Variant report

Variant	rs531094997
Chromosome Location	chr14:64009374-64009375
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	POLR2A	chr14:64009030-64010730	Hela-S3	cervix:	n/a	n/a
2	SIN3A	chr14:64008754-64010969	H1-hESC	embryonic stem cell:	n/a	chr14:64010095-64010104 chr14:64010523-64010534
3	POLR2A	chr14:64009198-64010639	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr14:64008897-64010587	Hela-S3	cervix:	n/a	n/a
5	PML	chr14:64008954-64009544	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:64009338-64010820	HepG2	liver:	n/a	n/a
7	CHD2	chr14:64009061-64010683	Hela-S3	cervix:	n/a	chr14:64009281-64009291 chr14:64009463-64009473
8	UBTF	chr14:64009366-64010708	K562	blood:	n/a	n/a
9	ELF1	chr14:64009300-64010789	MCF-7	breast:	n/a	chr14:64009858-64009867 chr14:64009852-64009861 chr14:64010320-64010329 chr14:64009723-64009732 chr14:64009855-64009864 chr14:64009853-64009865 chr14:64010098-64010110 chr14:64010102-64010111 chr14:64009718-64009730
10	TAF1	chr14:64008936-64010955	H1-hESC	embryonic stem cell:	n/a	n/a
11	MXI1	chr14:64008142-64011104	IMR90	lung:	n/a	n/a
12	SMARCB1	chr14:64009279-64010807	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr14:64009341-64010572	K562	blood:	n/a	chr14:64009369-64009378 chr14:64010495-64010504
14	TCF7L2	chr14:64009319-64010612	HCT-116	colon:	n/a	n/a
15	GATA3	chr14:64008635-64010744	MCF-7	breast:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
16	POLR2A	chr14:64009337-64010832	K562	blood:	n/a	n/a
17	UBTF	chr14:64009266-64010579	K562	blood:	n/a	n/a
18	TBP	chr14:64009072-64009486	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:64009077-64010693	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr14:64009041-64010741	A549	lung:	n/a	n/a
21	POLR2A	chr14:64009149-64010835	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:64009213-64010683	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:64009341-64010690	MCF-7	breast:	n/a	n/a
24	POLR2A	chr14:64009005-64009543	Hela-S3	cervix:	n/a	n/a
25	MAZ	chr14:64009090-64010622	K562	blood:	n/a	n/a
26	RAD21	chr14:64008802-64009376	SK-N-SH_RA	brain:	n/a	chr14:64009285-64009297
27	MAFK	chr14:64008207-64009429	Hela-S3	cervix:	n/a	chr14:64008316-64008327 chr14:64009076-64009091
28	POLR2A	chr14:64009258-64009569	ProgFib	skin:	n/a	n/a
29	MAX	chr14:64008804-64010740	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:64009364-64010997	GM18505	blood:	n/a	n/a
31	MAZ	chr14:64009076-64010694	GM12878	blood:	n/a	n/a
32	SIN3AK20	chr14:64008561-64011141	MCF-7	breast:	n/a	n/a
33	SMC3	chr14:64008859-64009401	Hela-S3	cervix:	n/a	n/a
34	RUNX3	chr14:64009306-64009662	GM12878	blood:	n/a	n/a
35	EGR1	chr14:64008861-64009652	MCF-7	breast:	n/a	chr14:64009216-64009229 chr14:64009216-64009229 chr14:64009217-64009228 chr14:64009216-64009229 chr14:64009216-64009229 chr14:64009217-64009226 chr14:64009568-64009582 chr14:64009283-64009296 chr14:64009215-64009229 chr14:64009215-64009230 chr14:64009216-64009226
36	HCFC1	chr14:64009196-64011098	Hela-S3	cervix:	n/a	n/a
37	HMGN3	chr14:64009373-64010567	K562	blood:	n/a	n/a
38	EGR1	chr14:64009358-64009658	K562	blood:	n/a	chr14:64009568-64009582
39	POLR2A	chr14:64009326-64009411	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:64009067-64010693	H1-neurons	neurons:	n/a	n/a
41	REST	chr14:64008542-64011077	H1-neurons	neurons:	n/a	chr14:64009471-64009481 chr14:64009469-64009483
42	MXI1	chr14:64007959-64011998	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr14:64009129-64011126	SK-N-MC	brain:	n/a	n/a
44	MTA3	chr14:64008915-64010951	GM12878	blood:	n/a	n/a
45	GATA3	chr14:64008607-64009591	SK-N-SH	brain:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
46	GATA3	chr14:64008657-64010617	MCF-7	breast:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
47	MAZ	chr14:64009121-64010601	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr14:64009329-64010700	GM12878	blood:	n/a	n/a
49	POLR2A	chr14:64009236-64009400	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr14:64009293-64010798	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:76428210..76428948-chr14:64008897..64009613,2	HCT-116	colon:
2	chr14:64007697..64011476-chr14:64104829..64109373,5	K562	blood:
3	chr14:64008866..64010910-chr14:64088046..64091397,3	MCF-7	breast:
4	chr14:64008001..64011840-chr14:64106623..64112419,9	MCF-7	breast:
5	chr14:64008641..64011329-chr14:64106976..64109877,3	K562	blood:

Variant related genes	Relation type
ENSG00000261242	TF binding region
ENSG00000206822	Chromatin interaction
ENSG00000140006	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv3372681	chr14:64008624-64011172	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr14:64007800-64011400	Active TSS	NHLF	lung
2	chr14:64007800-64011600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:64008000-64011200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:64008000-64011200	Active TSS	Fetal Intestine Small	intestine
5	chr14:64008000-64011600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:64008000-64011600	Active TSS	Right Ventricle	heart
7	chr14:64008200-64009400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:64008200-64009400	Flanking Active TSS	Liver	Liver
9	chr14:64008200-64010800	Active TSS	Fetal Brain Male	brain
10	chr14:64008200-64011200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr14:64008200-64011200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr14:64008200-64011200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:64008200-64011200	Active TSS	Right Atrium	heart
14	chr14:64008200-64011400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:64008200-64011600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:64008200-64011600	Active TSS	HMEC	breast
17	chr14:64008200-64011800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:64008200-64011800	Active TSS	Stomach Smooth Muscle	stomach
19	chr14:64008400-64009400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr14:64008400-64009600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:64008400-64010800	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr14:64008400-64010800	Active TSS	Brain Angular Gyrus	brain
23	chr14:64008400-64010800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr14:64008400-64011000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:64008400-64011000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:64008400-64011200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:64008400-64011200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:64008400-64011200	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr14:64008400-64011200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:64008400-64011200	Active TSS	Fetal Kidney	kidney
31	chr14:64008400-64011200	Active TSS	Fetal Stomach	stomach
32	chr14:64008400-64011200	Active TSS	HSMM	muscle
33	chr14:64008400-64011400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:64008400-64011400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr14:64008400-64011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:64008400-64011600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:64008400-64011600	Active TSS	A549	lung
38	chr14:64008400-64011600	Active TSS	K562	blood
39	chr14:64008400-64011600	Active TSS	NH-A	brain
40	chr14:64008400-64011600	Active TSS	NHDF-Ad	bronchial
41	chr14:64008400-64011800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:64008600-64009400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:64008600-64009400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:64008600-64009400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr14:64008600-64009400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr14:64008600-64009600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr14:64008600-64009600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr14:64008600-64010000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:64008600-64011000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:64008600-64011000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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