Variant report

Variant	esv3411733
Chromosome Location	chr1:228461611-228461790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:228461662-228461730	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:228461675-228461703	LNCaP	prostate:	n/a	n/a
3	CTCF	chr1:228461631-228461770	GM12891	blood:	n/a	n/a
4	CTCF	chr1:228461480-228461630	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:228461626-228461767	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr1:228461580-228461730	HEK293	kidney:	n/a	n/a
7	CTCF	chr1:228461660-228461810	NB4	blood:	n/a	n/a
8	CTCF	chr1:228461660-228461810	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr1:228461520-228461670	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr1:228461520-228461670	HepG2	liver:	n/a	n/a
11	CTCF	chr1:228461622-228461764	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:228461375-228461910	K562	blood:	n/a	n/a
13	CTCF	chr1:228461602-228461617	GM12891	blood:	n/a	n/a
14	CTCF	chr1:228461445-228461752	K562	blood:	n/a	n/a
15	CTCF	chr1:228461600-228461750	A549	lung:	n/a	n/a
16	CTCF	chr1:228461620-228461770	NHEK	skin:	n/a	n/a
17	CTCF	chr1:228461600-228461750	HRE	kidney:	n/a	n/a
18	CTCF	chr1:228461621-228461628	GM12891	blood:	n/a	n/a
19	CTCF	chr1:228461500-228461650	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr1:228461680-228461830	AG09309	skin:	n/a	n/a
21	CTCF	chr1:228461545-228461833	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr1:228461613-228461787	MCF-7	breast:	n/a	n/a
23	CTCF	chr1:228461620-228461770	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr1:228461686-228461749	K562	blood:	n/a	n/a
25	CTCF	chr1:228461600-228461767	Gliobla	brain:	n/a	n/a
26	CTCF	chr1:228461580-228461730	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr1:228461509-228461747	K562	blood:	n/a	n/a
28	CTCF	chr1:228461637-228461743	GM19238	blood:	n/a	n/a
29	CTCF	chr1:228461500-228461650	HCT-116	colon:	n/a	n/a
30	CTCF	chr1:228461600-228461750	BE2_C	brain:	n/a	n/a
31	CTCF	chr1:228461620-228461770	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr1:228461640-228461790	K562	blood:	n/a	n/a
33	CTCF	chr1:228461660-228461810	HMEC	breast:	n/a	n/a
34	CTCF	chr1:228461643-228461744	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:228461616-228461787	NHEK	skin:	n/a	n/a
36	CTCF	chr1:228461493-228461799	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:228461580-228461730	HMF	breast:	n/a	n/a
38	CTCF	chr1:228461440-228461690	GM12867	blood:	n/a	n/a
39	CTCF	chr1:228461720-228461870	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr1:228461600-228461750	HEK293	kidney:	n/a	n/a
41	CTCF	chr1:228461624-228461748	A549	lung:	n/a	n/a
42	CTCF	chr1:228461560-228461710	HPF	lung:	n/a	n/a
43	CTCFL	chr1:228461591-228461726	K562	blood:	n/a	n/a
44	POLR2A	chr1:228461625-228461692	K562	blood:	n/a	n/a
45	POLR2A	chr1:228461426-228461680	K562	blood:	n/a	n/a
46	POLR2A	chr1:228461751-228461769	K562	blood:	n/a	n/a
47	POLR2A	chr1:228461721-228461726	K562	blood:	n/a	n/a
48	RAD21	chr1:228461545-228461745	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZMIZ1	chr1:228461659-228461661	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228401876..228404808-chr1:228460949..228463356,3	K562	blood:
2	chr1:228458711..228461742-chr1:228563280..228565996,3	MCF-7	breast:
3	chr1:228395695..228398626-chr1:228460759..228464017,3	K562	blood:
4	chr1:228459242..228461758-chr1:228551926..228553931,2	MCF-7	breast:
5	chr1:228399534..228402324-chr1:228461653..228463776,2	MCF-7	breast:
6	chr1:228458946..228461751-chr1:228646279..228648631,2	K562	blood:

No data

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000162913	chromatin interactions
ENSG00000154358	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114195142	chr1:228461611-228461612	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs28603121	chr1:228461615-228461616	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138055037	chr1:228461655-228461656	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs191666937	chr1:228461668-228461669	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376020724	chr1:228461673-228461674	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs370325845	chr1:228461674-228461675	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374335072	chr1:228461691-228461692	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs377742814	chr1:228461692-228461693	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs371762688	chr1:228461741-228461742	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs474735	chr1:228461757-228461758	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375844454	chr1:228461765-228461766	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs555685325	chr1:228461768-228461769	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228434800-228462400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:228435200-228462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:228435600-228462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:228443600-228462800	Weak transcription	Fetal Kidney	kidney
5	chr1:228444800-228462800	Weak transcription	Fetal Thymus	thymus
6	chr1:228445000-228462200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:228445000-228462400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:228445000-228462800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:228445000-228463200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:228447600-228463000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:228447800-228462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:228447800-228463000	Weak transcription	Psoas Muscle	Psoas
13	chr1:228449000-228462600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:228449200-228462800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:228449800-228462600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:228450000-228462800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:228450000-228462800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:228450000-228463000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:228450200-228462000	Weak transcription	Fetal Lung	lung
20	chr1:228452400-228463000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:228453400-228462600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:228453600-228462400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:228453600-228462800	Weak transcription	Colonic Mucosa	Colon
24	chr1:228454200-228462400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:228454200-228462600	Weak transcription	Adipose Nuclei	Adipose
26	chr1:228455400-228484800	Weak transcription	A549	lung
27	chr1:228455600-228462400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:228456000-228462600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:228456200-228462200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:228456400-228485800	Weak transcription	Hela-S3	cervix
31	chr1:228456600-228463200	Weak transcription	Aorta	Aorta
32	chr1:228456800-228462600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:228456800-228462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:228456800-228462800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:228457200-228472000	Weak transcription	Fetal Heart	heart
36	chr1:228458000-228462800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:228458800-228462400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr1:228458800-228462800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:228459200-228462800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:228459200-228463000	Strong transcription	Left Ventricle	heart
41	chr1:228459200-228463000	Weak transcription	HUVEC	blood vessel
42	chr1:228459400-228462400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:228459400-228462400	Strong transcription	Dnd41	blood
44	chr1:228459400-228462600	Strong transcription	Fetal Stomach	stomach
45	chr1:228459400-228463000	Strong transcription	Fetal Intestine Small	intestine
46	chr1:228459400-228463000	Strong transcription	Thymus	Thymus
47	chr1:228459600-228462400	Strong transcription	Lung	lung
48	chr1:228459600-228462600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:228459600-228462600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:228459800-228462400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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