Variant report

Variant	nsv819122
Chromosome Location	chr1:226346557-226350396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:226350214-226350230	K562	blood:	n/a	n/a
2	POLR2A	chr1:226346818-226347025	K562	blood:	n/a	n/a
3	POLR2A	chr1:226346619-226347969	K562	blood:	n/a	n/a
4	POLR2A	chr1:226349542-226349974	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr1:226347434-226347621	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:226349491-226349624	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr1:226349308-226349309	K562	blood:	n/a	n/a
8	POLR2A	chr1:226348336-226348738	K562	blood:	n/a	n/a
9	POLR2A	chr1:226347324-226347346	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:226348302-226350523	K562	blood:	n/a	n/a
11	POLR2A	chr1:226346689-226346889	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:226347378-226347428	MCF-7	breast:	n/a	n/a
13	RUNX3	chr1:226347914-226348314	GM12878	blood:	n/a	n/a
14	RUNX3	chr1:226347846-226348333	GM12878	blood:	n/a	n/a
15	STAT3	chr1:226349975-226350166	MCF10A-Er-Src	breast:	n/a	n/a
16	ZNF263	chr1:226346289-226346702	HEK293-T-REx	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226346362..226348286-chr1:226349538..226352001,2	MCF-7	breast:
2	chr1:226323029..226325109-chr1:226350142..226352529,2	K562	blood:
3	chr1:226346683..226348956-chr1:226386366..226388887,2	MCF-7	breast:
4	chr1:226349407..226351925-chr1:226359962..226362068,2	MCF-7	breast:
5	chr1:226346362..226348286-chr1:226349538..226352001,2	MCF-7	breast:
6	chr1:226349791..226353592-chr1:226372559..226375723,4	MCF-7	breast:

No data

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000182827	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543255035	chr1:226346557-226346558	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564737255	chr1:226346611-226346612	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144083056	chr1:226346647-226346648	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545447102	chr1:226346654-226346655	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560305107	chr1:226346713-226346714	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112911562	chr1:226346734-226346735	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115103910	chr1:226346751-226346752	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75267544	chr1:226346774-226346775	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111663259	chr1:226346783-226346784	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527248896	chr1:226346810-226346811	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188141295	chr1:226346813-226346814	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201325351	chr1:226346848-226346849	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113921278	chr1:226346856-226346857	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141482742	chr1:226346891-226346892	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180969293	chr1:226346915-226346916	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376198228	chr1:226346978-226346979	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149492799	chr1:226346999-226347000	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200702189	chr1:226347022-226347023	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536279789	chr1:226347025-226347026	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374506795	chr1:226347033-226347034	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368695899	chr1:226347073-226347074	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370313981	chr1:226347108-226347109	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200293584	chr1:226347209-226347210	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200778806	chr1:226347211-226347212	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554136925	chr1:226347275-226347276	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569610074	chr1:226347333-226347334	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569664572	chr1:226347341-226347342	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113559963	chr1:226347448-226347449	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3914142	chr1:226347457-226347458	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs375287168	chr1:226347469-226347470	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576939161	chr1:226347504-226347505	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75668419	chr1:226347517-226347518	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540843889	chr1:226347536-226347537	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75703407	chr1:226347558-226347559	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572436476	chr1:226347645-226347646	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543054784	chr1:226347649-226347650	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371304461	chr1:226347652-226347653	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375811117	chr1:226347683-226347684	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561218199	chr1:226347717-226347718	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550606262	chr1:226347744-226347745	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532053192	chr1:226347759-226347760	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544094748	chr1:226347764-226347765	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9662238	chr1:226347792-226347793	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572480901	chr1:226347796-226347797	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199846671	chr1:226347797-226347798	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186173154	chr1:226347873-226347874	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189222221	chr1:226347895-226347896	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565808985	chr1:226347896-226347897	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369074894	chr1:226347928-226347929	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372050511	chr1:226347949-226347950	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	22522925	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:226329600-226353800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226331000-226353800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:226331000-226353800	Strong transcription	Adipose Nuclei	Adipose
8	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:226331600-226353600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:226331600-226353800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:226331600-226354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:226331600-226355600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:226331800-226353800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:226331800-226353800	Strong transcription	Liver	Liver
16	chr1:226332200-226346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:226333800-226354400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:226337800-226352600	Strong transcription	A549	lung
20	chr1:226338000-226350800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:226338200-226354000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:226338400-226348400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:226338400-226351000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226338400-226353800	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:226338400-226353800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:226338400-226354200	Strong transcription	Placenta	Placenta
27	chr1:226338400-226354400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:226338600-226353600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:226340200-226353200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:226340400-226349200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:226341400-226346800	Weak transcription	Small Intestine	intestine
33	chr1:226341600-226348600	Weak transcription	Stomach Mucosa	stomach
34	chr1:226341600-226348800	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr1:226343000-226348400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:226343400-226353800	Strong transcription	Osteobl	bone
37	chr1:226343600-226347600	Strong transcription	HUVEC	blood vessel
38	chr1:226343600-226353600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr1:226343600-226353800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:226343600-226353800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:226343600-226354200	Strong transcription	HepG2	liver
42	chr1:226343600-226354400	Strong transcription	Dnd41	blood
43	chr1:226343600-226354800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:226343600-226354800	Strong transcription	Primary T cells from cord blood	blood
45	chr1:226343800-226349200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr1:226343800-226350400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr1:226343800-226353800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:226343800-226354000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:226344000-226352400	Strong transcription	HMEC	breast
50	chr1:226344000-226352800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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