chr14:78226832-78227761	H1-hESC	embryonic stem cell:	n/a	n/a
22	EP300	chr14:78226849-78228325	K562	blood:	n/a	chr14:78227307-78227323
23	POLR2A	chr14:78226909-78227854	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr14:78226860-78227010	HBMEC	blood vessel:	n/a	n/a
25	RELA	chr14:78226808-78228163	GM19099	blood:	n/a	n/a
26	GATA1	chr14:78226548-78228341	PBDE	blood:	n/a	chr14:78226691-78226701
27	BACH1	chr14:78226943-78227236	H1-hESC	embryonic stem cell:	n/a	n/a
28	GABPA	chr14:78226634-78227910	SK-N-SH	brain:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
29	CTCF	chr14:78226900-78227050	HRPEpiC	eye:	n/a	n/a
30	POLR2A	chr14:78226848-78227613	GM12878	blood:	n/a	n/a
31	TAF1	chr14:78226738-78227727	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:78226773-78227760	GM15510	blood:	n/a	n/a
33	CTCF	chr14:78226880-78227030	AG09319	gingival:	n/a	n/a
34	CREB1	chr14:78226930-78227808	GM12878	blood:	n/a	n/a
35	POLR2A	chr14:78226850-78228186	K562	blood:	n/a	n/a
36	BRCA1	chr14:78226948-78228257	Hela-S3	cervix:	n/a	n/a
37	MYC	chr14:78226902-78228302	K562	blood:	n/a	chr14:78227340-78227349
38	CTCF	chr14:78226880-78227030	HCM	heart:	n/a	n/a
39	RAD21	chr14:78226703-78228308	IMR90	lung:	n/a	n/a
40	HEY1	chr14:78226805-78227698	K562	blood:	n/a	chr14:78227065-78227080
41	MXI1	chr14:78226827-78228241	Hela-S3	cervix:	n/a	chr14:78226834-78226849
42	TAF1	chr14:78226881-78227640	SK-N-SH	brain:	n/a	n/a
43	NRF1	chr14:78226881-78228170	H1-hESC	embryonic stem cell:	n/a	chr14:78227557-78227571 chr14:78227554-78227568 chr14:78227556-78227567 chr14:78227475-78227482 chr14:78227557-78227568 chr14:78227557-78227566
44	RCOR1	chr14:78226504-78228299	K562	blood:	n/a	n/a
45	TAF1	chr14:78226914-78227648	K562	blood:	n/a	n/a
46	POLR2A	chr14:78226954-78227810	PFSK-1	brain:	n/a	n/a
47	YY1	chr14:78226760-78227767	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr14:78226431-78228211	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr14:78226258-78228556	A549	lung:	n/a	n/a
50	POLR2A	chr14:78226394-78228258	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:78226923-78226973	SK-N-MC	brain:	n/a
2	chr14:78226923-78226973	ProgFib	skin:	n/a
3	chr14:78226923-78226973	AoSMC	blood vessel:	n/a
4	chr14:78226923-78226973	MCF10A-Er-Src	breast:	n/a
5	chr14:78226923-78226973	HEEpiC	esophagus:	n/a
6	chr14:78226923-78226973	GM12878	blood:	n/a
7	chr14:78226923-78226973	GM19239	blood:	n/a
8	chr14:78226923-78226973	GM06990	blood:	n/a
9	chr14:78226923-78226973	HAEpiC	amniotic membrane:	n/a
10	chr14:78226923-78226973	NH-A	brain:	n/a
11	chr14:78226923-78226973	ovcar-3	ovarian:	n/a
12	chr14:78226923-78226973	SK-N-SH	brain:	n/a
13	chr14:78226923-78226973	HCM	heart:	n/a
14	chr14:78226923-78226973	HRPEpiC	eye:	n/a
15	chr14:78226923-78226973	H1-hESC	embryonic stem cell:	embryo
16	chr14:78226923-78226973	NHBE	bronchial:	n/a
17	chr14:78226923-78226973	BJ	skin:	n/a
18	chr14:78226923-78226973	IMR90	lung:	fetal
19	chr14:78226923-78226973	GM12892	blood:	n/a
20	chr14:78226923-78226973	HIPEpiC	eye:	n/a
21	chr14:78226923-78226973	HRE	kidney:	n/a
22	chr14:78226923-78226973	HNPCEpiC	eye:	n/a
23	chr14:78226923-78226973	U87	brain:	n/a
24	chr14:78226923-78226973	ECC-1	luminal epithelium:	n/a
25	chr14:78226923-78226973	HPAEpiC	pulmonary alveolar:	n/a
26	chr14:78226923-78226973	CMK	blood:	n/a
27	chr14:78226923-78226973	Jurkat	blood:	n/a
28	chr14:78226923-78226973	HCF	heart:	n/a
29	chr14:78226923-78226973	AG09319	gingival:	n/a
30	chr14:78226923-78226973	HRCEpiC	kidney:	n/a
31	chr14:78226923-78226973	AG09309	skin:	n/a
32	chr14:78226923-78226973	SK-N-SH_RA	brain:	n/a
33	chr14:78226923-78226973	HCPEpiC	choroid plexus:	n/a
34	chr14:78226923-78226973	NB4	blood:	n/a
35	chr14:78226923-78226973	K562	blood:	n/a
36	chr14:78226923-78226973	Hepatocyte	liver:	n/a
37	chr14:78226923-78226973	Hela-S3	cervix:	n/a
38	chr14:78226923-78226973	NHDF-neo	bronchial:	n/a
39	chr14:78226923-78226973	HepG2	liver:	n/a
40	chr14:78226923-78226973	Caco-2	colon:	n/a
41	chr14:78226923-78226973	HUVEC	blood vessel:	n/a
42	chr14:78226923-78226973	HMEC	breast:	n/a
43	chr14:78226923-78226973	AG04449	skin:	fetal
44	chr14:78226923-78226973	RPTEC	kidney:	n/a
45	chr14:78226923-78226973	HEK293	kidney:	embryo
46	chr14:78226923-78226973	GM12891	blood:	n/a
47	chr14:78226923-78226973	AG10803	skin:	n/a
48	chr14:78226923-78226973	HCT-116	colon:	n/a
49	chr14:78226923-78226973	PrEC	prostate:	n/a
50	chr14:78226923-78226973	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
2	chr14:78173969..78175847-chr14:78226797..78229509,2	MCF-7	breast:
3	chr14:78225549..78228360-chr14:78265163..78268062,4	K562	blood:

Variant related genes	Relation type
C14orf178	TF binding region
C14orf178	CpG island
ENSG00000063761	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17106214	1.00[EUR][1000 genomes]
rs58016276	1.00[EUR][1000 genomes]
rs58620350	1.00[EUR][1000 genomes]
rs59532454	1.00[EUR][1000 genomes]
rs60806343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7141447	1.00[EUR][1000 genomes]
rs73307387	1.00[EUR][1000 genomes]
rs73309309	1.00[EUR][1000 genomes]
rs73309329	1.00[EUR][1000 genomes]
rs73313131	1.00[EUR][1000 genomes]
rs73313136	1.00[EUR][1000 genomes]
rs73313147	1.00[EUR][1000 genomes]
rs73313149	1.00[EUR][1000 genomes]
rs73319431	1.00[EUR][1000 genomes]
rs73319432	1.00[EUR][1000 genomes]
rs73319433	1.00[EUR][1000 genomes]
rs73319436	1.00[EUR][1000 genomes]
rs73319440	1.00[EUR][1000 genomes]
rs8003070	1.00[EUR][1000 genomes]
rs8014573	1.00[EUR][1000 genomes]
rs8020702	1.00[EUR][1000 genomes]
rs8022673	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 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	chr14:78225600-78228600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:78225800-78227800	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:78226000-78227000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:78226000-78227200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr14:78226000-78228000	Active TSS	GM12878-XiMat	blood
6	chr14:78226200-78227000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr14:78226200-78227000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:78226200-78227800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:78226200-78227800	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr14:78226200-78227800	Active TSS	Small Intestine	intestine
11	chr14:78226200-78228000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr14:78226200-78228000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:78226200-78228200	Active TSS	Right Ventricle	heart
14	chr14:78226200-78228200	Active TSS	A549	lung
15	chr14:78226200-78228200	Active TSS	K562	blood
16	chr14:78226200-78228400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:78226200-78228400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:78226200-78228400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:78226200-78228400	Active TSS	NHDF-Ad	bronchial
20	chr14:78226400-78227000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr14:78226400-78227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:78226400-78227000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr14:78226400-78227200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr14:78226400-78227800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:78226400-78227800	Active TSS	Brain Angular Gyrus	brain
26	chr14:78226400-78228000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:78226400-78228000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr14:78226400-78228000	Active TSS	Aorta	Aorta
29	chr14:78226400-78228000	Active TSS	Fetal Intestine Small	intestine
30	chr14:78226400-78228000	Active TSS	Stomach Mucosa	stomach
31	chr14:78226400-78228200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr14:78226400-78228200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr14:78226400-78228200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:78226400-78228200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:78226400-78228200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:78226400-78228200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:78226400-78228200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:78226400-78228200	Active TSS	Fetal Muscle Trunk	muscle
39	chr14:78226400-78228200	Active TSS	Ovary	ovary
40	chr14:78226400-78228200	Active TSS	Psoas Muscle	Psoas
41	chr14:78226400-78228400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:78226400-78228400	Active TSS	Right Atrium	heart
43	chr14:78226600-78227000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr14:78226600-78227000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr14:78226600-78227000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr14:78226600-78227000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:78226600-78227000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:78226600-78227000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:78226600-78227400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:78226600-78227800	Active TSS	Primary T helper cells PMA-I stimulated	--

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