Variant report

Variant	esv3406226
Chromosome Location	chr15:77914297-77918495
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	chr15:77902198..77904238-chr15:77912623..77914841,2	K562	blood:
2	chr15:77916360..77920054-chr15:77923729..77926072,4	MCF-7	breast:
3	chr15:77899424..77903075-chr15:77914224..77917029,3	K562	blood:
4	chr15:77914562..77916092-chr15:77921484..77924358,2	MCF-7	breast:
5	chr15:77895225..77896761-chr15:77915510..77917012,2	K562	blood:
6	chr15:77908000..77910749-chr15:77912406..77914677,2	MCF-7	breast:
7	chr15:77897697..77899508-chr15:77917213..77919192,2	K562	blood:
8	chr15:77917075..77919713-chr15:77934421..77936689,2	MCF-7	breast:
9	chr15:77908642..77910166-chr15:77913466..77916078,2	MCF-7	breast:
10	chr15:77910678..77912184-chr15:77913729..77916491,2	K562	blood:
11	chr15:77914149..77916308-chr15:77924706..77928393,3	MCF-7	breast:
12	chr15:77904241..77907935-chr15:77912354..77915026,5	K562	blood:
13	chr15:77916170..77919040-chr15:77941175..77943585,2	K562	blood:
14	chr15:77917906..77920772-chr15:78100061..78102458,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169783	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190789451	chr15:77914339-77914340	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565405615	chr15:77914359-77914360	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568772444	chr15:77914367-77914368	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182944958	chr15:77914379-77914380	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147519359	chr15:77914380-77914381	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555520609	chr15:77914381-77914382	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114280099	chr15:77914415-77914416	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544880885	chr15:77914423-77914424	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56314140	chr15:77914472-77914473	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs118060832	chr15:77914486-77914487	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56340837	chr15:77914576-77914577	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560568620	chr15:77914602-77914603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56343471	chr15:77914688-77914689	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139347655	chr15:77914708-77914709	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561051617	chr15:77914778-77914779	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531492494	chr15:77914779-77914780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150074073	chr15:77914784-77914785	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74745590	chr15:77914798-77914799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187244763	chr15:77914816-77914817	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79145918	chr15:77914863-77914864	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565368200	chr15:77914905-77914906	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535942654	chr15:77914917-77914918	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547924361	chr15:77914924-77914925	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569423945	chr15:77914938-77914939	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535745511	chr15:77914989-77914990	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556729965	chr15:77914990-77914991	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578174128	chr15:77915005-77915006	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34408920	chr15:77915036-77915037	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191704027	chr15:77915055-77915056	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542783912	chr15:77915056-77915057	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539343325	chr15:77915058-77915059	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557200036	chr15:77915059-77915060	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs8023571	chr15:77915103-77915104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs8024724	chr15:77915141-77915142	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7162113	chr15:77915227-77915228	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs576633698	chr15:77915239-77915240	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543219044	chr15:77915259-77915260	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs8024932	chr15:77915282-77915283	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs115431841	chr15:77915285-77915286	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28661259	chr15:77915301-77915302	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370903295	chr15:77915314-77915315	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558916054	chr15:77915327-77915328	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185033258	chr15:77915352-77915353	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551731804	chr15:77915360-77915361	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374557707	chr15:77915362-77915363	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561217530	chr15:77915363-77915364	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144385742	chr15:77915405-77915406	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs28501538	chr15:77915408-77915409	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7162494	chr15:77915414-77915415	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550081474	chr15:77915432-77915433	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77904200-77914400	Weak transcription	Brain Substantia Nigra	brain
2	chr15:77904200-77915400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:77907600-77914400	Weak transcription	Brain Anterior Caudate	brain
4	chr15:77907800-77914800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:77908000-77914800	Weak transcription	Fetal Intestine Small	intestine
6	chr15:77908000-77918800	Weak transcription	Brain Germinal Matrix	brain
7	chr15:77908400-77914400	Weak transcription	Spleen	Spleen
8	chr15:77909000-77914800	Weak transcription	Fetal Brain Male	brain
9	chr15:77910400-77923400	Weak transcription	Pancreas	Pancrea
10	chr15:77910600-77916800	Weak transcription	Fetal Brain Female	brain
11	chr15:77911600-77916600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:77911800-77914400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:77912200-77920200	Enhancers	Brain Angular Gyrus	brain
14	chr15:77912600-77916200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:77912600-77916600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:77912800-77914400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:77913200-77914400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:77913200-77914800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:77913600-77915000	Enhancers	Placenta	Placenta
20	chr15:77913600-77923000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:77913800-77914400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:77913800-77914400	Bivalent Enhancer	HepG2	liver
23	chr15:77913800-77917200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:77913800-77918000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:77914000-77914400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr15:77914000-77914600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr15:77914000-77914800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:77914000-77916200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:77914000-77916200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr15:77914000-77916600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:77914000-77916800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:77914000-77916800	Enhancers	Fetal Muscle Trunk	muscle
33	chr15:77914000-77917200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr15:77914000-77917200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:77914000-77918000	Enhancers	Fetal Lung	lung
36	chr15:77914000-77918400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:77914200-77914400	Genic enhancers	Right Atrium	heart
38	chr15:77914200-77914600	Enhancers	K562	blood
39	chr15:77914200-77915200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:77914200-77915200	Enhancers	Right Ventricle	heart
41	chr15:77914200-77916000	Enhancers	Fetal Muscle Leg	muscle
42	chr15:77914200-77916600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr15:77914200-77917800	Enhancers	Fetal Heart	heart
44	chr15:77914200-77918000	Enhancers	Brain Hippocampus Middle	brain
45	chr15:77914200-77918000	Enhancers	Fetal Stomach	stomach
46	chr15:77914200-77919000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr15:77914200-77920400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:77914400-77914600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr15:77914400-77914600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr15:77914400-77914800	Weak transcription	Right Atrium	heart

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