Variant report

Variant	esv16513
Chromosome Location	chr1:247270328-247275269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:281)
CpG islands
(count:305)
Chromatin interactive
region (count:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:247273976-247274367	K562	blood:	n/a	n/a
2	ATF1	chr1:247273899-247274258	K562	blood:	n/a	n/a
3	BACH1	chr1:247274741-247274742	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:247275257-247275476	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:247274377-247274386	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr1:247273936-247274355	K562	blood:	n/a	n/a
7	BHLHE40	chr1:247274816-247275552	K562	blood:	n/a	n/a
8	BHLHE40	chr1:247273922-247274377	K562	blood:	n/a	n/a
9	BHLHE40	chr1:247274839-247275896	HepG2	liver:	n/a	chr1:247275614-247275630
10	BRCA1	chr1:247275122-247275252	HepG2	liver:	n/a	n/a
11	CBX3	chr1:247274963-247275912	K562	blood:	n/a	n/a
12	CBX3	chr1:247273762-247274572	K562	blood:	n/a	n/a
13	CBX3	chr1:247273868-247274371	K562	blood:	n/a	n/a
14	CCNT2	chr1:247273918-247275918	K562	blood:	n/a	n/a
15	CEBPB	chr1:247274003-247274263	K562	blood:	n/a	n/a
16	CEBPB	chr1:247273913-247274328	K562	blood:	n/a	n/a
17	CEBPD	chr1:247275082-247275591	K562	blood:	n/a	n/a
18	CEBPD	chr1:247273827-247274410	K562	blood:	n/a	n/a
19	CEBPD	chr1:247274982-247275541	HepG2	liver:	n/a	n/a
20	CEBPD	chr1:247273816-247274408	K562	blood:	n/a	n/a
21	CHD1	chr1:247274697-247274777	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr1:247274012-247274212	K562	blood:	n/a	n/a
23	CHD2	chr1:247275082-247275678	HepG2	liver:	n/a	n/a
24	CHD2	chr1:247275222-247275495	K562	blood:	n/a	n/a
25	CHD2	chr1:247274611-247274669	K562	blood:	n/a	n/a
26	CTCF	chr1:247274980-247275130	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr1:247274980-247275130	AG04449	skin:	n/a	n/a
28	CUX1	chr1:247273995-247274540	K562	blood:	n/a	n/a
29	E2F6	chr1:247273891-247274152	K562	blood:	n/a	n/a
30	E2F6	chr1:247275037-247275388	K562	blood:	n/a	n/a
31	E2F6	chr1:247275000-247275587	A549	lung:	n/a	chr1:247275577-247275587
32	E2F6	chr1:247274556-247274925	K562	blood:	n/a	n/a
33	E2F6	chr1:247274949-247275662	A549	lung:	n/a	chr1:247275577-247275587
34	E2F6	chr1:247273922-247275849	K562	blood:	n/a	chr1:247275577-247275587 chr1:247275750-247275759
35	E2F6	chr1:247274248-247275874	K562	blood:	n/a	chr1:247275577-247275587 chr1:247275750-247275759
36	E2F6	chr1:247273892-247274249	K562	blood:	n/a	n/a
37	EGR1	chr1:247274491-247274902	K562	blood:	n/a	n/a
38	EGR1	chr1:247273883-247274346	K562	blood:	n/a	n/a
39	EGR1	chr1:247274423-247274837	K562	blood:	n/a	n/a
40	EGR1	chr1:247275016-247275344	K562	blood:	n/a	n/a
41	EGR1	chr1:247273902-247274307	K562	blood:	n/a	n/a
42	ELF1	chr1:247274859-247275826	K562	blood:	n/a	chr1:247275228-247275241
43	ELF1	chr1:247274961-247275465	HepG2	liver:	n/a	chr1:247275228-247275241
44	ELF1	chr1:247274419-247274846	K562	blood:	n/a	n/a
45	ELF1	chr1:247275180-247275430	A549	lung:	n/a	chr1:247275228-247275241
46	ELF1	chr1:247274853-247275676	K562	blood:	n/a	chr1:247275228-247275241
47	ELF1	chr1:247275071-247275572	MCF-7	breast:	n/a	chr1:247275228-247275241
48	ELF1	chr1:247275023-247275424	HepG2	liver:	n/a	chr1:247275228-247275241
49	ELF1	chr1:247274979-247275729	MCF-7	breast:	n/a	chr1:247275228-247275241
50	ELK1	chr1:247274234-247274255	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247271246-247271296	HCF	heart:	n/a
2	chr1:247274454-247274504	Caco-2	colon:	n/a
3	chr1:247271246-247271296	Caco-2	colon:	n/a
4	chr1:247274709-247274759	PrEC	prostate:	n/a
5	chr1:247274370-247274420	PFSK-1	brain:	n/a
6	chr1:247271246-247271296	IMR90	lung:	fetal
7	chr1:247274777-247274827	HIPEpiC	eye:	n/a
8	chr1:247274454-247274504	SAEC	small airway:	n/a
9	chr1:247274370-247274420	U87	brain:	n/a
10	chr1:247271246-247271296	SK-N-SH	brain:	n/a
11	chr1:247274454-247274504	SK-N-SH_RA	brain:	n/a
12	chr1:247271246-247271296	GM12892	blood:	n/a
13	chr1:247274454-247274504	BE2_C	brain:	n/a
14	chr1:247274709-247274759	LNCaP	prostate:	n/a
15	chr1:247274709-247274759	RPTEC	kidney:	n/a
16	chr1:247274777-247274827	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:247271246-247271296	NB4	blood:	n/a
18	chr1:247274709-247274759	HCPEpiC	choroid plexus:	n/a
19	chr1:247274777-247274827	Hela-S3	cervix:	n/a
20	chr1:247274709-247274759	HUVEC	blood vessel:	n/a
21	chr1:247271246-247271296	HL-60	blood:	n/a
22	chr1:247271246-247271296	NHDF-neo	bronchial:	n/a
23	chr1:247274709-247274759	ProgFib	skin:	n/a
24	chr1:247274454-247274504	AoSMC	blood vessel:	n/a
25	chr1:247271246-247271296	U87	brain:	n/a
26	chr1:247271246-247271296	SAEC	small airway:	n/a
27	chr1:247274370-247274420	NT2-D1	testis:	n/a
28	chr1:247274709-247274759	SK-N-SH	brain:	n/a
29	chr1:247274777-247274827	BJ	skin:	n/a
30	chr1:247274777-247274827	GM19239	blood:	n/a
31	chr1:247274777-247274827	PANC-1	pancreas:	n/a
32	chr1:247274777-247274827	HL-60	blood:	n/a
33	chr1:247274454-247274504	NB4	blood:	n/a
34	chr1:247274777-247274827	BE2_C	brain:	n/a
35	chr1:247274454-247274504	HMEC	breast:	n/a
36	chr1:247274370-247274420	NHBE	bronchial:	n/a
37	chr1:247274370-247274420	HepG2	liver:	n/a
38	chr1:247271246-247271296	HAEpiC	amniotic membrane:	n/a
39	chr1:247274709-247274759	SK-N-SH_RA	brain:	n/a
40	chr1:247274709-247274759	T-47D	breast:	n/a
41	chr1:247271246-247271296	HEEpiC	esophagus:	n/a
42	chr1:247274709-247274759	A549	lung:	n/a
43	chr1:247274454-247274504	Hepatocyte	liver:	n/a
44	chr1:247274709-247274759	IMR90	lung:	fetal
45	chr1:247274454-247274504	RPTEC	kidney:	n/a
46	chr1:247274454-247274504	NHDF-neo	bronchial:	n/a
47	chr1:247274454-247274504	AG09319	gingival:	n/a
48	chr1:247274370-247274420	HEK293	kidney:	embryo
49	chr1:247274370-247274420	Caco-2	colon:	n/a
50	chr1:247274454-247274504	HRE	kidney:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
2	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
3	chr1:247241483..247244418-chr1:247273727..247276454,2	MCF-7	breast:
4	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
5	chr1:247274493..247276812-chr1:247371838..247375899,3	K562	blood:
6	chr1:247240305..247243596-chr1:247273338..247276480,4	K562	blood:
7	chr1:247236707..247239427-chr1:247272612..247275121,2	K562	blood:
8	chr1:247270781..247273183-chr1:247283776..247285390,2	MCF-7	breast:
9	chr1:247265005..247267763-chr1:247269479..247271293,2	MCF-7	breast:
10	chr1:247140883..247143696-chr1:247267943..247270450,3	MCF-7	breast:
11	chr1:247093523..247095310-chr1:247269545..247271288,2	MCF-7	breast:
12	chr1:247256992..247261249-chr1:247272069..247275489,5	K562	blood:
13	chr1:247262370..247270931-chr1:247272613..247278774,19	MCF-7	breast:
14	chr1:247271757..247273641-chr1:247273728..247275536,3	MCF-7	breast:
15	chr1:247271757..247273641-chr1:247273728..247275536,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf229-1	chr1:247271325-247272007	NONHSAT010751
2	lnc-C1orf229-1	chr1:247272989-247273290	NONHSAT010751

No data

Variant related genes	Relation type
ZNF669	TF binding region
ZNF669	CpG island
ENSG00000135747	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000221953	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000227671	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369499581	chr1:247270392-247270393	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs148601589	chr1:247270394-247270395	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536700225	chr1:247270492-247270493	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs556558902	chr1:247270493-247270494	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs74152925	chr1:247270519-247270520	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536175447	chr1:247270525-247270526	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567009089	chr1:247270561-247270562	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555782456	chr1:247270618-247270619	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs527890941	chr1:247270619-247270620	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574401090	chr1:247270672-247270673	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs75933545	chr1:247270675-247270676	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs553492528	chr1:247270769-247270770	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs114691719	chr1:247270783-247270784	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs578160824	chr1:247270839-247270840	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs143485973	chr1:247270853-247270854	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs563705151	chr1:247270881-247270882	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs146754878	chr1:247270896-247270897	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183497706	chr1:247270910-247270911	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs10924918	chr1:247270914-247270915	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs140361939	chr1:247270929-247270930	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs551163955	chr1:247270935-247270936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564709050	chr1:247271042-247271043	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530555710	chr1:247271079-247271080	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75137694	chr1:247271088-247271089	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77469813	chr1:247271108-247271109	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535862140	chr1:247271113-247271114	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113907709	chr1:247271176-247271177	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566248808	chr1:247271193-247271194	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535309396	chr1:247271198-247271199	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs7553714	chr1:247271241-247271242	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556583874	chr1:247271246-247271247	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs578205182	chr1:247271278-247271279	Weak transcription	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs10158165	chr1:247271322-247271323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557169687	chr1:247271374-247271375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs73135906	chr1:247271405-247271406	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188200275	chr1:247271408-247271409	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs114141468	chr1:247271441-247271442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs111668770	chr1:247271472-247271473	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs544867993	chr1:247271476-247271477	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs564767830	chr1:247271579-247271580	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs530616865	chr1:247271583-247271584	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191871272	chr1:247271590-247271591	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs150419725	chr1:247271691-247271692	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs6689221	chr1:247271693-247271694	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7519178	chr1:247271696-247271697	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs34256812	chr1:247271740-247271741	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs142341287	chr1:247271754-247271755	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138760331	chr1:247271780-247271781	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs1605	chr1:247271788-247271789	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs545865674	chr1:247271807-247271808	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247268000-247273800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:247268400-247273800	Weak transcription	Fetal Stomach	stomach
3	chr1:247268400-247274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:247268400-247274000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:247268400-247274000	Weak transcription	Fetal Brain Female	brain
6	chr1:247268400-247275600	Weak transcription	Fetal Heart	heart
7	chr1:247268600-247273400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:247268600-247273800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:247268600-247273800	Weak transcription	Fetal Lung	lung
10	chr1:247268600-247274000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:247268600-247274000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:247268600-247274000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:247268600-247274000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:247268600-247274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:247268600-247274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:247268600-247274000	Weak transcription	Right Atrium	heart
17	chr1:247268600-247274000	Weak transcription	NH-A	brain
18	chr1:247268600-247274000	Weak transcription	NHDF-Ad	bronchial
19	chr1:247268600-247274200	Weak transcription	Right Ventricle	heart
20	chr1:247268800-247273800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:247268800-247273800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:247268800-247273800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:247268800-247274000	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:247268800-247274000	Weak transcription	Colonic Mucosa	Colon
25	chr1:247268800-247274000	Weak transcription	Ovary	ovary
26	chr1:247268800-247274000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:247268800-247274000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:247268800-247274000	Weak transcription	HepG2	liver
29	chr1:247268800-247274000	Weak transcription	Osteobl	bone
30	chr1:247269000-247274000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:247270200-247270400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:247270200-247273600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:247271000-247271200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:247271200-247274000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:247271400-247272800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:247271400-247274000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:247272200-247274000	Weak transcription	Brain Substantia Nigra	brain
38	chr1:247272800-247273000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:247273000-247274000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:247273000-247274000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:247273400-247273800	Enhancers	K562	blood
42	chr1:247273400-247274000	Enhancers	Fetal Muscle Leg	muscle
43	chr1:247273600-247274000	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:247273800-247274000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr1:247273800-247274000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr1:247273800-247274000	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:247273800-247274000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr1:247273800-247274000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:247273800-247274000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr1:247273800-247274000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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