Variant report

Variant	esv3463445
Chromosome Location	chr3:101251401-101254079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101249370..101250910-chr3:101251294..101253449,2	K562	blood:
2	chr3:101251480..101254099-chr3:101272638..101274456,2	K562	blood:
3	chr3:101251684..101253784-chr3:101277583..101280668,3	K562	blood:
4	chr3:101251094..101253356-chr3:101294700..101296293,2	K562	blood:
5	chr3:101251061..101253475-chr3:101292374..101293886,2	K562	blood:
6	chr3:101241908..101244826-chr3:101250601..101253357,3	K562	blood:

Variant related genes	Relation type
ENSG00000242299	chromatin interactions
ENSG00000081154	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75090234	chr3:101251408-101251409	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs191990386	chr3:101251432-101251433	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184686371	chr3:101251451-101251452	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371678901	chr3:101251574-101251575	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145260567	chr3:101251592-101251593	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572695259	chr3:101251609-101251610	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540075068	chr3:101251620-101251621	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561550537	chr3:101251635-101251636	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs559227128	chr3:101251643-101251644	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529126180	chr3:101251678-101251679	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550618955	chr3:101251733-101251734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188249593	chr3:101251761-101251762	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375007185	chr3:101251793-101251794	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562489327	chr3:101251807-101251808	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577388415	chr3:101251811-101251812	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4615055	chr3:101251830-101251831	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs72946028	chr3:101251853-101251854	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs76984743	chr3:101251863-101251864	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs137943931	chr3:101251868-101251869	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533881929	chr3:101251881-101251882	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369220170	chr3:101251924-101251925	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541581987	chr3:101251969-101251970	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149054117	chr3:101251972-101251973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs538496448	chr3:101251976-101251977	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1609158	chr3:101252011-101252012	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs375733216	chr3:101252022-101252023	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143105545	chr3:101252023-101252024	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116753797	chr3:101252027-101252028	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192761901	chr3:101252076-101252077	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572162986	chr3:101252096-101252097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1405781	chr3:101252103-101252104	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148244597	chr3:101252151-101252152	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1609157	chr3:101252173-101252174	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs566192702	chr3:101252191-101252192	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562687243	chr3:101252217-101252218	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532933901	chr3:101252222-101252223	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184406489	chr3:101252245-101252246	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560192688	chr3:101252252-101252253	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142811703	chr3:101252285-101252286	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549113657	chr3:101252297-101252298	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77391593	chr3:101252301-101252302	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564784423	chr3:101252310-101252311	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531836161	chr3:101252320-101252321	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189040611	chr3:101252413-101252414	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs116119056	chr3:101252444-101252445	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7634759	chr3:101252514-101252515	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs572050722	chr3:101252564-101252565	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147418282	chr3:101252567-101252568	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547052296	chr3:101252598-101252599	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs180992276	chr3:101252600-101252601	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101239200-101252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:101247600-101251800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:101248000-101251800	Enhancers	Primary T cells from cord blood	blood
4	chr3:101248200-101251800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:101248200-101252000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:101248400-101251600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:101249400-101252800	Enhancers	HUVEC	blood vessel
8	chr3:101249600-101254000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:101250000-101251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:101250000-101252000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:101250200-101253200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:101250400-101252200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:101250400-101253000	Enhancers	NHEK	skin
14	chr3:101250600-101252000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:101250600-101253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:101250800-101251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:101251000-101252400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:101251000-101252800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:101251200-101252200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:101251200-101252200	Enhancers	HMEC	breast
21	chr3:101251200-101252400	Flanking Active TSS	K562	blood
22	chr3:101251400-101252200	Enhancers	Placenta	Placenta
23	chr3:101251600-101251800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:101251600-101253600	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:101251800-101252800	Enhancers	Fetal Heart	heart
26	chr3:101251800-101253200	Enhancers	Colon Smooth Muscle	Colon
27	chr3:101251800-101253600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:101251800-101260800	Weak transcription	Primary T cells from cord blood	blood
29	chr3:101252000-101252800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:101252000-101252800	Enhancers	Psoas Muscle	Psoas
31	chr3:101252000-101253200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:101252000-101253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:101252200-101252400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:101252200-101253200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:101252200-101254800	Weak transcription	Placenta	Placenta
36	chr3:101252400-101254200	Enhancers	K562	blood
37	chr3:101252800-101253000	Bivalent Enhancer	Osteobl	bone
38	chr3:101252800-101253600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:101252800-101254800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:101253000-101253200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:101253600-101253800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:101253600-101253800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:101253800-101255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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