Variant report

Variant	esv3426417
Chromosome Location	chr1:228505129-228509427
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228502238..228506957-chr1:228507796..228512832,5	K562	blood:
2	chr1:228507239..228509490-chr1:228538942..228541133,2	MCF-7	breast:
3	chr1:228502402..228504085-chr1:228504567..228506934,2	K562	blood:
4	chr1:228326503..228329334-chr1:228508216..228510829,2	K562	blood:
5	chr1:228499607..228502082-chr1:228504581..228506984,2	K562	blood:
6	chr1:228502247..228505195-chr1:228643946..228646656,2	K562	blood:
7	chr1:228501491..228503449-chr1:228504540..228507781,3	MCF-7	breast:
8	chr1:228508449..228510015-chr1:228510089..228512047,2	MCF-7	breast:
9	chr1:228507055..228508923-chr1:228510285..228512902,2	K562	blood:
10	chr1:228503766..228506759-chr1:228509327..228513259,3	K562	blood:
11	chr1:228504356..228506678-chr1:228523750..228525517,2	K562	blood:
12	chr1:228502238..228506957-chr1:228507796..228512832,5	K562	blood:
13	chr1:228504380..228506574-chr1:228512944..228514959,2	K562	blood:
14	chr1:228503766..228506759-chr1:228509327..228513259,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143774	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000196890	chromatin interactions

Extended variants
information (count: 219 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370526673	chr1:228505135-228505136	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535934707	chr1:228505158-228505159	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs4653942	chr1:228505204-228505205	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs77378747	chr1:228505206-228505207	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10916300	chr1:228505210-228505211	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367648600	chr1:228505224-228505225	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370547153	chr1:228505235-228505236	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538792244	chr1:228505256-228505257	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201223554	chr1:228505257-228505258	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368699683	chr1:228505261-228505262	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113376653	chr1:228505275-228505276	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199865640	chr1:228505276-228505277	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541381539	chr1:228505277-228505278	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368391837	chr1:228505278-228505279	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554991453	chr1:228505312-228505313	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574918646	chr1:228505349-228505350	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543531441	chr1:228505359-228505360	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201998931	chr1:228505367-228505368	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532516650	chr1:228505368-228505369	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200987707	chr1:228505378-228505379	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375018093	chr1:228505381-228505382	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546340667	chr1:228505423-228505424	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368964682	chr1:228505424-228505425	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116642293	chr1:228505431-228505432	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528758181	chr1:228505446-228505447	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548512175	chr1:228505466-228505467	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566909469	chr1:228505469-228505470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61825303	chr1:228505478-228505479	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114035609	chr1:228505488-228505489	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568043995	chr1:228505494-228505495	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146099527	chr1:228505518-228505519	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12040123	chr1:228505519-228505520	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373467026	chr1:228505581-228505582	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377629949	chr1:228505590-228505591	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565920635	chr1:228505603-228505604	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371073566	chr1:228505612-228505613	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373712741	chr1:228505621-228505622	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377605984	chr1:228505641-228505642	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534897838	chr1:228505659-228505660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1188729	chr1:228505668-228505669	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1188728	chr1:228505699-228505700	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs199515361	chr1:228505700-228505701	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367916236	chr1:228505721-228505722	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200399314	chr1:228505725-228505726	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3795800	chr1:228505727-228505728	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368304535	chr1:228505738-228505739	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3795801	chr1:228505739-228505740	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3795802	chr1:228505750-228505751	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373950849	chr1:228505769-228505770	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559512669	chr1:228505788-228505789	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Melanoma	17363583	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228490800-228506800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:228491600-228505800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:228497600-228507400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:228497600-228508400	Weak transcription	Psoas Muscle	Psoas
5	chr1:228498000-228505400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:228498200-228507000	Weak transcription	Fetal Kidney	kidney
7	chr1:228498600-228506800	Weak transcription	Fetal Heart	heart
8	chr1:228499000-228507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:228499800-228506800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:228500000-228509400	Weak transcription	Right Atrium	heart
11	chr1:228500600-228505800	Weak transcription	Fetal Lung	lung
12	chr1:228500800-228506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:228500800-228506200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:228501000-228507000	Weak transcription	Fetal Brain Male	brain
15	chr1:228501000-228507200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:228501200-228505400	Weak transcription	Dnd41	blood
17	chr1:228501200-228506800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:228501200-228506800	Weak transcription	Ovary	ovary
19	chr1:228501200-228507000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:228501400-228506800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:228502000-228505200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:228502000-228506800	Weak transcription	Esophagus	oesophagus
23	chr1:228502000-228507600	Strong transcription	Fetal Intestine Small	intestine
24	chr1:228502200-228506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:228502200-228507000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:228502200-228507000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:228502600-228506400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:228502800-228507200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:228502800-228507200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:228502800-228511200	Strong transcription	Fetal Stomach	stomach
31	chr1:228503000-228512800	Strong transcription	Right Ventricle	heart
32	chr1:228503200-228513000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:228503400-228512400	Strong transcription	Left Ventricle	heart
34	chr1:228503600-228505800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:228503600-228507000	Weak transcription	HSMMtube	muscle
36	chr1:228503600-228509200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:228503600-228511000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:228503600-228511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:228503600-228511600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:228503600-228513000	Strong transcription	Thymus	Thymus
41	chr1:228503800-228507400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:228503800-228510800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:228503800-228511400	Strong transcription	Fetal Brain Female	brain
44	chr1:228504000-228509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:228504000-228511600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:228504000-228513000	Strong transcription	Brain Germinal Matrix	brain
47	chr1:228504200-228505600	Strong transcription	Lung	lung
48	chr1:228504200-228505800	Weak transcription	Pancreas	Pancrea
49	chr1:228504200-228508600	Strong transcription	Fetal Muscle Leg	muscle
50	chr1:228504400-228512800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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