Variant report

Variant	esv3437235
Chromosome Location	chr1:226835029-226839227
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	chr1:226829138..226831171-chr1:226838507..226841235,2	MCF-7	breast:
2	chr1:226834023..226836698-chr1:226841817..226845290,3	MCF-7	breast:
3	chr1:226834690..226837543-chr1:226839422..226842104,4	K562	blood:
4	chr1:226837244..226840102-chr1:226865021..226866969,2	MCF-7	breast:
5	chr1:226836459..226838161-chr1:226889738..226891302,2	MCF-7	breast:
6	chr1:226836884..226839158-chr1:226845149..226848067,3	K562	blood:
7	chr1:226832724..226834932-chr1:226836674..226839333,2	MCF-7	breast:
8	chr1:226837983..226838607-chr1:226896830..226897365,2	MCF-7	breast:
9	chr1:226821964..226822670-chr1:226837629..226838472,2	K562	blood:
10	chr1:226834406..226836488-chr1:227013877..227016506,3	K562	blood:
11	chr1:226833813..226836204-chr1:226860352..226862883,2	K562	blood:
12	chr1:226838115..226840553-chr1:226843836..226846958,3	MCF-7	breast:
13	chr1:226834406..226836185-chr1:227013877..227015402,2	K562	blood:
14	chr1:226821967..226822477-chr1:226837637..226838163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228382	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	rs372438913	chr1:226835030-226835031	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1144835	chr1:226835214-226835215	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539208153	chr1:226835242-226835243	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143345075	chr1:226835249-226835250	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569446991	chr1:226835300-226835301	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536988713	chr1:226835321-226835322	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548266923	chr1:226835325-226835326	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572667745	chr1:226835343-226835344	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570005562	chr1:226835439-226835440	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375619416	chr1:226835449-226835450	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78558904	chr1:226835478-226835479	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562733909	chr1:226835491-226835492	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183341177	chr1:226835529-226835530	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553165507	chr1:226835558-226835559	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3768372	chr1:226835632-226835633	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs542076486	chr1:226835675-226835676	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185763301	chr1:226835689-226835690	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151274983	chr1:226835717-226835718	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545817376	chr1:226835721-226835722	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527451419	chr1:226835740-226835741	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191894706	chr1:226835744-226835745	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114449374	chr1:226835778-226835779	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112252564	chr1:226835785-226835786	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547296862	chr1:226835803-226835804	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547661685	chr1:226835804-226835805	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140475688	chr1:226835805-226835806	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3835707	chr1:226835830-226835831	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397841095	chr1:226835831-226835832	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200965738	chr1:226835832-226835833	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530254291	chr1:226835837-226835838	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548830141	chr1:226835849-226835850	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570026573	chr1:226835862-226835863	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557834952	chr1:226835883-226835884	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369056754	chr1:226835921-226835922	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573000866	chr1:226835924-226835925	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529760748	chr1:226835931-226835932	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114833308	chr1:226835965-226835966	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3768373	chr1:226836036-226836037	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs569666165	chr1:226836046-226836047	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12076436	chr1:226836077-226836078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs574538587	chr1:226836096-226836097	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535299941	chr1:226836102-226836103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557172525	chr1:226836121-226836122	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114870529	chr1:226836133-226836134	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11412124	chr1:226836163-226836164	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs397705985	chr1:226836167-226836168	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs4653762	chr1:226836190-226836191	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs564105353	chr1:226836222-226836223	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150006436	chr1:226836225-226836226	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145218832	chr1:226836226-226836227	Weak transcription Strong transcription 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
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:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
2	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
3	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
4	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
7	chr1:226823800-226837400	Strong transcription	Dnd41	blood
8	chr1:226824800-226836800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226828000-226837200	Genic enhancers	Brain Hippocampus Middle	brain
10	chr1:226829400-226843800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:226830400-226835600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:226830400-226840400	Genic enhancers	Primary T cells from cord blood	blood
13	chr1:226830400-226840400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:226830600-226835800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:226830600-226838000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:226831200-226837400	Genic enhancers	Brain Substantia Nigra	brain
17	chr1:226831400-226841600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:226831600-226835200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:226831600-226835200	Weak transcription	NHEK	skin
20	chr1:226831800-226837000	Strong transcription	Fetal Intestine Small	intestine
21	chr1:226832000-226836000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:226832000-226838400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:226832000-226843800	Weak transcription	HMEC	breast
24	chr1:226832200-226836000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:226832200-226837200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:226832200-226837400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:226832400-226836000	Strong transcription	Pancreas	Pancrea
28	chr1:226832400-226836200	Strong transcription	Fetal Lung	lung
29	chr1:226832400-226836600	Strong transcription	Fetal Intestine Large	intestine
30	chr1:226832400-226837400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:226832400-226843600	Weak transcription	Stomach Mucosa	stomach
32	chr1:226832800-226837400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:226832800-226837400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:226833000-226837000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:226833000-226837200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:226833000-226838800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:226833200-226835400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:226833400-226835200	Genic enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:226833400-226835400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:226833400-226837000	Strong transcription	Gastric	stomach
41	chr1:226833400-226837200	Strong transcription	GM12878-XiMat	blood
42	chr1:226833400-226837400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:226833400-226837400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:226833600-226835600	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr1:226833600-226835800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:226833600-226836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:226833600-226844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:226833800-226835200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
49	chr1:226833800-226836200	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:226833800-226837400	Strong transcription	Rectal Mucosa Donor 29	rectum

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