Variant report

Variant	rs576169642
Chromosome Location	chr14:37132026-37132027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr14:37130484-37132555	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:37131950-37132143	MCF-7	breast:	n/a	n/a
3	MYC	chr14:37131963-37132333	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:37131702-37132774	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:37131920-37132070	MCF-7	breast:	n/a	n/a
6	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr14:37132012-37132876	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr14:37131956-37132223	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:37130786-37132365	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr14:37130724-37132399	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
11	HMGN3	chr14:37131867-37132626	K562	blood:	n/a	n/a
12	GATA3	chr14:37131991-37132435	T-47D	breast:	n/a	n/a
13	POLR2A	chr14:37131800-37132773	MCF-7	breast:	n/a	n/a
14	MAX	chr14:37130611-37132437	MCF-7	breast:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
15	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
16	E2F6	chr14:37131576-37132151	A549	lung:	n/a	n/a
17	CTCF	chr14:37132022-37132109	A549	lung:	n/a	n/a
18	MYC	chr14:37131934-37132585	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:37130800-37132493	MCF10A-Er-Src	breast:	n/a	n/a
20	SUZ12	chr14:37131084-37133709	H1-hESC	embryonic stem cell:	n/a	n/a
21	HA-E2F1	chr14:37130625-37132391	MCF-7	breast:	n/a	chr14:37131381-37131395 chr14:37131305-37131314
22	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
23	GATA3	chr14:37131980-37132420	T-47D	breast:	n/a	n/a
24	FOXA1	chr14:37131983-37132325	T-47D	breast:	n/a	n/a
25	CTCF	chr14:37131965-37132202	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:37132000-37132150	AG04449	skin:	n/a	n/a
27	MYC	chr14:37132021-37132316	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr14:37130796-37132318	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
29	CTCF	chr14:37131994-37132128	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:37131947-37132280	MCF-7	breast:	n/a	n/a
31	POLR2A	chr14:37131867-37132789	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37131998-37132048	HCM	heart:	n/a
2	chr14:37131998-37132048	HMEC	breast:	n/a
3	chr14:37131998-37132048	HRPEpiC	eye:	n/a
4	chr14:37131998-37132048	HAEpiC	amniotic membrane:	n/a
5	chr14:37131998-37132048	AG09309	skin:	n/a
6	chr14:37131998-37132048	NHBE	bronchial:	n/a
7	chr14:37131998-37132048	AG09319	gingival:	n/a
8	chr14:37131998-37132048	HCPEpiC	choroid plexus:	n/a
9	chr14:37131998-37132048	SK-N-MC	brain:	n/a
10	chr14:37131998-37132048	RPTEC	kidney:	n/a
11	chr14:37131998-37132048	GM12892	blood:	n/a
12	chr14:37131998-37132048	NT2-D1	testis:	n/a
13	chr14:37131998-37132048	AoSMC	blood vessel:	n/a
14	chr14:37131998-37132048	H1-hESC	embryonic stem cell:	embryo
15	chr14:37131998-37132048	U87	brain:	n/a
16	chr14:37131998-37132048	SKMC	muscle:	n/a
17	chr14:37131998-37132048	BJ	skin:	n/a
18	chr14:37131998-37132048	Hela-S3	cervix:	n/a
19	chr14:37131998-37132048	HCT-116	colon:	n/a
20	chr14:37131998-37132048	HPAEpiC	pulmonary alveolar:	n/a
21	chr14:37131998-37132048	CMK	blood:	n/a
22	chr14:37131998-37132048	ovcar-3	ovarian:	n/a
23	chr14:37131998-37132048	Jurkat	blood:	n/a
24	chr14:37131998-37132048	Hepatocyte	liver:	n/a
25	chr14:37131998-37132048	GM12891	blood:	n/a
26	chr14:37131998-37132048	HEK293	kidney:	embryo
27	chr14:37131998-37132048	PrEC	prostate:	n/a
28	chr14:37131998-37132048	ProgFib	skin:	n/a
29	chr14:37131998-37132048	SAEC	small airway:	n/a
30	chr14:37131998-37132048	HIPEpiC	eye:	n/a
31	chr14:37131998-37132048	HCF	heart:	n/a
32	chr14:37131998-37132048	HL-60	blood:	n/a
33	chr14:37131998-37132048	K562	blood:	n/a
34	chr14:37131998-37132048	GM12878	blood:	n/a
35	chr14:37131998-37132048	NB4	blood:	n/a
36	chr14:37131998-37132048	LNCaP	prostate:	n/a
37	chr14:37131998-37132048	AG10803	skin:	n/a
38	chr14:37131998-37132048	HRCEpiC	kidney:	n/a
39	chr14:37131998-37132048	A549	lung:	n/a
40	chr14:37131998-37132048	BE2_C	brain:	n/a
41	chr14:37131998-37132048	SK-N-SH	brain:	n/a
42	chr14:37131998-37132048	PFSK-1	brain:	n/a
43	chr14:37131998-37132048	HUVEC	blood vessel:	n/a
44	chr14:37131998-37132048	NH-A	brain:	n/a
45	chr14:37131998-37132048	HepG2	liver:	n/a
46	chr14:37131998-37132048	NHDF-neo	bronchial:	n/a
47	chr14:37131998-37132048	SK-N-SH_RA	brain:	n/a
48	chr14:37131998-37132048	HNPCEpiC	eye:	n/a
49	chr14:37131998-37132048	IMR90	lung:	fetal
50	chr14:37131998-37132048	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr14:37131975..37134895-chr14:37181236..37183653,2	MCF-7	breast:
2	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
3	chr11:62554763..62556323-chr14:37131201..37132788,2	MCF-7	breast:
4	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
5	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258661	TF binding region
PAX9	TF binding region
ENSG00000258661	CpG island
PAX9	CpG island
ENSG00000258661	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv819585	chr14:37130627-37138654	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv498084	chr14:37131404-37141112	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
2	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
3	chr14:37130400-37132400	Active TSS	A549	lung
4	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
6	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
8	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:37130600-37132400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
11	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
13	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
14	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
20	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr14:37130800-37132200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr14:37130800-37132200	Bivalent/Poised TSS	Aorta	Aorta
23	chr14:37130800-37132600	Active TSS	NHDF-Ad	bronchial
24	chr14:37130800-37133200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:37130800-37133200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr14:37130800-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr14:37131000-37132800	Bivalent Enhancer	Fetal Brain Male	brain
28	chr14:37131000-37133200	Bivalent Enhancer	Spleen	Spleen
29	chr14:37131000-37133400	Bivalent/Poised TSS	HSMM	muscle
30	chr14:37131000-37135600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
32	chr14:37131200-37132200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr14:37131200-37132400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr14:37131200-37132600	Bivalent Enhancer	Small Intestine	intestine
35	chr14:37131200-37132600	Bivalent/Poised TSS	NH-A	brain
36	chr14:37131200-37133200	Bivalent Enhancer	Left Ventricle	heart
37	chr14:37131200-37133400	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr14:37131200-37133600	Bivalent Enhancer	Fetal Lung	lung
39	chr14:37131200-37134000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr14:37131400-37132400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr14:37131400-37132400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:37131400-37132400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr14:37131400-37132600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:37131400-37132600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:37131400-37132800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr14:37131400-37132800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr14:37131400-37132800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
48	chr14:37131400-37133000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
49	chr14:37131400-37133200	Bivalent Enhancer	Placenta	Placenta
50	chr14:37131400-37133400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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