Variant report

Variant	rs57471121
Chromosome Location	chr14:21571223-21571224
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	MYC	chr14:21570680-21572957	K562	blood:	n/a	chr14:21572210-21572219
3	MAX	chr14:21571214-21573008	Hela-S3	cervix:	n/a	chr14:21572210-21572219
4	REST	chr14:21570711-21573298	H1-neurons	neurons:	n/a	chr14:21572162-21572176 chr14:21571886-21571906 chr14:21573007-21573025 chr14:21571887-21571905
5	MAX	chr14:21571090-21573149	A549	lung:	n/a	chr14:21572210-21572219
6	SMARCC1	chr14:21570347-21573203	Hela-S3	cervix:	n/a	chr14:21572210-21572219 chr14:21571815-21571824
7	HEY1	chr14:21571157-21573175	HepG2	liver:	n/a	chr14:21572382-21572397
8	GTF2F1	chr14:21570940-21573040	Hela-S3	cervix:	n/a	n/a
9	GTF2F1	chr14:21571189-21571365	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:21571123-21573645	A549	lung:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
11	USF1	chr14:21571183-21571558	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr14:21570425-21572898	Hela-S3	cervix:	n/a	chr14:21572210-21572219
13	MAX	chr14:21571197-21573276	MCF-7	breast:	n/a	chr14:21572210-21572219
14	POLR2A	chr14:21571190-21573217	HepG2	liver:	n/a	n/a
15	SMARCC2	chr14:21571180-21572988	Hela-S3	cervix:	n/a	chr14:21572210-21572219 chr14:21571815-21571824
16	NFIC	chr14:21570898-21573145	HepG2	liver:	n/a	n/a
17	ELF1	chr14:21571192-21572869	GM12878	blood:	n/a	chr14:21572386-21572395
18	CTCF	chr14:21571080-21571230	HepG2	liver:	n/a	n/a
19	MYC	chr14:21570660-21572961	Hela-S3	cervix:	n/a	chr14:21572210-21572219
20	TEAD4	chr14:21571107-21573052	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:21570720-21573406	Raji	blood:	n/a	n/a
22	POLR2A	chr14:21570779-21573142	K562	blood:	n/a	n/a
23	MTA3	chr14:21571210-21573646	GM12878	blood:	n/a	n/a
24	HCFC1	chr14:21571052-21573640	Hela-S3	cervix:	n/a	n/a
25	JUND	chr14:21570997-21573590	SK-N-SH	brain:	n/a	chr14:21572209-21572220 chr14:21572211-21572219 chr14:21572209-21572221 chr14:21573119-21573133
26	MXI1	chr14:21571147-21572951	Hela-S3	cervix:	n/a	n/a
27	MAX	chr14:21571146-21572976	SK-N-SH	brain:	n/a	chr14:21572210-21572219
28	USF2	chr14:21570901-21572012	Hela-S3	cervix:	n/a	n/a
29	MAX	chr14:21571193-21572976	SK-N-SH	brain:	n/a	chr14:21572210-21572219
30	POLR2A	chr14:21571095-21573571	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21500318..21502814-chr14:21570831..21572874,2	MCF-7	breast:
2	chr14:21490094..21494864-chr14:21570311..21573560,5	MCF-7	breast:
3	chr14:21557595..21561276-chr14:21569876..21572764,3	K562	blood:
4	chr14:21548790..21550824-chr14:21570326..21573166,2	MCF-7	breast:
5	chr14:21490497..21493349-chr14:21570966..21572824,2	MCF-7	breast:
6	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
7	chr14:21554536..21557274-chr14:21571026..21572817,2	K562	blood:
8	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
9	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
10	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:
11	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
ENSG00000258714	Chromatin interaction
ENSG00000255472	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000258604	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10146334	0.80[ASN][1000 genomes]
rs11621987	0.80[ASN][1000 genomes]
rs2274679	0.80[ASN][1000 genomes]
rs2274680	0.80[ASN][1000 genomes]
rs2274682	0.97[ASN][1000 genomes]
rs28645145	0.80[EUR][1000 genomes]
rs3827912	0.80[ASN][1000 genomes]
rs61405772	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61744857	0.80[ASN][1000 genomes]
rs73571904	0.88[ASN][1000 genomes]
rs73571905	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73571913	0.82[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21567400-21571400	Weak transcription	Small Intestine	intestine
2	chr14:21567400-21571400	Enhancers	Stomach Mucosa	stomach
3	chr14:21567400-21571600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:21567600-21571400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr14:21567800-21571400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:21567800-21571400	Weak transcription	Primary T cells from cord blood	blood
7	chr14:21567800-21571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:21567800-21571400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:21567800-21571400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:21567800-21571400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:21567800-21571400	Enhancers	Esophagus	oesophagus
12	chr14:21567800-21571400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:21567800-21571400	Weak transcription	Left Ventricle	heart
14	chr14:21567800-21571400	Weak transcription	Psoas Muscle	Psoas
15	chr14:21567800-21571400	Weak transcription	Right Ventricle	heart
16	chr14:21567800-21571600	Weak transcription	Aorta	Aorta
17	chr14:21567800-21571600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:21567800-21572000	Weak transcription	Ovary	ovary
19	chr14:21568000-21571400	Weak transcription	Right Atrium	heart
20	chr14:21568200-21571400	Weak transcription	Fetal Kidney	kidney
21	chr14:21569400-21571800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr14:21569600-21571600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:21570000-21571400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:21570000-21571400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr14:21570000-21571400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr14:21570000-21571600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:21570000-21571600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:21570000-21571600	Enhancers	Gastric	stomach
29	chr14:21570000-21571800	Flanking Active TSS	Colonic Mucosa	Colon
30	chr14:21570000-21571800	Flanking Active TSS	Hela-S3	cervix
31	chr14:21570000-21571800	Flanking Active TSS	K562	blood
32	chr14:21570200-21571400	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:21570200-21571600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:21570200-21571600	Flanking Active TSS	Dnd41	blood
35	chr14:21570200-21571800	Flanking Active TSS	NHEK	skin
36	chr14:21570400-21571400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr14:21570400-21571400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr14:21570400-21571400	Enhancers	NHDF-Ad	bronchial
39	chr14:21570400-21571400	Enhancers	NHLF	lung
40	chr14:21570400-21571600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:21570400-21571600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:21570400-21571800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:21570400-21571800	Flanking Active TSS	HMEC	breast
44	chr14:21570600-21571400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:21570600-21571400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr14:21570600-21571400	Enhancers	Brain Anterior Caudate	brain
47	chr14:21570600-21571400	Enhancers	Colon Smooth Muscle	Colon
48	chr14:21570600-21571400	Enhancers	Fetal Lung	lung
49	chr14:21570600-21571400	Enhancers	Fetal Muscle Leg	muscle
50	chr14:21570600-21571400	Flanking Active TSS	A549	lung

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