Variant report

Variant	rs3814514
Chromosome Location	chr9:33510876-33510877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:33510827-33511266	A549	lung:	n/a	n/a
2	HA-E2F1	chr9:33510845-33511311	MCF-7	breast:	n/a	chr9:33510965-33510974
3	TAF1	chr9:33510821-33511023	H1-neurons	neurons:	n/a	n/a
4	REST	chr9:33510832-33511021	PANC-1	pancreas:	n/a	n/a
5	ELF1	chr9:33510830-33511278	GM12878	blood:	n/a	chr9:33511183-33511192 chr9:33511191-33511200
6	MAX	chr9:33510798-33511234	Hela-S3	cervix:	n/a	chr9:33511176-33511185
7	POLR2A	chr9:33510853-33511225	A549	lung:	n/a	n/a
8	POLR2A	chr9:33510828-33511331	K562	blood:	n/a	n/a
9	POLR2A	chr9:33510768-33511374	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:33510837-33511266	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr9:33510737-33511337	PANC-1	pancreas:	n/a	n/a
12	YY1	chr9:33510816-33511263	HCT-116	colon:	n/a	chr9:33511183-33511197 chr9:33511212-33511223 chr9:33511191-33511200
13	TAF1	chr9:33510708-33511328	A549	lung:	n/a	n/a
14	GATA3	chr9:33510722-33511177	A549	lung:	n/a	chr9:33510826-33510837
15	CHD2	chr9:33510789-33511161	Hela-S3	cervix:	n/a	n/a
16	TAF1	chr9:33510766-33511239	SK-N-SH	brain:	n/a	n/a
17	MYC	chr9:33510754-33511336	NB4	blood:	n/a	chr9:33511176-33511185
18	POLR2A	chr9:33510775-33511391	K562	blood:	n/a	n/a
19	YY1	chr9:33510828-33511330	HepG2	liver:	n/a	chr9:33511183-33511197 chr9:33511212-33511223 chr9:33511191-33511200
20	CHD2	chr9:33510872-33511154	H1-hESC	embryonic stem cell:	n/a	n/a
21	UBTF	chr9:33510741-33511330	K562	blood:	n/a	n/a
22	POLR2A	chr9:33510825-33511260	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr9:33510803-33511332	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr9:33510838-33511187	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr9:33510412-33511903	IMR90	lung:	n/a	n/a
26	YY1	chr9:33510782-33511295	A549	lung:	n/a	chr9:33511183-33511197 chr9:33511212-33511223 chr9:33511191-33511200
27	SIN3AK20	chr9:33510748-33511261	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr9:33510617-33511286	U87	brain:	n/a	n/a
29	YY1	chr9:33510787-33511336	SK-N-SH_RA	brain:	n/a	chr9:33511183-33511197 chr9:33511212-33511223 chr9:33511191-33511200
30	POLR2A	chr9:33510839-33511351	ProgFib	skin:	n/a	n/a
31	POLR2A	chr9:33510842-33511244	GM12891	blood:	n/a	n/a
32	REST	chr9:33510727-33511354	A549	lung:	n/a	n/a
33	POLR2A	chr9:33510638-33511432	HUVEC	blood vessel:	n/a	n/a
34	EP300	chr9:33510806-33510954	GM12878	blood:	n/a	n/a
35	YY1	chr9:33510862-33511271	GM12878	blood:	n/a	chr9:33511183-33511197 chr9:33511212-33511223 chr9:33511191-33511200
36	POLR2A	chr9:33510837-33511271	HL-60	blood:	n/a	n/a
37	POLR2A	chr9:33510872-33511145	GM12892	blood:	n/a	n/a
38	PML	chr9:33510785-33511297	GM12878	blood:	n/a	n/a
39	GATA2	chr9:33510859-33511332	SH-SY5Y	brain:	n/a	n/a
40	UBTF	chr9:33510775-33511242	K562	blood:	n/a	n/a
41	POLR2A	chr9:33510761-33511274	K562	blood:	n/a	n/a
42	POLR2A	chr9:33510819-33511356	MCF-7	breast:	n/a	n/a
43	POLR2A	chr9:33510572-33511325	PFSK-1	brain:	n/a	n/a
44	MAZ	chr9:33510844-33511297	K562	blood:	n/a	chr9:33511176-33511185
45	POLR2A	chr9:33510850-33511264	U87	brain:	n/a	n/a
46	MAX	chr9:33510742-33511319	SK-N-SH	brain:	n/a	chr9:33511176-33511185
47	POLR2A	chr9:33510675-33511399	Hela-S3	cervix:	n/a	n/a
48	CHD1	chr9:33510444-33511455	IMR90	lung:	n/a	n/a
49	POLR2A	chr9:33510765-33511388	NB4	blood:	n/a	n/a
50	BRCA1	chr9:33510862-33511278	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:33510859-33510909	ProgFib	skin:	n/a
2	chr9:33510859-33510909	SK-N-MC	brain:	n/a
3	chr9:33510859-33510909	Caco-2	colon:	n/a
4	chr9:33510859-33510909	GM12892	blood:	n/a
5	chr9:33510859-33510909	SKMC	muscle:	n/a
6	chr9:33510859-33510909	AG09319	gingival:	n/a
7	chr9:33510859-33510909	GM19239	blood:	n/a
8	chr9:33510859-33510909	HNPCEpiC	eye:	n/a
9	chr9:33510859-33510909	HRE	kidney:	n/a
10	chr9:33510859-33510909	MCF10A-Er-Src	breast:	n/a
11	chr9:33510859-33510909	NB4	blood:	n/a
12	chr9:33510859-33510909	NHBE	bronchial:	n/a
13	chr9:33510859-33510909	HRPEpiC	eye:	n/a
14	chr9:33510859-33510909	PrEC	prostate:	n/a
15	chr9:33510859-33510909	PANC-1	pancreas:	n/a
16	chr9:33510859-33510909	K562	blood:	n/a
17	chr9:33510859-33510909	BE2_C	brain:	n/a
18	chr9:33510859-33510909	HPAEpiC	pulmonary alveolar:	n/a
19	chr9:33510859-33510909	IMR90	lung:	fetal
20	chr9:33510859-33510909	PFSK-1	brain:	n/a
21	chr9:33510859-33510909	NHDF-neo	bronchial:	n/a
22	chr9:33510859-33510909	HCT-116	colon:	n/a
23	chr9:33510859-33510909	SAEC	small airway:	n/a
24	chr9:33510859-33510909	H1-hESC	embryonic stem cell:	embryo
25	chr9:33510859-33510909	AoSMC	blood vessel:	n/a
26	chr9:33510859-33510909	HEEpiC	esophagus:	n/a
27	chr9:33510859-33510909	HepG2	liver:	n/a
28	chr9:33510859-33510909	HRCEpiC	kidney:	n/a
29	chr9:33510859-33510909	RPTEC	kidney:	n/a
30	chr9:33510859-33510909	GM12891	blood:	n/a
31	chr9:33510859-33510909	SK-N-SH_RA	brain:	n/a
32	chr9:33510859-33510909	ECC-1	luminal epithelium:	n/a
33	chr9:33510859-33510909	HCF	heart:	n/a
34	chr9:33510859-33510909	SK-N-SH	brain:	n/a
35	chr9:33510859-33510909	LNCaP	prostate:	n/a
36	chr9:33510859-33510909	AG10803	skin:	n/a
37	chr9:33510859-33510909	HUVEC	blood vessel:	n/a
38	chr9:33510859-33510909	AG04450	lung:	fetal
39	chr9:33510859-33510909	A549	lung:	n/a
40	chr9:33510859-33510909	NT2-D1	testis:	n/a
41	chr9:33510859-33510909	HMEC	breast:	n/a
42	chr9:33510859-33510909	HCPEpiC	choroid plexus:	n/a
43	chr9:33510859-33510909	HCM	heart:	n/a
44	chr9:33510859-33510909	Hepatocyte	liver:	n/a
45	chr9:33510859-33510909	GM06990	blood:	n/a
46	chr9:33510859-33510909	MCF-7	breast:	n/a
47	chr9:33510859-33510909	HEK293	kidney:	embryo
48	chr9:33510859-33510909	GM12878	blood:	n/a
49	chr9:33510859-33510909	CMK	blood:	n/a
50	chr9:33510859-33510909	HIPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:33508653..33511293-chr9:33522679..33524589,3	MCF-7	breast:
2	chr7:140624233..140624974-chr9:33510596..33511369,2	NB4	blood:
3	chr12:122710012..122710878-chr9:33510743..33511385,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000226823	TF binding region
ENSG00000226823	CpG island
ENSG00000184047	Chromatin interaction
ENSG00000157764	Chromatin interaction
ENSG00000230453	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10465079	0.83[EUR][1000 genomes]
rs10813986	1.00[EUR][1000 genomes]
rs10971528	1.00[EUR][1000 genomes]
rs10971529	1.00[EUR][1000 genomes]
rs10971532	1.00[EUR][1000 genomes]
rs10971533	1.00[EUR][1000 genomes]
rs10971537	1.00[EUR][1000 genomes]
rs10971539	1.00[EUR][1000 genomes]
rs10971542	1.00[EUR][1000 genomes]
rs3739682	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57867764	1.00[ASN][1000 genomes]
rs7027139	1.00[EUR][1000 genomes]
rs7031985	1.00[EUR][1000 genomes]
rs7033723	1.00[EUR][1000 genomes]
rs7038544	1.00[EUR][1000 genomes]
rs7043800	1.00[EUR][1000 genomes]
rs72709635	1.00[ASN][1000 genomes]
rs73482880	1.00[EUR][1000 genomes]
rs7861182	1.00[EUR][1000 genomes]
rs7864131	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv972306	chr9:33486353-33510883	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv427840	chr9:33495185-33989975	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33510200-33511600	Active TSS	Hela-S3	cervix
2	chr9:33510200-33511600	Active TSS	K562	blood
3	chr9:33510200-33511800	Active TSS	Monocytes-CD14+_RO01746	blood
4	chr9:33510200-33512000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:33510400-33511200	Active TSS	Colon Smooth Muscle	Colon
6	chr9:33510400-33511400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr9:33510400-33511400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:33510400-33511400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:33510400-33511400	Active TSS	Fetal Kidney	kidney
10	chr9:33510400-33511400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr9:33510400-33511400	Active TSS	Fetal Stomach	stomach
12	chr9:33510400-33511400	Active TSS	Right Atrium	heart
13	chr9:33510400-33511600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:33510400-33511600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:33510400-33511600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:33510400-33511600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr9:33510400-33511600	Active TSS	NH-A	brain
18	chr9:33510400-33511600	Active TSS	Osteobl	bone
19	chr9:33510400-33511800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:33510400-33511800	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr9:33510400-33511800	Active TSS	Fetal Lung	lung
22	chr9:33510600-33511000	Active TSS	HMEC	breast
23	chr9:33510600-33511200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:33510600-33511200	Active TSS	Fetal Heart	heart
25	chr9:33510600-33511400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr9:33510600-33511400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr9:33510600-33511400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:33510600-33511400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:33510600-33511400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr9:33510600-33511400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr9:33510600-33511400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr9:33510600-33511400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr9:33510600-33511400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr9:33510600-33511400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:33510600-33511400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr9:33510600-33511400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
37	chr9:33510600-33511400	Active TSS	Primary T cells from cord blood	blood
38	chr9:33510600-33511400	Active TSS	Primary hematopoietic stem cells	blood
39	chr9:33510600-33511400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:33510600-33511400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr9:33510600-33511400	Active TSS	Adipose Nuclei	Adipose
42	chr9:33510600-33511400	Active TSS	Brain Anterior Caudate	brain
43	chr9:33510600-33511400	Active TSS	Brain Germinal Matrix	brain
44	chr9:33510600-33511400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:33510600-33511400	Active TSS	Brain Substantia Nigra	brain
46	chr9:33510600-33511400	Active TSS	Duodenum Mucosa	Duodenum
47	chr9:33510600-33511400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr9:33510600-33511400	Active TSS	Fetal Brain Female	brain
49	chr9:33510600-33511400	Active TSS	Fetal Intestine Large	intestine
50	chr9:33510600-33511400	Active TSS	Fetal Muscle Trunk	muscle

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