Variant report

Variant	rs1404
Chromosome Location	chr14:37641878-37641879
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	EP300	chr14:37640997-37642125	HepG2	liver:	n/a	chr14:37641259-37641268 chr14:37641458-37641474 chr14:37641256-37641265
2	GTF2B	chr14:37641128-37642050	K562	blood:	n/a	n/a
3	CEBPD	chr14:37641079-37642196	K562	blood:	n/a	n/a
4	HEY1	chr14:37641066-37642067	K562	blood:	n/a	n/a
5	MAX	chr14:37640879-37642534	HepG2	liver:	n/a	chr14:37641432-37641439 chr14:37641872-37641881
6	CHD2	chr14:37641062-37642005	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr14:37640965-37642280	HEK293	kidney:	n/a	n/a
8	CHD2	chr14:37641066-37642018	K562	blood:	n/a	n/a
9	ELF1	chr14:37641021-37642098	MCF-7	breast:	n/a	n/a
10	CEBPB	chr14:37640928-37642018	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr14:37641695-37642066	K562	blood:	n/a	n/a
12	MAX	chr14:37640949-37642195	HepG2	liver:	n/a	chr14:37641432-37641439 chr14:37641872-37641881
13	POLR2A	chr14:37641012-37642114	Hela-S3	cervix:	n/a	n/a
14	REST	chr14:37641017-37641879	A549	lung:	n/a	chr14:37641192-37641205 chr14:37641607-37641620
15	EP300	chr14:37640915-37642771	K562	blood:	n/a	chr14:37642594-37642608 chr14:37641259-37641268 chr14:37640931-37640939 chr14:37641458-37641474 chr14:37641256-37641265
16	JUND	chr14:37640898-37642095	K562	blood:	n/a	n/a
17	TCF7L2	chr14:37641082-37642111	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:37640979-37641907	HUVEC	blood vessel:	n/a	n/a
19	HEY1	chr14:37641110-37642122	K562	blood:	n/a	n/a
20	PML	chr14:37641067-37642090	K562	blood:	n/a	n/a
21	ZBTB7A	chr14:37641723-37641889	K562	blood:	n/a	n/a
22	GATA2	chr14:37641672-37642034	K562	blood:	n/a	n/a
23	TAF7	chr14:37641034-37641891	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3A	chr14:37640969-37642055	H1-hESC	embryonic stem cell:	n/a	chr14:37641463-37641474
25	YY1	chr14:37641053-37641948	A549	lung:	n/a	chr14:37641463-37641474
26	POLR2A	chr14:37641018-37642060	K562	blood:	n/a	n/a
27	HCFC1	chr14:37641077-37642122	K562	blood:	n/a	n/a
28	TAF1	chr14:37640976-37641915	ECC-1	luminal epithelium:	n/a	n/a
29	SMC3	chr14:37641105-37641938	Hela-S3	cervix:	n/a	n/a
30	IRF1	chr14:37640880-37642888	K562	blood:	n/a	chr14:37642526-37642539
31	POLR2A	chr14:37641024-37642158	K562	blood:	n/a	n/a
32	CTCF	chr14:37641840-37641990	AG04449	skin:	n/a	n/a
33	UBTF	chr14:37640977-37642539	K562	blood:	n/a	n/a
34	JUND	chr14:37641129-37641906	A549	lung:	n/a	n/a
35	POLR2A	chr14:37641090-37641937	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr14:37641293-37642042	K562	blood:	n/a	n/a
37	MAX	chr14:37641142-37642047	K562	blood:	n/a	chr14:37641432-37641439 chr14:37641872-37641881
38	TAF1	chr14:37641047-37641907	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:37640930-37642211	H1-hESC	embryonic stem cell:	n/a	n/a
40	NANOG	chr14:37641495-37641893	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr14:37641065-37642112	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:37641004-37642143	HepG2	liver:	n/a	n/a
43	IRF1	chr14:37641064-37643007	K562	blood:	n/a	chr14:37642526-37642539
44	HDAC2	chr14:37641049-37642040	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:37641104-37641882	HUVEC	blood vessel:	n/a	n/a
46	ATF2	chr14:37641468-37642010	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr14:37641034-37642053	MCF-7	breast:	n/a	n/a
48	MAX	chr14:37641118-37642011	HepG2	liver:	n/a	chr14:37641432-37641439 chr14:37641872-37641881
49	POLR2A	chr14:37641056-37641963	ProgFib	skin:	n/a	n/a
50	POLR2A	chr14:37640823-37642489	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37051690..37053277-chr14:37640298..37642030,2	K562	blood:
2	chr14:37638241..37643981-chr14:37665773..37670423,8	MCF-7	breast:
3	chr14:37640543..37642943-chr20:48598351..48600093,2	MCF-7	breast:
4	chr14:37129932..37131787-chr14:37640970..37642806,2	MCF-7	breast:
5	chr14:37639617..37644848-chr14:37662875..37669924,15	K562	blood:
6	chr14:37639697..37645467-chr14:37664720..37672395,14	K562	blood:
7	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:
8	chr14:37639061..37645694-chr14:37661777..37669317,18	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIPOL1-5	chr14:37641231-37642998	NR_033240

Variant related genes	Relation type
SLC25A21	TF binding region
ENSG00000124216	Chromatin interaction
ENSG00000198807	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000136327	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000151338	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1012198	1.00[EUR][1000 genomes]
rs10134406	1.00[EUR][1000 genomes]
rs10141752	0.83[EUR][1000 genomes]
rs10220604	0.83[EUR][1000 genomes]
rs1057564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846299	0.87[AFR][1000 genomes]
rs11846576	0.84[AFR][1000 genomes]
rs17106209	0.83[EUR][1000 genomes]
rs17106216	0.83[EUR][1000 genomes]
rs17106493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17178484	0.91[EUR][1000 genomes]
rs17178639	0.95[EUR][1000 genomes]
rs17178764	0.95[EUR][1000 genomes]
rs17767749	0.82[EUR][1000 genomes]
rs17767929	0.95[EUR][1000 genomes]
rs1950372	0.95[EUR][1000 genomes]
rs1950814	0.83[EUR][1000 genomes]
rs1955758	0.95[EUR][1000 genomes]
rs2038309	1.00[EUR][1000 genomes]
rs2144318	0.83[EUR][1000 genomes]
rs2415373	0.82[EUR][1000 genomes]
rs2415379	0.83[EUR][1000 genomes]
rs2415380	0.83[EUR][1000 genomes]
rs2415386	0.95[EUR][1000 genomes]
rs4356385	0.83[EUR][1000 genomes]
rs56666059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57054655	0.84[AFR][1000 genomes]
rs57167835	0.87[AFR][1000 genomes]
rs57235322	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57900485	0.90[AFR][1000 genomes]
rs59542560	0.87[AFR][1000 genomes]
rs59544181	0.84[AFR][1000 genomes]
rs6571781	0.91[EUR][1000 genomes]
rs6571783	0.95[EUR][1000 genomes]
rs6571785	1.00[EUR][1000 genomes]
rs6571786	1.00[EUR][1000 genomes]
rs6571787	1.00[EUR][1000 genomes]
rs6571788	1.00[EUR][1000 genomes]
rs7142723	0.95[EUR][1000 genomes]
rs7151524	0.87[EUR][1000 genomes]
rs7159967	0.95[EUR][1000 genomes]
rs725243	0.95[EUR][1000 genomes]
rs8009630	0.95[EUR][1000 genomes]
rs8012664	1.00[EUR][1000 genomes]
rs8014610	0.95[EUR][1000 genomes]
rs8019489	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37639000-37643400	Active TSS	K562	blood
2	chr14:37639200-37642400	Active TSS	Duodenum Mucosa	Duodenum
3	chr14:37640400-37642000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:37640400-37642000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:37640400-37642000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:37640600-37642600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:37640800-37642000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:37640800-37642000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:37640800-37642000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:37640800-37642000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr14:37640800-37642000	Active TSS	Fetal Kidney	kidney
12	chr14:37640800-37642000	Active TSS	Hela-S3	cervix
13	chr14:37640800-37642000	Active TSS	NHEK	skin
14	chr14:37640800-37642000	Active TSS	NHLF	lung
15	chr14:37640800-37642200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:37640800-37642200	Active TSS	Brain Angular Gyrus	brain
17	chr14:37640800-37642200	Active TSS	Brain Cingulate Gyrus	brain
18	chr14:37640800-37642200	Active TSS	Brain Hippocampus Middle	brain
19	chr14:37640800-37642200	Active TSS	Brain Substantia Nigra	brain
20	chr14:37640800-37642200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:37640800-37642400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr14:37640800-37642400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:37640800-37642400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:37640800-37642400	Active TSS	Fetal Stomach	stomach
25	chr14:37640800-37642400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr14:37640800-37642400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr14:37640800-37642400	Active TSS	Stomach Smooth Muscle	stomach
28	chr14:37640800-37642600	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr14:37640800-37642600	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr14:37640800-37642600	Active TSS	A549	lung
31	chr14:37640800-37642800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:37640800-37643000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:37641000-37642000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:37641000-37642000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:37641000-37642000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr14:37641000-37642000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr14:37641000-37642000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr14:37641000-37642000	Active TSS	Adipose Nuclei	Adipose
39	chr14:37641000-37642000	Active TSS	Liver	Liver
40	chr14:37641000-37642000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:37641000-37642000	Active TSS	Colon Smooth Muscle	Colon
42	chr14:37641000-37642000	Active TSS	Fetal Lung	lung
43	chr14:37641000-37642000	Active TSS	NH-A	brain
44	chr14:37641000-37642200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:37641000-37642200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:37641000-37642200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:37641000-37642200	Active TSS	Colonic Mucosa	Colon
48	chr14:37641000-37642200	Active TSS	Fetal Intestine Large	intestine
49	chr14:37641000-37642200	Active TSS	Fetal Intestine Small	intestine
50	chr14:37641000-37642200	Active TSS	Left Ventricle	heart

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