Variant report

Variant	esv3458705
Chromosome Location	chr2:173302491-173304471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173294248..173297165-chr2:173302746..173304421,2	MCF-7	breast:
2	chr2:173290118..173293854-chr2:173304445..173308429,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226963	chromatin interactions
ENSG00000091409	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572537862	chr2:173302494-173302495	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs539856111	chr2:173302587-173302588	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs79938309	chr2:173302630-173302631	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs532078983	chr2:173302632-173302633	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs150850053	chr2:173302657-173302658	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs527684986	chr2:173302666-173302667	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs563140844	chr2:173302783-173302784	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs530326600	chr2:173302785-173302786	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs184566080	chr2:173302822-173302823	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs139161683	chr2:173302831-173302832	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs534150241	chr2:173302866-173302867	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs78837508	chr2:173302867-173302868	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs570912071	chr2:173302872-173302873	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs538376718	chr2:173302902-173302903	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs575477230	chr2:173302921-173302922	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs549417420	chr2:173302936-173302937	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs556873885	chr2:173302939-173302940	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs61318391	chr2:173302997-173302998	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556091573	chr2:173303002-173303003	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs28485589	chr2:173303031-173303032	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs57878744	chr2:173303047-173303048	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs56892098	chr2:173303065-173303066	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs80129407	chr2:173303066-173303067	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs576859051	chr2:173303115-173303116	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs376806558	chr2:173303153-173303154	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs544342883	chr2:173303158-173303159	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs562921474	chr2:173303171-173303172	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs28540552	chr2:173303176-173303177	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs74483274	chr2:173303251-173303252	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs11885097	chr2:173303272-173303273	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189276832	chr2:173303301-173303302	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs144001318	chr2:173303302-173303303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs570904165	chr2:173303306-173303307	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs80010354	chr2:173303310-173303311	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs140629818	chr2:173303388-173303389	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs76837457	chr2:173303391-173303392	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs536416971	chr2:173303408-173303409	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs55726436	chr2:173303412-173303413	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141195656	chr2:173303485-173303486	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs182081980	chr2:173303508-173303509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs533876640	chr2:173303518-173303519	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs78181761	chr2:173303531-173303532	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs551859499	chr2:173303549-173303550	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs186045984	chr2:173303588-173303589	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs543958051	chr2:173303630-173303631	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs28703731	chr2:173303672-173303673	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574471544	chr2:173303726-173303727	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs542395427	chr2:173303741-173303742	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs112435403	chr2:173303744-173303745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs190893624	chr2:173303790-173303791	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173294200-173302600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:173294600-173302600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:173294600-173302600	Weak transcription	NH-A	brain
4	chr2:173294600-173303000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:173294600-173303400	Weak transcription	NHLF	lung
6	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
8	chr2:173295000-173303800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:173295200-173302600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:173295600-173308600	Enhancers	Fetal Intestine Large	intestine
13	chr2:173296000-173305600	Weak transcription	Fetal Lung	lung
14	chr2:173296000-173307600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:173296200-173303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:173296200-173305000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:173296200-173307600	Enhancers	Fetal Thymus	thymus
18	chr2:173296400-173303400	Weak transcription	Liver	Liver
19	chr2:173296600-173308600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:173297000-173306600	Enhancers	Small Intestine	intestine
21	chr2:173297000-173307600	Enhancers	Pancreas	Pancrea
22	chr2:173297200-173303400	Enhancers	Thymus	Thymus
23	chr2:173297200-173304800	Weak transcription	Fetal Kidney	kidney
24	chr2:173297400-173303600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:173297400-173304000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:173297600-173307400	Enhancers	Spleen	Spleen
27	chr2:173298400-173302800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:173298600-173304000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:173299200-173304000	Enhancers	Right Atrium	heart
30	chr2:173299200-173305000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr2:173299400-173302600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:173299400-173303600	Enhancers	HUVEC	blood vessel
33	chr2:173299600-173302600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:173299800-173302600	Enhancers	HSMMtube	muscle
35	chr2:173299800-173304200	Enhancers	Psoas Muscle	Psoas
36	chr2:173300000-173302600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:173300000-173302600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:173300000-173303400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:173300000-173303600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:173300000-173303800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:173300200-173302600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:173300200-173302600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:173300200-173302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:173300200-173304600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:173300200-173307600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:173300400-173302600	Enhancers	Hela-S3	cervix
47	chr2:173300400-173305000	Enhancers	Lung	lung
48	chr2:173300400-173308000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:173300600-173303000	Weak transcription	Colonic Mucosa	Colon
50	chr2:173300600-173303600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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