Variant report

Variant	nsv516277
Chromosome Location	chr1:226825341-226833304
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	chr1:226828494..226832604-chr1:226851440..226853779,3	K562	blood:
2	chr1:226820706..226823635-chr1:226824832..226827182,2	MCF-7	breast:
3	chr1:226832724..226834932-chr1:226836674..226839333,2	MCF-7	breast:
4	chr1:226827940..226829963-chr1:226831824..226834705,3	K562	blood:
5	chr1:226824237..226826518-chr1:226852192..226855552,3	K562	blood:
6	chr1:226829138..226831171-chr1:226838507..226841235,2	MCF-7	breast:
7	chr1:226827940..226829963-chr1:226831824..226834705,3	K562	blood:
8	chr1:226831819..226832498-chr1:227015490..227016147,2	MCF-7	breast:
9	chr1:226830168..226832886-chr1:227064468..227067080,2	K562	blood:
10	chr1:226827872..226829435-chr1:227013407..227016393,2	MCF-7	breast:
11	chr1:226820120..226821786-chr1:226825137..226827327,2	K562	blood:

No data

Extended variants
information (count: 313 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2236604	chr1:226825341-226825342	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144186587	chr1:226825383-226825384	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139555467	chr1:226825406-226825407	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs371374522	chr1:226825410-226825411	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs142586470	chr1:226825420-226825421	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs41314270	chr1:226825448-226825449	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs566987106	chr1:226825483-226825484	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs150804526	chr1:226825487-226825488	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs115118723	chr1:226825488-226825489	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs573973179	chr1:226825489-226825490	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs538173811	chr1:226825524-226825525	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs555863655	chr1:226825562-226825563	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs185678391	chr1:226825588-226825589	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs6657918	chr1:226825596-226825597	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs544692647	chr1:226825615-226825616	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs560149880	chr1:226825633-226825634	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs571808887	chr1:226825668-226825669	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs562921504	chr1:226825691-226825692	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs190508432	chr1:226825723-226825724	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs533534486	chr1:226825784-226825785	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs551286843	chr1:226825785-226825786	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs113370468	chr1:226825792-226825793	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs577193938	chr1:226825803-226825804	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs563062624	chr1:226825880-226825881	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs76591303	chr1:226825884-226825885	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs551494605	chr1:226825983-226825984	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs566925675	chr1:226825985-226825986	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs527827553	chr1:226825990-226825991	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs539860149	chr1:226825991-226825992	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs34633041	chr1:226826087-226826088	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs76426636	chr1:226826108-226826109	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73100921	chr1:226826125-226826126	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537665160	chr1:226826128-226826129	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs181782285	chr1:226826132-226826133	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571458517	chr1:226826138-226826139	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538579987	chr1:226826164-226826165	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553395303	chr1:226826204-226826205	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs573487180	chr1:226826242-226826243	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571800974	chr1:226826316-226826317	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542020158	chr1:226826320-226826321	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186608158	chr1:226826348-226826349	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555520960	chr1:226826401-226826402	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs573869219	chr1:226826409-226826410	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs77435141	chr1:226826446-226826447	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs551032418	chr1:226826454-226826455	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs533461007	chr1:226826459-226826460	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs10495246	chr1:226826484-226826485	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs552313447	chr1:226826494-226826495	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs527763622	chr1:226826540-226826541	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs549470002	chr1:226826560-226826561	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	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
Acute lymphoblastic leukemia	21098271	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

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
3	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
4	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
6	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
7	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:226817200-226825400	Strong transcription	Lung	lung
9	chr1:226817200-226828000	Weak transcription	Fetal Brain Female	brain
10	chr1:226817200-226830600	Strong transcription	Fetal Intestine Small	intestine
11	chr1:226817800-226828000	Weak transcription	Aorta	Aorta
12	chr1:226818200-226826400	Weak transcription	Pancreas	Pancrea
13	chr1:226819200-226830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:226819600-226826600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:226819800-226825400	Genic enhancers	Spleen	Spleen
16	chr1:226820400-226828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr1:226820800-226831000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:226821400-226825400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:226821400-226825400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:226821600-226825400	Strong transcription	NHLF	lung
22	chr1:226821800-226825400	Genic enhancers	Primary T cells from cord blood	blood
23	chr1:226822000-226826200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:226822000-226826800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:226822000-226828200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:226822000-226833400	Weak transcription	Fetal Heart	heart
27	chr1:226822200-226825600	Strong transcription	Brain Substantia Nigra	brain
28	chr1:226822400-226825800	Strong transcription	Brain Anterior Caudate	brain
29	chr1:226822800-226828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:226823000-226827400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:226823200-226825600	Strong transcription	Brain Hippocampus Middle	brain
32	chr1:226823200-226826400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:226823200-226830000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:226823200-226834800	Weak transcription	Fetal Kidney	kidney
35	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
36	chr1:226823400-226826200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:226823400-226828200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:226823400-226828400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr1:226823400-226828600	Strong transcription	Fetal Intestine Large	intestine
40	chr1:226823400-226834400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr1:226823600-226826600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr1:226823600-226830000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:226823600-226830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:226823600-226831000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:226823800-226829800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr1:226823800-226829800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:226823800-226830400	Weak transcription	HMEC	breast
48	chr1:226823800-226830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:226823800-226830600	Strong transcription	Esophagus	oesophagus
50	chr1:226823800-226830600	Weak transcription	Stomach Mucosa	stomach

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