Variant report

Variant	rs200108101
Chromosome Location	chr14:38063531-38063532
allele	-/GAA
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	POLR2A	chr14:38063500-38065371	ProgFib	skin:	n/a	n/a
2	CTCF	chr14:38063420-38063570	GM12875	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
3	CTCF	chr14:38063500-38063650	AoAF	blood vessel:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
4	CTCF	chr14:38063476-38063620	GM19238	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
5	CTCF	chr14:38063460-38063610	HMF	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
6	CTCF	chr14:38063440-38063590	WI-38	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
7	REST	chr14:38063314-38065795	HepG2	liver:	n/a	chr14:38064034-38064044 chr14:38065269-38065282
8	POLR2A	chr14:38063256-38065621	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr14:38063428-38063692	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
10	CTCF	chr14:38063500-38063650	HepG2	liver:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
11	HDAC2	chr14:38063258-38064343	MCF-7	breast:	n/a	chr14:38064284-38064293 chr14:38063289-38063303 chr14:38063290-38063304
12	ELK1	chr14:38063413-38063794	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr14:38063500-38063650	GM12864	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
14	RAD21	chr14:38063223-38063886	A549	lung:	n/a	chr14:38063549-38063568
15	CTCF	chr14:38063282-38063861	HCT-116	colon:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
16	MBD4	chr14:38062469-38066000	HepG2	liver:	n/a	n/a
17	CTCF	chr14:38063500-38063650	HAc	cerebellar:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
18	POLR2A	chr14:38063268-38063763	HepG2	liver:	n/a	n/a
19	ZNF143	chr14:38063373-38064237	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr14:38063241-38063849	HCT-116	colon:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
21	RAD21	chr14:38063277-38063797	A549	lung:	n/a	chr14:38063549-38063568
22	TBP	chr14:38063413-38063866	K562	blood:	n/a	n/a
23	CTCF	chr14:38063460-38063610	HCT-116	colon:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
24	CTCF	chr14:38063480-38063630	K562	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
25	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
26	CTCF	chr14:38063460-38063610	GM12866	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
27	MAFK	chr14:38063412-38063668	HepG2	liver:	n/a	chr14:38063579-38063594
28	MAX	chr14:38063378-38063761	K562	blood:	n/a	n/a
29	CTCF	chr14:38063460-38063610	HFF	foreskin:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
30	POLR2A	chr14:38063093-38065769	Hela-S3	cervix:	n/a	n/a
31	RFX5	chr14:38063390-38065891	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr14:38063403-38063953	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:38063223-38065902	HepG2	liver:	n/a	n/a
34	CTCF	chr14:38063460-38063610	HA-sp	spinal cord:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
35	POLR2A	chr14:38062953-38066652	MCF10A-Er-Src	breast:	n/a	n/a
36	RCOR1	chr14:38063413-38063735	K562	blood:	n/a	n/a
37	MAX	chr14:38063338-38065476	Hela-S3	cervix:	n/a	chr14:38064741-38064751
38	CTCF	chr14:38063480-38063630	HPF	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
39	CTCF	chr14:38063447-38063684	HepG2	liver:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
40	CTCF	chr14:38063520-38063670	GM12878	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
41	RCOR1	chr14:38063421-38066027	HepG2	liver:	n/a	n/a
42	SMC3	chr14:38063244-38063837	SK-N-SH	brain:	n/a	chr14:38063779-38063789
43	RAD21	chr14:38063456-38063628	GM12878	blood:	n/a	chr14:38063549-38063568
44	HA-E2F1	chr14:38063407-38065989	MCF-7	breast:	n/a	chr14:38065392-38065404 chr14:38065519-38065531 chr14:38065518-38065533 chr14:38064782-38064792
45	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
46	RFX5	chr14:38063260-38064319	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr14:38063336-38063836	ECC-1	luminal epithelium:	n/a	chr14:38063549-38063568
48	CTCF	chr14:38063460-38063610	GM12872	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
49	CTCF	chr14:38063276-38063746	A549	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
50	MAX	chr14:38063378-38064012	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
2	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
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	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
14	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
15	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:
16	chr14:37641087..37642667-chr14:38063502..38066629,3	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
FOXA1	TF binding region
ENSG00000253716	Chromatin interaction
ENSG00000111679	Chromatin interaction
ENSG00000207046	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000135480	Chromatin interaction
ENSG00000258708	Chromatin interaction
ENSG00000112787	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000183032	Chromatin interaction
ENSG00000141279	Chromatin interaction
ENSG00000259087	Chromatin interaction
ENSG00000104731	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:85 , 50 per page) page: 1 2

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	chr14:38062200-38063600	Weak transcription	Pancreas	Pancrea
9	chr14:38062400-38063600	Weak transcription	Lung	lung
10	chr14:38062400-38064000	Active TSS	Colonic Mucosa	Colon
11	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
12	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr14:38062800-38063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:38062800-38063600	Bivalent/Poised TSS	Esophagus	oesophagus
15	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
16	chr14:38062800-38065600	Active TSS	K562	blood
17	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr14:38063200-38063600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:38063200-38063600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
20	chr14:38063200-38063800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr14:38063200-38063800	Active TSS	Stomach Mucosa	stomach
22	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
23	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
24	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr14:38063400-38063600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr14:38063400-38063600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:38063400-38063600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr14:38063400-38063600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
31	chr14:38063400-38063600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:38063400-38063600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr14:38063400-38063600	Bivalent/Poised TSS	Aorta	Aorta
36	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
37	chr14:38063400-38063600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:38063400-38063600	Bivalent Enhancer	Brain Substantia Nigra	brain
39	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
40	chr14:38063400-38063600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr14:38063400-38063600	Bivalent Enhancer	Fetal Brain Female	brain
42	chr14:38063400-38063600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr14:38063400-38063600	Bivalent Enhancer	Placenta	Placenta
44	chr14:38063400-38063600	Bivalent Enhancer	Psoas Muscle	Psoas
45	chr14:38063400-38063600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr14:38063400-38063600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr14:38063400-38063600	Flanking Active TSS	HMEC	breast
49	chr14:38063400-38063600	Bivalent/Poised TSS	HSMM	muscle
50	chr14:38063400-38063600	Bivalent/Poised TSS	NH-A	brain

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