Variant report

Variant	nsv967071
Chromosome Location	chr3:138496873-138501049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138497639..138499838-chr3:138521505..138523466,2	K562	blood:
2	chr3:138497768..138501036-chr3:138504474..138507070,3	MCF-7	breast:
3	chr3:138491707..138493497-chr3:138496731..138499014,2	K562	blood:
4	chr3:138491707..138493497-chr3:138496731..138499046,3	K562	blood:

Extended variants
information (count: 170 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs181771190	chr3:138496875-138496876	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144439147	chr3:138496892-138496893	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs361068	chr3:138496948-138496949	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs186883088	chr3:138496950-138496951	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141965701	chr3:138497021-138497022	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533533798	chr3:138497033-138497034	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78291318	chr3:138497049-138497050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567104635	chr3:138497089-138497090	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535862992	chr3:138497092-138497093	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190612583	chr3:138497115-138497116	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569273088	chr3:138497129-138497130	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538372999	chr3:138497170-138497171	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146370388	chr3:138497205-138497206	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558268649	chr3:138497346-138497347	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371001512	chr3:138497376-138497377	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577778954	chr3:138497391-138497392	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533961193	chr3:138497429-138497430	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553785645	chr3:138497439-138497440	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573919216	chr3:138497451-138497452	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552350509	chr3:138497487-138497488	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4894349	chr3:138497491-138497492	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542508295	chr3:138497516-138497517	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62282164	chr3:138497546-138497547	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145819583	chr3:138497576-138497577	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544716944	chr3:138497596-138497597	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564962852	chr3:138497600-138497601	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533363628	chr3:138497622-138497623	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547133645	chr3:138497631-138497632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182001960	chr3:138497771-138497772	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529664172	chr3:138497777-138497778	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549678754	chr3:138497807-138497808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201468322	chr3:138497869-138497870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397803708	chr3:138497880-138497881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551774770	chr3:138497894-138497895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs63042260	chr3:138497929-138497930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79806416	chr3:138497944-138497945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111666144	chr3:138497947-138497948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371163024	chr3:138497954-138497955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569309107	chr3:138497982-138497983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538207838	chr3:138498020-138498021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551607930	chr3:138498025-138498026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571668998	chr3:138498028-138498029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149227820	chr3:138498118-138498119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34410486	chr3:138498147-138498148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541483322	chr3:138498177-138498178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184910744	chr3:138498183-138498184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189718553	chr3:138498186-138498187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111618179	chr3:138498219-138498220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186459919	chr3:138498227-138498228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4035075	chr3:138498231-138498232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138393800-138515000	Weak transcription	Aorta	Aorta
2	chr3:138408400-138499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:138488000-138497000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:138488000-138497200	Weak transcription	Gastric	stomach
5	chr3:138488000-138498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:138488000-138499800	Weak transcription	Thymus	Thymus
7	chr3:138488000-138504600	Weak transcription	Primary B cells from cord blood	blood
8	chr3:138488000-138519200	Weak transcription	Spleen	Spleen
9	chr3:138488200-138497000	Weak transcription	Fetal Intestine Large	intestine
10	chr3:138488200-138499600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:138488200-138499600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:138488200-138503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:138488400-138512200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:138489000-138511600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:138489200-138499200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:138489200-138500000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:138489200-138519200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:138489800-138499000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr3:138489800-138499200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:138490200-138499200	Weak transcription	Dnd41	blood
21	chr3:138490800-138499200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:138490800-138499400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:138492400-138515800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:138494200-138505600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:138494400-138499600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:138494400-138500200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr3:138494400-138511600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:138494400-138511600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:138494600-138497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:138494600-138497200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:138494600-138497200	Weak transcription	Lung	lung
32	chr3:138494600-138497200	Weak transcription	Pancreas	Pancrea
33	chr3:138494600-138497200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:138494600-138498000	Weak transcription	Fetal Kidney	kidney
35	chr3:138494600-138498600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:138494600-138499600	Weak transcription	Fetal Thymus	thymus
37	chr3:138494600-138499800	Weak transcription	Colonic Mucosa	Colon
38	chr3:138494600-138499800	Weak transcription	Stomach Mucosa	stomach
39	chr3:138494600-138504400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr3:138494600-138510200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr3:138494600-138510200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:138494600-138510200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:138494600-138511000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:138494600-138512200	Weak transcription	Esophagus	oesophagus
45	chr3:138494600-138513000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:138494600-138513600	Weak transcription	HSMM	muscle
47	chr3:138494600-138515800	Weak transcription	Ovary	ovary
48	chr3:138494600-138518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:138494600-138521200	Weak transcription	Right Ventricle	heart
50	chr3:138494800-138499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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