Variant report

Variant	esv3400321
Chromosome Location	chr19:36121894-36122493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36120238..36121937-chr19:36136573..36139413,2	MCF-7	breast:
2	chr19:36106418..36107940-chr19:36120636..36123625,2	MCF-7	breast:
3	chr19:35739540..35741218-chr19:36118965..36121902,2	MCF-7	breast:
4	chr19:36118444..36125285-chr19:36125367..36133017,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105672	chromatin interactions
ENSG00000126267	chromatin interactions
ENSG00000105699	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190366022	chr19:36121898-36121899	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs551694514	chr19:36121906-36121907	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534180407	chr19:36121952-36121953	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559032301	chr19:36121953-36121954	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537285317	chr19:36121955-36121956	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181521766	chr19:36122006-36122007	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567093559	chr19:36122014-36122015	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371798999	chr19:36122016-36122017	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535945005	chr19:36122033-36122034	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374227223	chr19:36122036-36122037	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374790647	chr19:36122126-36122127	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372287112	chr19:36122158-36122159	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200541123	chr19:36122166-36122167	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112394794	chr19:36122190-36122191	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375223979	chr19:36122193-36122194	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538251490	chr19:36122298-36122299	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147498802	chr19:36122299-36122300	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369485647	chr19:36122302-36122303	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs116378670	chr19:36122375-36122376	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73599249	chr19:36122418-36122419	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113132453	chr19:36122420-36122421	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544096809	chr19:36122440-36122441	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2285415	chr19:36122441-36122442	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs547972415	chr19:36122493-36122494	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36120600-36129800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36120800-36122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:36120800-36122000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36120800-36122000	Weak transcription	Pancreas	Pancrea
5	chr19:36120800-36122200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:36120800-36122200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr19:36120800-36122200	Weak transcription	Psoas Muscle	Psoas
8	chr19:36120800-36123400	Weak transcription	Small Intestine	intestine
9	chr19:36120800-36126200	Weak transcription	Right Atrium	heart
10	chr19:36120800-36129600	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:36120800-36132400	Weak transcription	Fetal Heart	heart
12	chr19:36120800-36134000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:36121000-36122000	Weak transcription	Primary B cells from cord blood	blood
14	chr19:36121000-36122000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:36121000-36122200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:36121000-36122400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr19:36121000-36122400	Weak transcription	Fetal Brain Male	brain
18	chr19:36121000-36129000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:36121000-36129600	Strong transcription	Fetal Stomach	stomach
20	chr19:36121200-36122000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36121200-36122000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:36121200-36122200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr19:36121200-36124800	Strong transcription	Right Ventricle	heart
24	chr19:36121200-36125000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:36121200-36125200	Strong transcription	NHEK	skin
26	chr19:36121200-36128000	Strong transcription	HSMM	muscle
27	chr19:36121200-36129000	Strong transcription	Adipose Nuclei	Adipose
28	chr19:36121200-36129200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:36121200-36129200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr19:36121200-36129400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:36121200-36129400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:36121200-36129400	Strong transcription	Liver	Liver
33	chr19:36121200-36129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:36121200-36129600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:36121200-36129600	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:36121200-36129600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:36121200-36129600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:36121200-36129600	Strong transcription	Fetal Thymus	thymus
39	chr19:36121400-36123200	Strong transcription	HUVEC	blood vessel
40	chr19:36121400-36124600	Strong transcription	Fetal Lung	lung
41	chr19:36121400-36125600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:36121400-36126400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:36121400-36129000	Strong transcription	Colonic Mucosa	Colon
44	chr19:36121400-36129000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:36121400-36129200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:36121400-36129200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:36121400-36129200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:36121400-36129400	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:36121400-36129600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:36121400-36129600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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