Variant report

Variant	rs1057718
Chromosome Location	chr14:21571623-21571624
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	MYBL2	chr14:21571143-21573397	HepG2	liver:	n/a	n/a
2	SMC3	chr14:21571415-21573017	Hela-S3	cervix:	n/a	n/a
3	ETS1	chr14:21571603-21572054	GM12878	blood:	n/a	chr14:21571814-21571827 chr14:21571813-21571826
4	SPI1	chr14:21571609-21571912	GM12878	blood:	n/a	chr14:21571775-21571784 chr14:21571774-21571787 chr14:21571773-21571786
5	POLR2A	chr14:21571591-21572924	Hela-S3	cervix:	n/a	n/a
6	ATF2	chr14:21571604-21572384	GM12878	blood:	n/a	n/a
7	SREBP1	chr14:21571414-21573132	GM12878	blood:	n/a	chr14:21572662-21572673
8	SIN3AK20	chr14:21571517-21572055	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr14:21571298-21572953	K562	blood:	n/a	chr14:21572210-21572219
10	ELF1	chr14:21571593-21572477	SK-N-SH	brain:	n/a	chr14:21572386-21572395
11	HNF4A	chr14:21571614-21572956	HepG2	liver:	n/a	chr14:21572454-21572468 chr14:21572455-21572468 chr14:21572160-21572175 chr14:21572433-21572448 chr14:21572455-21572467 chr14:21572453-21572468 chr14:21572454-21572468 chr14:21572450-21572472 chr14:21572453-21572468 chr14:21572454-21572468
12	CREB1	chr14:21571599-21572467	ECC-1	luminal epithelium:	n/a	n/a
13	NFIC	chr14:21571543-21572724	GM12878	blood:	n/a	n/a
14	TAF1	chr14:21571611-21572778	ECC-1	luminal epithelium:	n/a	n/a
15	USF1	chr14:21571608-21572280	SK-N-SH_RA	brain:	n/a	n/a
16	JUND	chr14:21571448-21572956	H1-hESC	embryonic stem cell:	n/a	chr14:21572209-21572220 chr14:21572211-21572219 chr14:21572209-21572221
17	SIX5	chr14:21571609-21572252	K562	blood:	n/a	chr14:21571817-21571826 chr14:21571815-21571824
18	CREB1	chr14:21571606-21572489	H1-hESC	embryonic stem cell:	n/a	n/a
19	WRNIP1	chr14:21571481-21572050	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:21571598-21572963	MCF-7	breast:	n/a	n/a
21	BCLAF1	chr14:21571601-21572308	GM12878	blood:	n/a	chr14:21572011-21572024 chr14:21571885-21571893
22	KAP1	chr14:21571610-21573311	HEK293	kidney:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
23	YY1	chr14:21571620-21572488	GM12892	blood:	n/a	chr14:21572383-21572394
24	SIX5	chr14:21571540-21572458	A549	lung:	n/a	chr14:21571817-21571826 chr14:21571815-21571824
25	MYC	chr14:21570680-21572957	K562	blood:	n/a	chr14:21572210-21572219
26	SRF	chr14:21571505-21572945	MCF-7	breast:	n/a	n/a
27	USF2	chr14:21571318-21572007	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:21571420-21573825	SK-N-MC	brain:	n/a	n/a
29	PML	chr14:21571581-21573131	GM12878	blood:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
30	MAX	chr14:21571214-21573008	Hela-S3	cervix:	n/a	chr14:21572210-21572219
31	STAT5A	chr14:21571594-21572806	GM12878	blood:	n/a	n/a
32	CTCF	chr14:21571541-21573234	HCT-116	colon:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
33	HDAC2	chr14:21571397-21572979	HepG2	liver:	n/a	chr14:21571886-21571905
34	CTCF	chr14:21571581-21573172	HCT-116	colon:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
35	ATF2	chr14:21571561-21573073	GM12878	blood:	n/a	n/a
36	CREB1	chr14:21571373-21573228	HepG2	liver:	n/a	n/a
37	REST	chr14:21571562-21571852	A549	lung:	n/a	n/a
38	MYBL2	chr14:21571472-21573141	HepG2	liver:	n/a	n/a
39	JUN	chr14:21571590-21572388	H1-hESC	embryonic stem cell:	n/a	chr14:21572211-21572219 chr14:21572209-21572221
40	SIX5	chr14:21571615-21572287	K562	blood:	n/a	chr14:21571817-21571826 chr14:21571815-21571824
41	USF2	chr14:21571605-21572774	GM12878	blood:	n/a	n/a
42	EP300	chr14:21571484-21572528	ECC-1	luminal epithelium:	n/a	chr14:21571741-21571754
43	CCNT2	chr14:21571456-21573007	K562	blood:	n/a	chr14:21572240-21572249 chr14:21572051-21572060
44	HEY1	chr14:21571252-21573501	HepG2	liver:	n/a	chr14:21572382-21572397
45	JUN	chr14:21571438-21573305	K562	blood:	n/a	chr14:21572211-21572219 chr14:21572209-21572221 chr14:21573119-21573133
46	MTA3	chr14:21571347-21571910	GM12878	blood:	n/a	n/a
47	POLR2A	chr14:21571253-21573178	Hela-S3	cervix:	n/a	n/a
48	SMC3	chr14:21571269-21573240	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr14:21571484-21573065	HUVEC	blood vessel:	n/a	n/a
50	SPI1	chr14:21571608-21572014	K562	blood:	n/a	chr14:21571775-21571784 chr14:21571774-21571787 chr14:21571773-21571786

No.	Distal block	Cell Line	Cell type
1	chr14:21571437..21571999-chr6:26285520..26286117,2	Hela-S3	cervix:
2	chr14:21500318..21502814-chr14:21570831..21572874,2	MCF-7	breast:
3	chr14:21490094..21494864-chr14:21570311..21573560,5	MCF-7	breast:
4	chr14:21557595..21561276-chr14:21569876..21572764,3	K562	blood:
5	chr14:21560165..21562060-chr14:21571430..21574537,42	MCF-7	breast:
6	chr14:21548790..21550824-chr14:21570326..21573166,2	MCF-7	breast:
7	chr14:21490497..21493349-chr14:21570966..21572824,2	MCF-7	breast:
8	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
9	chr14:21554536..21557274-chr14:21571026..21572817,2	K562	blood:
10	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
11	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
12	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
13	chr14:21541693..21544085-chr14:21569593..21572197,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDRG2-5	chr14:21569863-21572375	NONHSAT035657

Variant related genes	Relation type
ENSG00000178107	TF binding region
ZNF219	TF binding region
ENSG00000255472	Chromatin interaction
ENSG00000158406	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000258714	Chromatin interaction
ENSG00000165804	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000258604	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11629332	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432043	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12880628	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12884366	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982406	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs7149011	0.91[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription 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	15 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	chr14:21567800-21572000	Weak transcription	Ovary	ovary
2	chr14:21569400-21571800	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr14:21570000-21571800	Flanking Active TSS	Colonic Mucosa	Colon
4	chr14:21570000-21571800	Flanking Active TSS	Hela-S3	cervix
5	chr14:21570000-21571800	Flanking Active TSS	K562	blood
6	chr14:21570200-21571800	Flanking Active TSS	NHEK	skin
7	chr14:21570400-21571800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:21570400-21571800	Flanking Active TSS	HMEC	breast
9	chr14:21570600-21571800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:21570600-21571800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:21570600-21571800	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr14:21570600-21571800	Flanking Active TSS	Fetal Intestine Small	intestine
13	chr14:21570600-21571800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:21570800-21571800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:21570800-21571800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:21570800-21571800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:21570800-21571800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:21571000-21571800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:21571000-21571800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr14:21571000-21571800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:21571000-21571800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr14:21571000-21571800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr14:21571000-21571800	Flanking Active TSS	Fetal Thymus	thymus
24	chr14:21571000-21573000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:21571000-21573000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:21571200-21571800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:21571200-21571800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:21571200-21571800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:21571200-21571800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr14:21571200-21571800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr14:21571200-21571800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr14:21571200-21571800	Flanking Active TSS	Fetal Brain Male	brain
33	chr14:21571200-21571800	Flanking Active TSS	Fetal Stomach	stomach
34	chr14:21571200-21571800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:21571200-21571800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr14:21571200-21571800	Flanking Active TSS	HSMM	muscle
37	chr14:21571200-21571800	Flanking Active TSS	HSMMtube	muscle
38	chr14:21571200-21571800	Flanking Active TSS	NH-A	brain
39	chr14:21571400-21571800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:21571400-21571800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr14:21571400-21571800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr14:21571400-21571800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr14:21571400-21571800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr14:21571400-21571800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr14:21571400-21571800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr14:21571400-21571800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:21571400-21571800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr14:21571400-21571800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:21571400-21571800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr14:21571400-21571800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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