Variant report

Variant	nsv94676
Chromosome Location	chr15:43774977-43777774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43770785-43782117..15:44080886-44089111	Hela-S3	cervix:
2	chr15:43767652..43770142-chr15:43772161..43775019,3	K562	blood:
3	15:43770785-43782117..15:43792489-43802874	Hela-S3	cervix:
4	chr15:43776347..43779383-chr15:43782753..43785548,3	K562	blood:
5	chr15:43775217..43776099-chr15:43806529..43807298,2	MCF-7	breast:
6	chr15:43761184..43763590-chr15:43774247..43776021,2	K562	blood:
7	chr15:43776347..43778710-chr15:43783063..43784635,2	K562	blood:

Variant related genes	Relation type
ENSG00000242028	chromatin interactions
ENSG00000221792	chromatin interactions
ENSG00000140264	chromatin interactions
ENSG00000067369	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59569850	chr15:43774978-43774979	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs533947622	chr15:43775003-43775004	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559582561	chr15:43775006-43775007	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs545519643	chr15:43775045-43775046	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs148912061	chr15:43775091-43775092	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs530942003	chr15:43775146-43775147	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs544651071	chr15:43775164-43775165	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs143585473	chr15:43775323-43775324	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs529911508	chr15:43775367-43775368	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs548182368	chr15:43775400-43775401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs369418682	chr15:43775431-43775432	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs60263686	chr15:43775469-43775470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs71431896	chr15:43775470-43775471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs530372857	chr15:43775495-43775496	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377707768	chr15:43775528-43775529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs547160569	chr15:43775539-43775540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs566957290	chr15:43775544-43775545	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs370406236	chr15:43775572-43775573	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs180690920	chr15:43775593-43775594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs377346829	chr15:43775663-43775664	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs551871177	chr15:43775672-43775673	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs568646746	chr15:43775695-43775696	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs185996450	chr15:43775717-43775718	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs554318320	chr15:43775723-43775724	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs370951767	chr15:43775727-43775728	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs544122	chr15:43775732-43775733	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs553884470	chr15:43775756-43775757	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs574170198	chr15:43775773-43775774	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs2247734	chr15:43775778-43775779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538364483	chr15:43775836-43775837	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs545482550	chr15:43775870-43775871	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs563303225	chr15:43775882-43775883	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs689754	chr15:43775895-43775896	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544590881	chr15:43775911-43775912	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs561165305	chr15:43775928-43775929	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs190500837	chr15:43775959-43775960	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs540593906	chr15:43775977-43775978	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374580946	chr15:43775983-43775984	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs150989867	chr15:43775991-43775992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368414459	chr15:43776012-43776013	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs532552816	chr15:43776018-43776019	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs552382240	chr15:43776025-43776026	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs182211767	chr15:43776036-43776037	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs140805172	chr15:43776081-43776082	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs531348395	chr15:43776085-43776086	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs578227419	chr15:43776123-43776124	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs186525017	chr15:43776141-43776142	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs567967982	chr15:43776142-43776143	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs190572763	chr15:43776152-43776153	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs183175265	chr15:43776157-43776158	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
7	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:43751400-43775600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:43752800-43775200	Strong transcription	Placenta	Placenta
11	chr15:43758600-43775800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:43759600-43779800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:43760400-43784600	Weak transcription	Psoas Muscle	Psoas
14	chr15:43763400-43775200	Strong transcription	Fetal Stomach	stomach
15	chr15:43763400-43783800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:43764200-43775200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:43764200-43775200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:43764200-43777400	Strong transcription	Brain Germinal Matrix	brain
19	chr15:43764200-43784400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:43765000-43775400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:43766400-43784000	Weak transcription	Spleen	Spleen
22	chr15:43766600-43778800	Strong transcription	NH-A	brain
23	chr15:43767000-43784400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:43767200-43783800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:43767800-43784400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:43767800-43784400	Weak transcription	Colonic Mucosa	Colon
27	chr15:43767800-43784400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:43769000-43784400	Weak transcription	Small Intestine	intestine
29	chr15:43770800-43779800	Weak transcription	Fetal Heart	heart
30	chr15:43771200-43779600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:43771200-43783800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:43771400-43779600	Weak transcription	Right Ventricle	heart
33	chr15:43771800-43780600	Weak transcription	A549	lung
34	chr15:43771800-43783200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:43772000-43781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:43772000-43784400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr15:43772000-43784400	Weak transcription	NHEK	skin
38	chr15:43772200-43775400	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:43772200-43776000	Weak transcription	Fetal Brain Male	brain
40	chr15:43772200-43780200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:43772200-43781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr15:43772200-43783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:43772400-43777800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr15:43772400-43778800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:43772400-43779400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:43772400-43779400	Weak transcription	HUVEC	blood vessel
47	chr15:43772400-43779800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:43772400-43779800	Weak transcription	Aorta	Aorta
49	chr15:43772400-43779800	Weak transcription	Left Ventricle	heart
50	chr15:43772400-43779800	Weak transcription	Thymus	Thymus

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