Variant report

Variant	esv1844934
Chromosome Location	chr1:216132878-216179889
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216174957..216175816-chr1:216394270..216394785,2	MCF-7	breast:
2	chr1:216139397..216141428-chr1:216167682..216169961,2	K562	blood:
3	chr1:216135175..216136682-chr1:216139501..216141114,2	K562	blood:
4	chr1:216137965..216139586-chr1:216139815..216142602,2	MCF-7	breast:
5	chr1:216165696..216166649-chr1:216292836..216293591,2	MCF-7	breast:
6	chr1:216165632..216166564-chr1:216394212..216395125,5	MCF-7	breast:
7	chr1:216139397..216141428-chr1:216167682..216169961,2	K562	blood:
8	chr1:215910354..215912136-chr1:216136601..216138157,2	K562	blood:
9	chr1:215883369..215884389-chr1:216165659..216166604,3	MCF-7	breast:
10	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
11	chr1:216166090..216166621-chr1:216293129..216293695,2	MCF-7	breast:
12	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
13	chr1:216135175..216136682-chr1:216139501..216141114,2	K562	blood:
14	chr1:216137965..216139586-chr1:216139815..216142602,2	MCF-7	breast:
15	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
16	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
17	chr1:216165794..216166615-chr1:216367342..216367871,2	MCF-7	breast:
18	chr1:216173759..216174488-chr1:216367163..216367696,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-7	chr1:216159549-216160769	NONHSAT009477
2	lnc-KCTD3-7	chr1:216132866-216132891	NONHSAT009477
3	lnc-KCTD3-7	chr1:216151720-216151946	NONHSAT009477
4	lnc-KCTD3-7	chr1:216158158-216158269	NONHSAT009477

No data

Variant related genes	Relation type
ENSG00000236292	chromatin interactions

Extended variants
information (count: 1809 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1809 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12410350	chr1:216132878-216132879	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79253463	chr1:216132927-216132928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529702059	chr1:216132940-216132941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181993751	chr1:216132966-216132967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76920138	chr1:216132974-216132975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531557546	chr1:216133003-216133004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553986	chr1:216133027-216133028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76338216	chr1:216133051-216133052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575365591	chr1:216133097-216133098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531430167	chr1:216133120-216133121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114664502	chr1:216133128-216133129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559299089	chr1:216133243-216133244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528786230	chr1:216133255-216133256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17025758	chr1:216133275-216133276	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562285929	chr1:216133315-216133316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35272582	chr1:216133322-216133323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184370706	chr1:216133341-216133342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540159353	chr1:216133387-216133388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556557463	chr1:216133390-216133391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112096220	chr1:216133393-216133394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531101536	chr1:216133412-216133413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189220065	chr1:216133413-216133414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535663103	chr1:216133434-216133435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146621205	chr1:216133454-216133455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574240711	chr1:216133500-216133501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561561857	chr1:216133502-216133503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139115751	chr1:216133509-216133510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551177260	chr1:216133572-216133573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528653562	chr1:216133618-216133619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560130765	chr1:216133669-216133670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76674307	chr1:216133701-216133702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545757388	chr1:216133709-216133710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181253614	chr1:216133720-216133721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531593395	chr1:216133748-216133749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143945455	chr1:216133786-216133787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186675795	chr1:216133804-216133805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116034057	chr1:216133847-216133848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190716122	chr1:216133884-216133885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116280619	chr1:216133894-216133895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17025764	chr1:216133903-216133904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533460184	chr1:216133905-216133906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180734483	chr1:216133961-216133962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550113493	chr1:216133989-216133990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186035855	chr1:216134075-216134076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148940586	chr1:216134115-216134116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546679314	chr1:216134116-216134117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190713721	chr1:216134124-216134125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79845108	chr1:216134128-216134129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553608818	chr1:216134177-216134178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6670538	chr1:216134181-216134182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216131400-216133400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:216132000-216144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216132200-216133200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:216133000-216133400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:216133200-216133400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216139000-216142600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:216142400-216142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:216142600-216143800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:216142600-216145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:216143200-216146000	Enhancers	Fetal Heart	heart
11	chr1:216143400-216144200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:216143600-216144200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:216143800-216144200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:216143800-216144200	Enhancers	Colon Smooth Muscle	Colon
15	chr1:216144000-216144200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:216144000-216144200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:216144000-216145600	Enhancers	NHLF	lung
18	chr1:216144200-216145400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:216144200-216145400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:216144200-216145400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:216144200-216150600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:216144400-216145400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:216145400-216145600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:216145400-216145800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:216145400-216145800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:216145400-216145800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:216145400-216145800	Bivalent Enhancer	Left Ventricle	heart
28	chr1:216145600-216145800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:216147600-216147800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:216148200-216148600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:216150400-216166200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:216154800-216155800	Enhancers	Fetal Intestine Large	intestine
33	chr1:216157000-216157600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:216157200-216157600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:216157600-216160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:216160000-216160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:216160000-216161600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:216160400-216160800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:216160800-216161000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:216161000-216168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:216164800-216165600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:216164800-216165600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:216164800-216165800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:216165000-216165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:216165000-216166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:216165200-216166200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:216165200-216166800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:216165600-216166200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:216166000-216166400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:216166000-216166600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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