Variant report

Variant	rs527998033
Chromosome Location	chr14:38063332-38063333
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	REST	chr14:38063314-38065795	HepG2	liver:	n/a	chr14:38064034-38064044 chr14:38065269-38065282
2	POLR2A	chr14:38063256-38065621	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr14:38063258-38064343	MCF-7	breast:	n/a	chr14:38064284-38064293 chr14:38063289-38063303 chr14:38063290-38063304
4	RAD21	chr14:38063223-38063886	A549	lung:	n/a	chr14:38063549-38063568
5	CTCF	chr14:38063282-38063861	HCT-116	colon:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
6	MBD4	chr14:38062469-38066000	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:38063268-38063763	HepG2	liver:	n/a	n/a
8	CTCF	chr14:38063241-38063849	HCT-116	colon:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
9	RAD21	chr14:38063277-38063797	A549	lung:	n/a	chr14:38063549-38063568
10	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:38063093-38065769	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:38063223-38065902	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:38062953-38066652	MCF10A-Er-Src	breast:	n/a	n/a
14	SMC3	chr14:38063244-38063837	SK-N-SH	brain:	n/a	chr14:38063779-38063789
15	JUND	chr14:38062628-38066066	MCF-7	breast:	n/a	chr14:38064795-38064804 chr14:38065116-38065126 chr14:38063103-38063111 chr14:38065214-38065223 chr14:38063106-38063118 chr14:38064080-38064089 chr14:38065116-38065126 chr14:38062672-38062682 chr14:38065212-38065223 chr14:38065116-38065126 chr14:38064791-38064800 chr14:38063103-38063110 chr14:38065396-38065405 chr14:38065116-38065126 chr14:38063967-38063976 chr14:38065213-38065222
16	RFX5	chr14:38063260-38064319	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr14:38063276-38063746	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
18	NR2F2	chr14:38063222-38066101	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr14:38060259-38066080	MCF-7	breast:	n/a	n/a
20	MAX	chr14:38063265-38066034	HepG2	liver:	n/a	chr14:38064741-38064751
21	BHLHE40	chr14:38063317-38063788	K562	blood:	n/a	n/a
22	CTCF	chr14:38062980-38063865	K562	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
23	STAT3	chr14:38063303-38063898	MCF10A-Er-Src	breast:	n/a	n/a
24	MYC	chr14:38063141-38063755	MCF10A-Er-Src	breast:	n/a	n/a
25	EP300	chr14:38063225-38063735	T-47D	breast:	n/a	n/a
26	MYC	chr14:38063297-38063774	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:38063314-38063453	ProgFib	skin:	n/a	n/a
28	RAD21	chr14:38063276-38063916	HCT-116	colon:	n/a	chr14:38063549-38063568
29	RAD21	chr14:38063199-38063957	MCF-7	breast:	n/a	chr14:38063549-38063568
30	ZNF263	chr14:38062768-38066049	HEK293-T-REx	kidney:	n/a	chr14:38065390-38065399 chr14:38064974-38064983
31	TCF7L2	chr14:38063253-38063708	MCF-7	breast:	n/a	n/a
32	GTF2F1	chr14:38063286-38063831	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:38061993-38063784	H1-neurons	neurons:	n/a	n/a
34	GATA3	chr14:38063230-38063716	T-47D	breast:	n/a	n/a
35	MAX	chr14:38063310-38063989	A549	lung:	n/a	n/a
36	MAX	chr14:38063221-38065953	A549	lung:	n/a	chr14:38064741-38064751
37	EP300	chr14:38062686-38065992	MCF-7	breast:	n/a	chr14:38063806-38063822 chr14:38063793-38063809 chr14:38064922-38064938 chr14:38065416-38065429
38	CTCF	chr14:38063299-38063858	HepG2	liver:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
39	POLR2A	chr14:38063297-38066604	HepG2	liver:	n/a	n/a
40	MAX	chr14:38063166-38066136	HepG2	liver:	n/a	chr14:38064741-38064751
41	TBP	chr14:38063304-38063801	HepG2	liver:	n/a	n/a
42	RAD21	chr14:38063286-38064042	HepG2	liver:	n/a	chr14:38063549-38063568
43	MAX	chr14:38063158-38063998	MCF-7	breast:	n/a	n/a
44	TBP	chr14:38063289-38063798	Hela-S3	cervix:	n/a	n/a
45	GATA3	chr14:38062684-38064001	MCF-7	breast:	n/a	chr14:38063101-38063110 chr14:38062965-38062981
46	BRCA1	chr14:38063097-38063799	Hela-S3	cervix:	n/a	n/a
47	SMC3	chr14:38063168-38063785	HepG2	liver:	n/a	n/a
48	RAD21	chr14:38063322-38063765	Hela-S3	cervix:	n/a	chr14:38063549-38063568
49	FOXA2	chr14:38063240-38063648	HepG2	liver:	n/a	n/a
50	CTCF	chr14:38063276-38063951	SK-N-SH	brain:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568

No.	Distal block	Cell Line	Cell type
1	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
2	chr14:38055708..38063394-chr14:38063498..38068319,8	K562	blood:
3	chr14:38061626..38064274-chr8:144362134..144365132,2	MCF-7	breast:
4	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
5	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
6	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
7	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
8	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
9	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
10	chr14:38035549..38036658-chr14:38063068..38063787,3	MCF-7	breast:
11	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
12	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
13	chr14:38061358..38063507-chr3:161089489..161091930,2	MCF-7	breast:
14	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
15	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-3	chr14:38063080-38063818	NONHSAT036465

Variant related genes	Relation type
TTC6	TF binding region
ENSG00000196542	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000259087	Chromatin interaction
ENSG00000112787	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000253716	Chromatin interaction
ENSG00000104731	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000207046	Chromatin interaction
ENSG00000135480	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv901644	chr14:38049107-38064738	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv901645	chr14:38051035-38064215	Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv901647	chr14:38052110-38064738	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv901648	chr14:38052110-38065813	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv901649	chr14:38053334-38065813	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	esv3405207	chr14:38062726-38066074	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
2	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr14:38057000-38065400	Active TSS	Liver	Liver
4	chr14:38059800-38065600	Active TSS	A549	lung
5	chr14:38060400-38064000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr14:38060600-38064000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
7	chr14:38061800-38064600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr14:38062200-38063400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:38062200-38063400	Bivalent/Poised TSS	Fetal Lung	lung
10	chr14:38062200-38063600	Weak transcription	Pancreas	Pancrea
11	chr14:38062400-38063400	Weak transcription	Gastric	stomach
12	chr14:38062400-38063600	Weak transcription	Lung	lung
13	chr14:38062400-38064000	Active TSS	Colonic Mucosa	Colon
14	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
15	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr14:38062800-38063400	Bivalent Enhancer	NHEK	skin
17	chr14:38062800-38063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:38062800-38063600	Bivalent/Poised TSS	Esophagus	oesophagus
19	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
20	chr14:38062800-38065600	Active TSS	K562	blood
21	chr14:38063000-38063400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr14:38063200-38063400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:38063200-38063400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
25	chr14:38063200-38063400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:38063200-38063400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:38063200-38063400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:38063200-38063400	Bivalent Enhancer	Brain Anterior Caudate	brain
29	chr14:38063200-38063400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr14:38063200-38063400	Enhancers	HMEC	breast
31	chr14:38063200-38063600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:38063200-38063600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr14:38063200-38063800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr14:38063200-38063800	Active TSS	Stomach Mucosa	stomach
35	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
36	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
37	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet

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