Variant report

Variant	esv3399981
Chromosome Location	chr1:228369154-228371702
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228368663..228372025-chr1:228373776..228376708,3	K562	blood:
2	chr1:228367725..228372821-chr1:228377689..228380181,6	MCF-7	breast:
3	chr1:228369516..228372082-chr1:228373612..228375927,2	K562	blood:
4	chr1:228368050..228370478-chr1:228645096..228646791,2	K562	blood:
5	chr1:228362275..228366557-chr1:228367502..228371326,4	MCF-7	breast:
6	chr1:228270273..228272370-chr1:228367891..228370127,2	K562	blood:
7	chr1:228326194..228329477-chr1:228370427..228373413,3	K562	blood:
8	chr1:228360879..228362899-chr1:228368944..228370884,2	MCF-7	breast:
9	chr1:228351408..228353354-chr1:228370954..228373182,2	MCF-7	breast:
10	chr1:228370958..228373049-chr1:228517204..228519140,2	K562	blood:
11	chr1:228352047..228354413-chr1:228369198..228370701,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143774	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000203684	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531916398	chr1:228369168-228369169	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs190890404	chr1:228369210-228369211	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs149748472	chr1:228369303-228369304	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs73095437	chr1:228369372-228369373	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145593869	chr1:228369396-228369397	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs566615067	chr1:228369461-228369462	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs139329766	chr1:228369466-228369467	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs375356279	chr1:228369547-228369548	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs12039801	chr1:228369612-228369613	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569137333	chr1:228369631-228369632	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs369481250	chr1:228369633-228369634	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs538162518	chr1:228369641-228369642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs373585998	chr1:228369652-228369653	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs74142631	chr1:228369664-228369665	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146587869	chr1:228369692-228369693	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs374203264	chr1:228369709-228369710	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs141286956	chr1:228369733-228369734	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs573824146	chr1:228369735-228369736	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs376797928	chr1:228369814-228369815	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs12749627	chr1:228369839-228369840	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs543017041	chr1:228369849-228369850	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs542798817	chr1:228369870-228369871	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs562760078	chr1:228369877-228369878	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs371005303	chr1:228369893-228369894	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs72321758	chr1:228369894-228369895	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs35492101	chr1:228369899-228369900	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs398053877	chr1:228369902-228369903	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs375768474	chr1:228369903-228369904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs3196879	chr1:228369946-228369947	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs183982362	chr1:228369954-228369955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs376926539	chr1:228370004-228370005	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs370636580	chr1:228370053-228370054	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs553281420	chr1:228370055-228370056	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs562812099	chr1:228370068-228370069	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs531597189	chr1:228370084-228370085	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs551607623	chr1:228370159-228370160	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs564982634	chr1:228370209-228370210	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs527474418	chr1:228370293-228370294	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs547211714	chr1:228370311-228370312	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs546666792	chr1:228370320-228370321	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs560269975	chr1:228370331-228370332	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529011974	chr1:228370340-228370341	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs549168753	chr1:228370354-228370355	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs569073913	chr1:228370371-228370372	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs537706339	chr1:228370374-228370375	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs113476336	chr1:228370379-228370380	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs551642573	chr1:228370421-228370422	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs571497332	chr1:228370486-228370487	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534175094	chr1:228370512-228370513	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs397860226	chr1:228370530-228370531	Weak transcription Enhancers	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
2	chr1:228354600-228370400	Weak transcription	Right Atrium	heart
3	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
5	chr1:228354800-228370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:228354800-228371200	Weak transcription	HSMMtube	muscle
7	chr1:228354800-228373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:228355000-228370600	Weak transcription	HepG2	liver
9	chr1:228355000-228372400	Weak transcription	Stomach Mucosa	stomach
10	chr1:228355000-228373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:228355000-228373200	Weak transcription	Hela-S3	cervix
12	chr1:228363200-228373200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:228363200-228373200	Weak transcription	Fetal Thymus	thymus
14	chr1:228363400-228375000	Weak transcription	Esophagus	oesophagus
15	chr1:228363400-228375800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:228363400-228386400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:228363600-228373200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:228363600-228374800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:228363800-228373400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:228363800-228385200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:228364000-228369200	Weak transcription	Colonic Mucosa	Colon
22	chr1:228364000-228371600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:228364000-228373000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:228364000-228373000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:228364000-228373200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:228364000-228384800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:228364200-228371800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:228364400-228386600	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:228364400-228388600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:228364600-228373000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:228364600-228386600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:228364800-228370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:228364800-228373400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:228364800-228375800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:228364800-228385600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:228365000-228371600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:228365000-228373000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:228365000-228377600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:228365000-228379600	Weak transcription	Gastric	stomach
40	chr1:228365000-228380400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:228365200-228375400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:228365200-228386600	Weak transcription	Thymus	Thymus
43	chr1:228365200-228387800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:228365600-228370600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:228365800-228375800	Weak transcription	Fetal Brain Female	brain
46	chr1:228365800-228382600	Weak transcription	Spleen	Spleen
47	chr1:228366000-228386400	Weak transcription	Primary B cells from cord blood	blood
48	chr1:228366600-228370600	Weak transcription	Primary T cells from cord blood	blood
49	chr1:228366800-228369200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:228366800-228371800	Weak transcription	Fetal Muscle Trunk	muscle

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