Variant report

Variant	rs118008920
Chromosome Location	chr14:35450086-35450087
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	POLR2A	chr14:35449987-35452510	HepG2	liver:	n/a	n/a
2	MAFF	chr14:35449897-35450833	HepG2	liver:	n/a	chr14:35450167-35450185
3	FOXA2	chr14:35450004-35450820	HepG2	liver:	n/a	chr14:35450466-35450478
4	RFX5	chr14:35450058-35450284	HepG2	liver:	n/a	n/a
5	EP300	chr14:35450030-35450808	K562	blood:	n/a	n/a
6	MAFK	chr14:35449878-35450357	IMR90	lung:	n/a	chr14:35450168-35450183
7	KAP1	chr14:35449869-35452510	HEK293	kidney:	n/a	n/a
8	CEBPB	chr14:35450038-35450400	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:35449933-35452777	HepG2	liver:	n/a	n/a
10	FOXA1	chr14:35450055-35450788	HepG2	liver:	n/a	chr14:35450466-35450478
11	KAP1	chr14:35449989-35450704	U2OS	brain:	n/a	n/a
12	SIN3AK20	chr14:35450013-35450993	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:35450030-35452656	HepG2	liver:	n/a	n/a
14	REST	chr14:35449921-35451016	HepG2	liver:	n/a	n/a
15	YY1	chr14:35450031-35450516	HepG2	liver:	n/a	n/a
16	RXRA	chr14:35449949-35450828	HepG2	liver:	n/a	n/a
17	MAFK	chr14:35449893-35450948	HepG2	liver:	n/a	chr14:35450168-35450183
18	GTF2F1	chr14:35450085-35451116	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr14:35449795-35452720	IMR90	lung:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
20	SIN3AK20	chr14:35449975-35452799	MCF-7	breast:	n/a	n/a
21	TCF12	chr14:35449937-35452667	A549	lung:	n/a	n/a
22	MAX	chr14:35449917-35452682	A549	lung:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
23	MBD4	chr14:35449651-35453338	HepG2	liver:	n/a	n/a
24	MAX	chr14:35449789-35453237	HepG2	liver:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
25	POLR2A	chr14:35450058-35453345	HepG2	liver:	n/a	n/a
26	MYBL2	chr14:35449780-35453391	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:35450083-35450803	HepG2	liver:	n/a	n/a
28	CEBPD	chr14:35449998-35450839	HepG2	liver:	n/a	n/a
29	RCOR1	chr14:35449971-35450200	HepG2	liver:	n/a	n/a
30	MBD4	chr14:35449705-35452854	HepG2	liver:	n/a	n/a
31	TEAD4	chr14:35449669-35453202	HepG2	liver:	n/a	n/a
32	EP300	chr14:35449935-35452574	HepG2	liver:	n/a	n/a
33	ARID3A	chr14:35449799-35452898	HepG2	liver:	n/a	chr14:35452584-35452600
34	FOXA1	chr14:35449991-35450867	HepG2	liver:	n/a	chr14:35450466-35450478
35	NFIC	chr14:35449742-35452575	HepG2	liver:	n/a	n/a
36	HDAC2	chr14:35449893-35452822	HepG2	liver:	n/a	n/a
37	MXI1	chr14:35450055-35452668	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr14:35450002-35450382	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr14:35450004-35450765	HepG2	liver:	n/a	n/a
40	MXI1	chr14:35450018-35450826	HepG2	liver:	n/a	n/a
41	ZNF263	chr14:35450032-35452713	HEK293-T-REx	kidney:	n/a	chr14:35450871-35450880
42	CREB1	chr14:35449967-35452755	HepG2	liver:	n/a	n/a
43	MXI1	chr14:35449648-35453116	SK-N-SH	brain:	n/a	n/a
44	MAX	chr14:35450085-35450436	K562	blood:	n/a	n/a
45	RFX5	chr14:35450012-35452403	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr14:35450086-35450285	A549	lung:	n/a	n/a
47	MYBL2	chr14:35449836-35453399	HepG2	liver:	n/a	n/a
48	HA-E2F1	chr14:35449996-35450724	MCF-7	breast:	n/a	n/a
49	FOXA1	chr14:35450028-35450823	HepG2	liver:	n/a	chr14:35450466-35450478
50	HNF4G	chr14:35449948-35450880	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35449513..35454029-chr14:35868261..35874094,7	MCF-7	breast:
2	chr14:35449656..35453109-chr14:35514529..35517063,4	MCF-7	breast:
3	chr14:35023701..35025768-chr14:35449276..35451419,2	K562	blood:
4	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
5	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
6	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
7	chr14:35450019..35452754-chr14:35591061..35594828,4	K562	blood:
8	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
9	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAZ1A-1	chr14:35449441-35452103	NONHSAT036355

Variant related genes	Relation type
SRP54	TF binding region
ENSG00000092020	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000206588	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000100906	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking 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	55 gene(s)	inside rSNPs	diseases
3	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv901604	chr14:35381137-35485748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1035925	chr14:35404661-35483420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
16	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
4	chr14:35425800-35450600	Weak transcription	Ovary	ovary
5	chr14:35426000-35450200	Weak transcription	Aorta	Aorta
6	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:35426000-35450800	Weak transcription	Gastric	stomach
8	chr14:35430000-35450200	Weak transcription	Stomach Mucosa	stomach
9	chr14:35449600-35450200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr14:35449600-35450200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:35449600-35450200	Enhancers	Placenta	Placenta
12	chr14:35449600-35450200	Enhancers	Right Atrium	heart
13	chr14:35449600-35450200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:35449600-35450200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr14:35449600-35450400	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:35449600-35450400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:35449600-35450400	Enhancers	Fetal Heart	heart
18	chr14:35449600-35452800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:35449600-35453000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr14:35449800-35450200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:35449800-35450200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:35449800-35450200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr14:35449800-35450200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:35449800-35450200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:35449800-35450200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:35449800-35450200	Enhancers	Fetal Lung	lung
27	chr14:35449800-35450200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr14:35449800-35450400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:35449800-35450400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:35449800-35450400	Active TSS	Duodenum Mucosa	Duodenum
31	chr14:35449800-35450400	Enhancers	Fetal Brain Male	brain
32	chr14:35449800-35451000	Flanking Active TSS	Dnd41	blood
33	chr14:35449800-35452800	Active TSS	Hela-S3	cervix
34	chr14:35449800-35453000	Active TSS	NHEK	skin
35	chr14:35449800-35453000	Active TSS	Osteobl	bone
36	chr14:35449800-35453200	Active TSS	NHDF-Ad	bronchial
37	chr14:35449800-35453400	Active TSS	GM12878-XiMat	blood
38	chr14:35449800-35453600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:35449800-35453600	Active TSS	NHLF	lung
40	chr14:35449800-35455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:35450000-35450200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr14:35450000-35450200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:35450000-35450200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:35450000-35450200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:35450000-35450200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:35450000-35450200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:35450000-35450200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:35450000-35450200	Flanking Active TSS	Liver	Liver
49	chr14:35450000-35450200	Enhancers	Brain Hippocampus Middle	brain
50	chr14:35450000-35450200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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