Variant report

Variant	esv3348788
Chromosome Location	chr3:121364112-121366860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:121366381-121366573	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr3:121366603-121366779	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF274	chr3:121364684-121365358	K562	blood:	n/a	n/a

Variant related genes	Relation type
HCLS1	TF binding region

Extended variants
information (count: 125 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368538744	chr3:121364125-121364126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546269380	chr3:121364157-121364158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190565336	chr3:121364161-121364162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558532035	chr3:121364169-121364170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1919550	chr3:121364173-121364174	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182177699	chr3:121364205-121364206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144499613	chr3:121364219-121364220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114010868	chr3:121364225-121364226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9873644	chr3:121364236-121364237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs9873648	chr3:121364251-121364252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs200000017	chr3:121364299-121364300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34917887	chr3:121364311-121364312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573199755	chr3:121364333-121364334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148442474	chr3:121364336-121364337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564883421	chr3:121364360-121364361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530569246	chr3:121364444-121364445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543970193	chr3:121364446-121364447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547389142	chr3:121364462-121364463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530198200	chr3:121364463-121364464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7429247	chr3:121364487-121364488	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs566776576	chr3:121364525-121364526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568984183	chr3:121364604-121364605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532675527	chr3:121364612-121364613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552489208	chr3:121364616-121364617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7427165	chr3:121364624-121364625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs369453761	chr3:121364656-121364657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185763548	chr3:121364675-121364676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554751479	chr3:121364697-121364698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564350192	chr3:121364761-121364762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs13090660	chr3:121364780-121364781	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs10677529	chr3:121364998-121364999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs35691635	chr3:121364999-121365000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs59424510	chr3:121365003-121365004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370446441	chr3:121365004-121365005	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs372783966	chr3:121365005-121365006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375975877	chr3:121365013-121365014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs188960129	chr3:121365119-121365120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs61720711	chr3:121365198-121365199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs370624675	chr3:121365199-121365200	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs61720712	chr3:121365201-121365202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374263565	chr3:121365206-121365207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372065267	chr3:121365209-121365210	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs61724320	chr3:121365211-121365212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376015693	chr3:121365213-121365214	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs56651751	chr3:121365214-121365215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs61720713	chr3:121365218-121365219	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs546867872	chr3:121365219-121365220	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs61720714	chr3:121365225-121365226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs377471422	chr3:121365234-121365235	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369880530	chr3:121365239-121365240	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
2	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart
3	chr3:121347200-121364400	Strong transcription	Primary B cells from cord blood	blood
4	chr3:121347400-121367200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:121347600-121364600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:121347600-121364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:121347600-121364600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:121347800-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:121348000-121364600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr3:121348000-121364600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
12	chr3:121348200-121364600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:121348400-121364600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:121348400-121364600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:121348800-121364400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:121348800-121367200	Weak transcription	Pancreas	Pancrea
17	chr3:121349000-121364600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:121349000-121364600	Strong transcription	Dnd41	blood
19	chr3:121349000-121378000	Weak transcription	Fetal Stomach	stomach
20	chr3:121349200-121364200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:121349400-121364600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:121349400-121367000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:121349600-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:121349800-121367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:121350000-121364600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:121350000-121364600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:121351000-121364600	Strong transcription	GM12878-XiMat	blood
28	chr3:121351000-121382800	Weak transcription	Small Intestine	intestine
29	chr3:121351400-121381400	Weak transcription	Gastric	stomach
30	chr3:121351800-121370400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:121353400-121364400	Strong transcription	Fetal Thymus	thymus
32	chr3:121353400-121376000	Weak transcription	Lung	lung
33	chr3:121354000-121381000	Weak transcription	Fetal Intestine Small	intestine
34	chr3:121355600-121367000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:121356000-121370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:121356200-121378200	Weak transcription	Colonic Mucosa	Colon
37	chr3:121356800-121379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:121360200-121364200	Strong transcription	Adipose Nuclei	Adipose
39	chr3:121360200-121364600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:121360200-121364600	Strong transcription	Placenta	Placenta
41	chr3:121360600-121364600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr3:121361200-121364600	Strong transcription	Primary T cells from cord blood	blood
43	chr3:121361200-121364600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:121361400-121364200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:121361400-121364200	Strong transcription	Thymus	Thymus
46	chr3:121361400-121364200	Strong transcription	Spleen	Spleen
47	chr3:121361400-121364600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr3:121361600-121364600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:121361800-121364600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:121361800-121364600	Strong transcription	HUVEC	blood vessel

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