Variant report

Variant	rs540201621
Chromosome Location	chr14:64008956-64008957
allele	A/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	MXI1	chr14:64008902-64009078	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr14:64008754-64010969	H1-hESC	embryonic stem cell:	n/a	chr14:64010095-64010104 chr14:64010523-64010534
3	RCOR1	chr14:64008787-64009053	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:64008897-64010587	Hela-S3	cervix:	n/a	n/a
5	GATA2	chr14:64008781-64009313	SH-SY5Y	brain:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
6	PML	chr14:64008954-64009544	GM12878	blood:	n/a	n/a
7	TAF1	chr14:64008936-64010955	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr14:64008142-64011104	IMR90	lung:	n/a	n/a
9	RFX5	chr14:64008776-64009187	Hela-S3	cervix:	n/a	n/a
10	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
11	WRNIP1	chr14:64008941-64009192	GM12878	blood:	n/a	n/a
12	GATA3	chr14:64008779-64009205	SH-SY5Y	brain:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
13	RAD21	chr14:64008802-64009376	SK-N-SH_RA	brain:	n/a	chr14:64009285-64009297
14	MAFK	chr14:64008207-64009429	Hela-S3	cervix:	n/a	chr14:64008316-64008327 chr14:64009076-64009091
15	MAX	chr14:64008804-64010740	MCF-7	breast:	n/a	n/a
16	SIN3AK20	chr14:64008561-64011141	MCF-7	breast:	n/a	n/a
17	SMC3	chr14:64008859-64009401	Hela-S3	cervix:	n/a	n/a
18	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
19	REST	chr14:64008542-64011077	H1-neurons	neurons:	n/a	chr14:64009471-64009481 chr14:64009469-64009483
20	MXI1	chr14:64007959-64011998	SK-N-SH	brain:	n/a	n/a
21	MAX	chr14:64008910-64009270	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr14:64008757-64009333	T-47D	breast:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
23	MTA3	chr14:64008915-64010951	GM12878	blood:	n/a	n/a
24	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
25	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
26	REST	chr14:64008919-64009146	SK-N-SH	brain:	n/a	n/a
27	GATA1	chr14:64008686-64009271	PBDE	blood:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
28	GATA3	chr14:64008786-64009253	T-47D	breast:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
29	GATA2	chr14:64008680-64009371	HUVEC	blood vessel:	n/a	chr14:64008823-64008833 chr14:64008821-64008831 chr14:64008824-64008833 chr14:64008820-64008836 chr14:64008824-64008831 chr14:64008817-64008838
30	CTCF	chr14:64008920-64009070	GM12871	blood:	n/a	n/a
31	POLR2A	chr14:64008707-64011020	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr14:64008890-64009504	IMR90	lung:	n/a	chr14:64009285-64009297
33	POLR2A	chr14:64008953-64009632	H1-neurons	neurons:	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:
6	chr14:64007045..64008979-chr14:64009099..64011575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261242	TF binding region
ENSG00000261242	Chromatin interaction
ENSG00000206822	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000154001	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	chr14:63999800-64009000	Weak transcription	Spleen	Spleen
2	chr14:64007800-64009200	Flanking Active TSS	Dnd41	blood
3	chr14:64007800-64011400	Active TSS	NHLF	lung
4	chr14:64007800-64011600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:64008000-64009000	Flanking Active TSS	HUVEC	blood vessel
6	chr14:64008000-64009200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:64008000-64011200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:64008000-64011200	Active TSS	Fetal Intestine Small	intestine
9	chr14:64008000-64011600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:64008000-64011600	Active TSS	Right Ventricle	heart
11	chr14:64008200-64009000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:64008200-64009000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:64008200-64009200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr14:64008200-64009400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:64008200-64009400	Flanking Active TSS	Liver	Liver
16	chr14:64008200-64010800	Active TSS	Fetal Brain Male	brain
17	chr14:64008200-64011200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr14:64008200-64011200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:64008200-64011200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:64008200-64011200	Active TSS	Right Atrium	heart
21	chr14:64008200-64011400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:64008200-64011600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:64008200-64011600	Active TSS	HMEC	breast
24	chr14:64008200-64011800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:64008200-64011800	Active TSS	Stomach Smooth Muscle	stomach
26	chr14:64008400-64009000	Weak transcription	Stomach Mucosa	stomach
27	chr14:64008400-64009200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr14:64008400-64009400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr14:64008400-64009600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:64008400-64010800	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr14:64008400-64010800	Active TSS	Brain Angular Gyrus	brain
32	chr14:64008400-64010800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr14:64008400-64011000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:64008400-64011000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr14:64008400-64011200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:64008400-64011200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:64008400-64011200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr14:64008400-64011200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:64008400-64011200	Active TSS	Fetal Kidney	kidney
40	chr14:64008400-64011200	Active TSS	Fetal Stomach	stomach
41	chr14:64008400-64011200	Active TSS	HSMM	muscle
42	chr14:64008400-64011400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr14:64008400-64011400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:64008400-64011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:64008400-64011600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr14:64008400-64011600	Active TSS	A549	lung
47	chr14:64008400-64011600	Active TSS	K562	blood
48	chr14:64008400-64011600	Active TSS	NH-A	brain
49	chr14:64008400-64011600	Active TSS	NHDF-Ad	bronchial
50	chr14:64008400-64011800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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