Variant report

Variant	rs192669931
Chromosome Location	chr14:37642415-37642416
allele	C/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	MAX	chr14:37640879-37642534	HepG2	liver:	n/a	chr14:37641432-37641439 chr14:37641872-37641881
2	EP300	chr14:37640915-37642771	K562	blood:	n/a	chr14:37642594-37642608 chr14:37641259-37641268 chr14:37640931-37640939 chr14:37641458-37641474 chr14:37641256-37641265
3	IRF1	chr14:37640880-37642888	K562	blood:	n/a	chr14:37642526-37642539
4	CEBPB	chr14:37642353-37642804	K562	blood:	n/a	chr14:37642596-37642607 chr14:37642597-37642608 chr14:37642596-37642609
5	CEBPB	chr14:37642323-37643171	K562	blood:	n/a	chr14:37642596-37642607 chr14:37642597-37642608 chr14:37642596-37642609
6	UBTF	chr14:37640977-37642539	K562	blood:	n/a	n/a
7	IRF1	chr14:37641064-37643007	K562	blood:	n/a	chr14:37642526-37642539
8	MXI1	chr14:37642236-37642481	K562	blood:	n/a	n/a
9	POLR2A	chr14:37640823-37642489	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr14:37642313-37642806	K562	blood:	n/a	chr14:37642654-37642666 chr14:37642459-37642468
11	POLR2A	chr14:37640670-37642807	MCF10A-Er-Src	breast:	n/a	n/a
12	TEAD4	chr14:37640846-37642487	HepG2	liver:	n/a	n/a
13	TEAD4	chr14:37642396-37642813	K562	blood:	n/a	n/a
14	POLR2A	chr14:37640966-37642838	PBDE	blood:	n/a	n/a
15	POLR2A	chr14:37641043-37642416	K562	blood:	n/a	n/a
16	GATA1	chr14:37640728-37643358	PBDE	blood:	n/a	n/a
17	TAL1	chr14:37641020-37642777	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37559384..37561307-chr14:37642361..37644125,2	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
ENSG00000151338	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000198807	Chromatin interaction
ENSG00000139865	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	esv3367731	chr14:37642250-37668518	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37639000-37643400	Active TSS	K562	blood
2	chr14:37640600-37642600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:37640800-37642600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:37640800-37642600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr14:37640800-37642600	Active TSS	A549	lung
6	chr14:37640800-37642800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:37640800-37643000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:37641000-37642600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:37641000-37642800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:37641800-37642600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:37641800-37642600	Flanking Active TSS	HUVEC	blood vessel
12	chr14:37641800-37644200	Active TSS	Right Atrium	heart
13	chr14:37642000-37642600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:37642000-37642600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr14:37642000-37642600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr14:37642000-37642600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:37642000-37642600	Flanking Active TSS	NHEK	skin
18	chr14:37642000-37642800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr14:37642200-37642600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:37642200-37642600	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr14:37642200-37642600	Enhancers	Stomach Mucosa	stomach
22	chr14:37642200-37642600	Flanking Active TSS	HMEC	breast
23	chr14:37642200-37642800	Enhancers	Brain Angular Gyrus	brain
24	chr14:37642400-37642600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:37642400-37642600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr14:37642400-37642600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:37642400-37642600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:37642400-37642600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:37642400-37642600	Enhancers	Adipose Nuclei	Adipose
30	chr14:37642400-37642600	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:37642400-37642600	Enhancers	Brain Substantia Nigra	brain
32	chr14:37642400-37642600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr14:37642400-37642600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr14:37642400-37642600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr14:37642400-37642600	Flanking Active TSS	HepG2	liver
36	chr14:37642400-37642800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:37642400-37642800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:37642400-37642800	Enhancers	Colon Smooth Muscle	Colon
39	chr14:37642400-37642800	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:37642400-37642800	Enhancers	Fetal Kidney	kidney
41	chr14:37642400-37643000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:37642400-37643000	Enhancers	Liver	Liver
43	chr14:37642400-37643000	Enhancers	Brain Anterior Caudate	brain
44	chr14:37642400-37643000	Enhancers	Brain Hippocampus Middle	brain
45	chr14:37642400-37643000	Enhancers	Fetal Lung	lung
46	chr14:37642400-37643200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr14:37642400-37643800	Enhancers	Fetal Heart	heart
48	chr14:37642400-37644800	Weak transcription	Pancreas	Pancrea
49	chr14:37642400-37644800	Weak transcription	Psoas Muscle	Psoas
50	chr14:37642400-37645600	Weak transcription	Fetal Intestine Small	intestine

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