Variant report

Variant	rs12432043
Chromosome Location	chr14:21571119-21571120
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	MYC	chr14:21570680-21572957	K562	blood:	n/a	chr14:21572210-21572219
2	REST	chr14:21570711-21573298	H1-neurons	neurons:	n/a	chr14:21572162-21572176 chr14:21571886-21571906 chr14:21573007-21573025 chr14:21571887-21571905
3	MAX	chr14:21571090-21573149	A549	lung:	n/a	chr14:21572210-21572219
4	SMARCC1	chr14:21570347-21573203	Hela-S3	cervix:	n/a	chr14:21572210-21572219 chr14:21571815-21571824
5	GTF2F1	chr14:21570940-21573040	Hela-S3	cervix:	n/a	n/a
6	MAX	chr14:21570425-21572898	Hela-S3	cervix:	n/a	chr14:21572210-21572219
7	NFIC	chr14:21570898-21573145	HepG2	liver:	n/a	n/a
8	CTCF	chr14:21571080-21571230	HepG2	liver:	n/a	n/a
9	MYC	chr14:21570660-21572961	Hela-S3	cervix:	n/a	chr14:21572210-21572219
10	TEAD4	chr14:21571107-21573052	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:21570720-21573406	Raji	blood:	n/a	n/a
12	POLR2A	chr14:21570779-21573142	K562	blood:	n/a	n/a
13	HCFC1	chr14:21571052-21573640	Hela-S3	cervix:	n/a	n/a
14	JUND	chr14:21570997-21573590	SK-N-SH	brain:	n/a	chr14:21572209-21572220 chr14:21572211-21572219 chr14:21572209-21572221 chr14:21573119-21573133
15	TBL1XR1	chr14:21571074-21571174	GM12878	blood:	n/a	n/a
16	USF2	chr14:21570901-21572012	Hela-S3	cervix:	n/a	n/a
17	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
ZNF219	TF binding region
ENSG00000179636	Chromatin interaction
ENSG00000258714	Chromatin interaction
ENSG00000258604	Chromatin interaction
ENSG00000255472	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000178107	Chromatin interaction

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

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

rs_ID	r²[population]
rs1057718	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11629332	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12880628	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12884366	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4982406	0.81[ASN][1000 genomes]
rs7149011	0.83[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:117 , 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	chr14:21567800-21571200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:21567800-21571200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:21567800-21571200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:21567800-21571200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:21567800-21571400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:21567800-21571400	Weak transcription	Primary T cells from cord blood	blood
11	chr14:21567800-21571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:21567800-21571400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:21567800-21571400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:21567800-21571400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:21567800-21571400	Enhancers	Esophagus	oesophagus
16	chr14:21567800-21571400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:21567800-21571400	Weak transcription	Left Ventricle	heart
18	chr14:21567800-21571400	Weak transcription	Psoas Muscle	Psoas
19	chr14:21567800-21571400	Weak transcription	Right Ventricle	heart
20	chr14:21567800-21571600	Weak transcription	Aorta	Aorta
21	chr14:21567800-21571600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:21567800-21572000	Weak transcription	Ovary	ovary
23	chr14:21568000-21571200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:21568000-21571200	Weak transcription	Fetal Brain Male	brain
25	chr14:21568000-21571200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:21568000-21571400	Weak transcription	Right Atrium	heart
27	chr14:21568200-21571200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:21568200-21571200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:21568200-21571400	Weak transcription	Fetal Kidney	kidney
30	chr14:21568400-21571200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:21568400-21571200	Weak transcription	Pancreas	Pancrea
32	chr14:21569400-21571800	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:21569600-21571200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:21569600-21571600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr14:21570000-21571200	Enhancers	Thymus	Thymus
36	chr14:21570000-21571400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:21570000-21571400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr14:21570000-21571400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:21570000-21571600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:21570000-21571600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:21570000-21571600	Enhancers	Gastric	stomach
42	chr14:21570000-21571800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr14:21570000-21571800	Flanking Active TSS	Hela-S3	cervix
44	chr14:21570000-21571800	Flanking Active TSS	K562	blood
45	chr14:21570200-21571200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:21570200-21571200	Enhancers	HSMMtube	muscle
47	chr14:21570200-21571400	Enhancers	Fetal Muscle Trunk	muscle
48	chr14:21570200-21571600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:21570200-21571600	Flanking Active TSS	Dnd41	blood
50	chr14:21570200-21571800	Flanking Active TSS	NHEK	skin

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