Variant report

Variant	rs74047231
Chromosome Location	chr14:37638266-37638267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:37638108-37638285	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:37637863-37638454	K562	blood:	n/a	n/a
3	CEBPD	chr14:37637861-37638375	K562	blood:	n/a	n/a
4	CEBPD	chr14:37637817-37638422	K562	blood:	n/a	n/a
5	POLR2A	chr14:37637878-37638315	K562	blood:	n/a	n/a
6	MAFF	chr14:37637910-37638297	K562	blood:	n/a	n/a
7	ATF1	chr14:37637957-37638275	K562	blood:	n/a	n/a
8	POLR2A	chr14:37637818-37638355	K562	blood:	n/a	n/a
9	STAT5A	chr14:37637932-37638276	K562	blood:	n/a	n/a
10	GATA2	chr14:37637887-37638422	K562	blood:	n/a	n/a
11	TEAD4	chr14:37637829-37638384	K562	blood:	n/a	n/a
12	HCFC1	chr14:37637944-37638398	K562	blood:	n/a	n/a
13	STAT5A	chr14:37637825-37638393	K562	blood:	n/a	n/a
14	CCNT2	chr14:37637920-37638412	K562	blood:	n/a	n/a
15	EP300	chr14:37637864-37638499	K562	blood:	n/a	n/a
16	MAX	chr14:37637903-37638356	K562	blood:	n/a	n/a
17	PML	chr14:37637866-37638396	K562	blood:	n/a	n/a
18	ZMIZ1	chr14:37637878-37638301	K562	blood:	n/a	n/a
19	POLR2A	chr14:37637927-37638407	H1-hESC	embryonic stem cell:	n/a	n/a
20	REST	chr14:37637931-37638318	K562	blood:	n/a	n/a
21	ARID3A	chr14:37637980-37638323	K562	blood:	n/a	n/a
22	GATA2	chr14:37637900-37638364	K562	blood:	n/a	n/a
23	CBX3	chr14:37637860-37638321	K562	blood:	n/a	n/a
24	POLR2A	chr14:37637865-37638389	K562	blood:	n/a	n/a
25	TBL1XR1	chr14:37637954-37638661	K562	blood:	n/a	n/a
26	GATA1	chr14:37637969-37638288	PBDEFetal	blood:	n/a	n/a
27	NR2F2	chr14:37637925-37638500	K562	blood:	n/a	n/a
28	ETS1	chr14:37637925-37638267	K562	blood:	n/a	n/a
29	MAFK	chr14:37637944-37638389	K562	blood:	n/a	n/a
30	POLR2A	chr14:37638156-37638347	H1-hESC	embryonic stem cell:	n/a	n/a
31	NR2F2	chr14:37637850-37638336	K562	blood:	n/a	n/a
32	GATA2	chr14:37637926-37638333	K562	blood:	n/a	n/a
33	MAX	chr14:37637938-37638507	K562	blood:	n/a	n/a
34	MAZ	chr14:37637873-37638904	K562	blood:	n/a	n/a
35	ZNF263	chr14:37637809-37638575	HEK293-T-REx	kidney:	n/a	n/a
36	ZNF143	chr14:37637900-37638411	K562	blood:	n/a	n/a
37	PML	chr14:37637820-37638316	K562	blood:	n/a	n/a
38	POLR2A	chr14:37636880-37638654	PBDE	blood:	n/a	n/a
39	GATA1	chr14:37637603-37639005	PBDE	blood:	n/a	chr14:37638606-37638616
40	RCOR1	chr14:37637837-37638422	K562	blood:	n/a	n/a
41	JUND	chr14:37637892-37638430	K562	blood:	n/a	n/a
42	POLR2A	chr14:37637908-37638511	K562	blood:	n/a	n/a
43	HMGN3	chr14:37638016-37638280	K562	blood:	n/a	n/a
44	CEBPB	chr14:37637944-37638270	K562	blood:	n/a	n/a
45	MYC	chr14:37637866-37638848	K562	blood:	n/a	n/a
46	BHLHE40	chr14:37637932-37638567	K562	blood:	n/a	n/a
47	CTCF	chr14:37637938-37638390	K562	blood:	n/a	n/a
48	MYC	chr14:37637961-37638320	K562	blood:	n/a	n/a
49	UBTF	chr14:37637938-37638378	K562	blood:	n/a	n/a
50	HEY1	chr14:37637890-37638416	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37439762..37441841-chr14:37637700..37639770,2	K562	blood:
2	chr14:37131202..37132825-chr14:37638068..37640984,2	K562	blood:
3	chr14:37619150..37623313-chr14:37636849..37639143,3	K562	blood:
4	chr14:37638241..37643981-chr14:37665773..37670423,8	MCF-7	breast:
5	chr14:37636501..37638947-chr14:37664211..37667966,4	K562	blood:

No data

Variant related genes	Relation type
SLC25A21-AS1	TF binding region
ENSG00000198807	Chromatin interaction
ENSG00000151338	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10130470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130932	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139772	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28844922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148785	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74047232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74047236	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1050174	chr14:37556357-37664143	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1043410	chr14:37556357-37671059	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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
5	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv901635	chr14:37623177-37782273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3528451	chr14:37631483-37771365	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3527359	chr14:37631504-37771435	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3370191	chr14:37631508-37771354	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv3527360	chr14:37631521-37771311	Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3528462	chr14:37631535-37771345	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv3528473	chr14:37631543-37771255	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3527361	chr14:37631554-37771408	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv3528484	chr14:37631599-37771228	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3527363	chr14:37631608-37771230	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3310838	chr14:37636091-37639750	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3310839	chr14:37636091-37639750	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37636000-37638600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:37636400-37638600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:37636400-37638600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:37636400-37638800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:37636400-37638800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr14:37636800-37639000	Flanking Active TSS	K562	blood
7	chr14:37637600-37638400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:37637600-37638600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:37637600-37638600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:37637600-37639000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:37637800-37638400	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:37638000-37638600	Enhancers	Pancreas	Pancrea
13	chr14:37638000-37638800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:37638000-37639000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:37638200-37638400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:37638200-37638400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:37638200-37638600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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