Variant report

Variant	rs113048394
Chromosome Location	chr15:52311700-52311701
allele	C/T
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	chr15:52311094-52312216	GM10847	blood:	n/a	n/a
2	POLR2A	chr15:52310865-52311810	U87	brain:	n/a	n/a
3	POLR2A	chr15:52310923-52311766	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:52310967-52312494	HUVEC	blood vessel:	n/a	n/a
5	YY1	chr15:52311176-52311870	GM12878	blood:	n/a	chr15:52311282-52311296 chr15:52311344-52311353 chr15:52311281-52311295 chr15:52311484-52311495 chr15:52311405-52311414
6	POLR2A	chr15:52310872-52311769	Hela-S3	cervix:	n/a	n/a
7	YY1	chr15:52310997-52311707	H1-hESC	embryonic stem cell:	n/a	chr15:52311282-52311296 chr15:52311344-52311353 chr15:52311281-52311295 chr15:52311484-52311495 chr15:52311405-52311414
8	POLR2A	chr15:52311643-52311770	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr15:52311212-52311789	ECC-1	luminal epithelium:	n/a	chr15:52311282-52311296 chr15:52311344-52311353 chr15:52311281-52311295 chr15:52311484-52311495 chr15:52311405-52311414
10	REST	chr15:52311049-52311775	PFSK-1	brain:	n/a	n/a
11	CREB1	chr15:52311034-52311788	GM12878	blood:	n/a	n/a
12	TBP	chr15:52311076-52312864	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:52310700-52313695	GM12878	blood:	n/a	n/a
14	GTF3C2	chr15:52311157-52312306	K562	blood:	n/a	n/a
15	E2F1	chr15:52311053-52312253	Hela-S3	cervix:	n/a	chr15:52311347-52311359 chr15:52311405-52311414 chr15:52311704-52311714 chr15:52311918-52311928 chr15:52311906-52311915 chr15:52311459-52311467 chr15:52312011-52312021 chr15:52311347-52311358
16	POLR2A	chr15:52311051-52312114	HCT-116	colon:	n/a	n/a
17	POLR2A	chr15:52310849-52312297	Raji	blood:	n/a	n/a
18	SIN3AK20	chr15:52311061-52312341	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr15:52310853-52312523	K562	blood:	n/a	n/a
20	POLR2A	chr15:52311072-52311757	ECC-1	luminal epithelium:	n/a	n/a
21	REST	chr15:52310736-52312948	H1-neurons	neurons:	n/a	chr15:52311953-52311966
22	TAF1	chr15:52310910-52311797	MCF-7	breast:	n/a	n/a
23	REST	chr15:52311006-52311796	HL-60	blood:	n/a	n/a
24	POLR2A	chr15:52310863-52311717	K562	blood:	n/a	n/a
25	POLR2A	chr15:52311046-52311797	SK-N-SH	brain:	n/a	n/a
26	TAF1	chr15:52311126-52311826	GM12878	blood:	n/a	n/a
27	BCLAF1	chr15:52310997-52311760	GM12878	blood:	n/a	chr15:52311281-52311294 chr15:52311277-52311286 chr15:52311340-52311353 chr15:52311702-52311715 chr15:52311283-52311296
28	POLR2A	chr15:52310883-52311797	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr15:52310834-52312878	GM12878	blood:	n/a	n/a
30	ETS1	chr15:52311039-52311750	K562	blood:	n/a	chr15:52311405-52311416
31	POLR2A	chr15:52311063-52312254	A549	lung:	n/a	n/a
32	ZBTB7A	chr15:52311624-52312213	K562	blood:	n/a	n/a
33	SP1	chr15:52310883-52311772	A549	lung:	n/a	chr15:52311385-52311395 chr15:52311385-52311395 chr15:52311404-52311414 chr15:52311404-52311413 chr15:52311404-52311414 chr15:52311340-52311352 chr15:52311403-52311415 chr15:52311410-52311424 chr15:52311405-52311414 chr15:52311404-52311418 chr15:52311346-52311357 chr15:52311404-52311413 chr15:52311403-52311415 chr15:52311347-52311356
34	HDAC2	chr15:52311649-52312322	HepG2	liver:	n/a	n/a
35	MYC	chr15:52311090-52312295	MCF10A-Er-Src	breast:	n/a	chr15:52311406-52311416 chr15:52311341-52311351
36	GATA3	chr15:52310883-52312485	MCF-7	breast:	n/a	chr15:52312122-52312129
37	MXI1	chr15:52310700-52314090	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr15:52310959-52311723	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr15:52310908-52311783	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr15:52310992-52312477	K562	blood:	n/a	n/a
41	TAF1	chr15:52311035-52311809	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr15:52310902-52312332	HL-60	blood:	n/a	n/a
43	E2F6	chr15:52311550-52312220	K562	blood:	n/a	chr15:52311704-52311714 chr15:52311918-52311928 chr15:52311906-52311915 chr15:52312011-52312021
44	YY1	chr15:52311211-52311838	SK-N-SH	brain:	n/a	chr15:52311282-52311296 chr15:52311344-52311353 chr15:52311281-52311295 chr15:52311484-52311495 chr15:52311405-52311414
45	POLR2A	chr15:52310793-52312427	ProgFib	skin:	n/a	n/a
46	JUND	chr15:52311651-52312305	A549	lung:	n/a	n/a
47	POLR2A	chr15:52310960-52313667	U87	brain:	n/a	n/a
48	YY1	chr15:52311027-52311790	GM12892	blood:	n/a	chr15:52311282-52311296 chr15:52311344-52311353 chr15:52311281-52311295 chr15:52311484-52311495 chr15:52311405-52311414
49	POLR2A	chr15:52310936-52312320	A549	lung:	n/a	n/a
50	MAX	chr15:52310663-52312582	MCF-7	breast:	n/a	chr15:52311406-52311416 chr15:52311341-52311351

No.	Distal block	Cell Line	Cell type
1	chr15:52311192..52314853-chr15:52323962..52330649,8	K562	blood:
2	chr14:75745847..75746397-chr15:52311405..52311940,2	Hela-S3	cervix:
3	chr15:52310998..52312915-chr15:52428801..52431088,2	MCF-7	breast:
4	chr15:52175882..52177402-chr15:52311052..52312787,2	K562	blood:
5	chr15:52309643..52312109-chr15:52424380..52429568,4	MCF-7	breast:
6	chr15:52310228..52314421-chr15:52470196..52474583,10	MCF-7	breast:
7	chr15:52309956..52312123-chr15:52404856..52406463,2	MCF-7	breast:
8	chr15:52029435..52031649-chr15:52311154..52313570,2	K562	blood:
9	chr15:52310337..52312699-chr15:76160460..76162429,2	MCF-7	breast:
10	chr15:52259207..52267788-chr15:52308373..52314434,24	MCF-7	breast:
11	chr15:52310908..52311894-chr6:26158225..26159035,2	Hela-S3	cervix:
12	chr1:186344295..186345189-chr15:52311029..52311907,2	Hela-S3	cervix:
13	chr15:50646379..50648105-chr15:52310964..52313763,2	MCF-7	breast:
14	chr15:52308069..52314807-chr15:52359242..52376066,34	MCF-7	breast:
15	chr15:52262145..52266701-chr15:52309209..52314377,19	MCF-7	breast:
16	chr1:153642946..153643631-chr15:52311398..52311917,2	Hela-S3	cervix:
17	chr1:149857624..149859887-chr15:52308865..52312483,3	MCF-7	breast:
18	chr15:51913842..51915651-chr15:52310480..52312908,3	MCF-7	breast:
19	chr15:52311672..52313200-chr15:52431736..52434238,2	MCF-7	breast:
20	chr15:52311066..52311781-chr16:28564992..28565495,2	MCF-7	breast:
21	chr15:52262263..52265564-chr15:52309489..52315686,9	K562	blood:
22	chr15:52309759..52313480-chr15:52429073..52432426,3	K562	blood:
23	chr15:52311231..52311963-chr2:198317889..198318505,2	Hela-S3	cervix:
24	chr1:150551175..150551879-chr15:52310855..52311822,2	Hela-S3	cervix:
25	chr15:52262270..52265607-chr15:52309730..52314612,10	K562	blood:
26	chr15:52311211..52313546-chr15:52470591..52472771,2	MCF-7	breast:
27	chr13:113861573..113863819-chr15:52310834..52313167,2	MCF-7	breast:
28	chr15:52311260..52311978-chr17:4851077..4851818,2	Hela-S3	cervix:
29	chr12:76953528..76954278-chr15:52311179..52311706,2	Hela-S3	cervix:
30	chr15:52295927..52297599-chr15:52311444..52313673,3	MCF-7	breast:
31	chr15:52309194..52314432-chr15:52385325..52393461,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	TF binding region
MAPK6	TF binding region
ENSG00000104064	Chromatin interaction
ENSG00000157181	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000140280	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000091039	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000108515	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000207484	Chromatin interaction
ENSG00000176476	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000126226	Chromatin interaction
ENSG00000143621	Chromatin interaction
ENSG00000259178	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000139842	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000259709	Chromatin interaction
ENSG00000047410	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000242327	Chromatin interaction
ENSG00000259712	Chromatin interaction
ENSG00000259398	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000259577	Chromatin interaction
ENSG00000115520	Chromatin interaction
ENSG00000069966	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000137875	Chromatin interaction
ENSG00000170345	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1536	chr15:52276293-52320919	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv3330502	chr15:52310485-52313033	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52310600-52313200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr15:52310600-52313800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:52310600-52313800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr15:52310600-52313800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:52310800-52312800	Active TSS	Fetal Kidney	kidney
6	chr15:52310800-52312800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:52310800-52313000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:52310800-52313000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:52310800-52313000	Active TSS	Liver	Liver
10	chr15:52310800-52313000	Active TSS	Brain Angular Gyrus	brain
11	chr15:52310800-52313000	Active TSS	Brain Hippocampus Middle	brain
12	chr15:52310800-52313400	Active TSS	Aorta	Aorta
13	chr15:52310800-52313600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr15:52310800-52313800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr15:52310800-52313800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:52310800-52314200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:52310800-52314800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:52310800-52314800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:52311000-52312000	Active TSS	Primary hematopoietic stem cells	blood
20	chr15:52311000-52312200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr15:52311000-52312600	Active TSS	Gastric	stomach
22	chr15:52311000-52312800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:52311000-52312800	Active TSS	Ovary	ovary
24	chr15:52311000-52312800	Active TSS	Small Intestine	intestine
25	chr15:52311000-52313000	Active TSS	Placenta Amnion	Placenta Amnion
26	chr15:52311000-52313600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr15:52311000-52313600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:52311200-52312000	Active TSS	Primary B cells from cord blood	blood
29	chr15:52311200-52312000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:52311200-52312000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:52311200-52312000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:52311200-52312000	Active TSS	Brain Germinal Matrix	brain
33	chr15:52311200-52312200	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr15:52311200-52312200	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr15:52311200-52312200	Active TSS	Primary B cells from peripheral blood	blood
36	chr15:52311200-52312200	Active TSS	Primary T cells from cord blood	blood
37	chr15:52311200-52312200	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr15:52311200-52312200	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr15:52311200-52312200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:52311200-52312200	Active TSS	Adipose Nuclei	Adipose
41	chr15:52311200-52312200	Weak transcription	Fetal Heart	heart
42	chr15:52311200-52312200	Active TSS	Thymus	Thymus
43	chr15:52311200-52312200	Active TSS	HepG2	liver
44	chr15:52311200-52312400	Active TSS	Primary T cells fromperipheralblood	blood
45	chr15:52311200-52312400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:52311200-52312400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr15:52311200-52312400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr15:52311200-52312400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:52311200-52312400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr15:52311200-52312400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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