Variant report

Variant	esv1803417
Chromosome Location	chr2:100898843-100901948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100901321..100904489-chr2:100937079..100940896,4	K562	blood:
2	chr2:100895235..100899399-chr2:100936905..100939740,4	K562	blood:
3	chr2:100898902..100903882-chr2:100937164..100940384,5	K562	blood:
4	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:
5	chr2:100885913..100887573-chr2:100900551..100902745,2	MCF-7	breast:
6	chr2:100900624..100902908-chr2:100926572..100928949,2	K562	blood:
7	chr2:100889953..100892451-chr2:100898543..100901501,2	K562	blood:
8	chr2:100893699..100897169-chr2:100899587..100903259,4	MCF-7	breast:
9	chr2:100898914..100902025-chr2:100905240..100908498,4	K562	blood:
10	chr2:100899535..100901575-chr2:100909309..100912532,4	K562	blood:
11	chr2:100901888..100904596-chr2:100917454..100919195,2	MCF-7	breast:
12	chr2:100896929..100899724-chr2:100932462..100934829,2	K562	blood:
13	chr2:100889062..100891590-chr2:100897869..100900179,3	MCF-7	breast:
14	chr2:100899904..100902049-chr2:100905523..100907621,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170500	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572159877	chr2:100898856-100898857	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140538043	chr2:100898884-100898885	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190830714	chr2:100898938-100898939	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534221508	chr2:100898952-100898953	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554126269	chr2:100899093-100899094	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540409230	chr2:100899096-100899097	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577478462	chr2:100899099-100899100	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144384093	chr2:100899135-100899136	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556386209	chr2:100899181-100899182	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565186950	chr2:100899201-100899202	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182756344	chr2:100899230-100899231	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144796684	chr2:100899254-100899255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs77171011	chr2:100899259-100899260	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573672980	chr2:100899260-100899261	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59752280	chr2:100899293-100899294	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs57658912	chr2:100899308-100899309	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs59565766	chr2:100899313-100899314	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200350587	chr2:100899327-100899328	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201369704	chr2:100899328-100899329	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576293601	chr2:100899357-100899358	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541560338	chr2:100899367-100899368	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561467609	chr2:100899479-100899480	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188970726	chr2:100899480-100899481	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541029525	chr2:100899496-100899497	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532623177	chr2:100899514-100899515	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193246395	chr2:100899580-100899581	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533302400	chr2:100899603-100899604	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543386123	chr2:100899651-100899652	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549977914	chr2:100899662-100899663	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2309819	chr2:100899665-100899666	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs2309820	chr2:100899676-100899677	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371052164	chr2:100899725-100899726	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151278500	chr2:100899848-100899849	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375610338	chr2:100899882-100899883	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547052295	chr2:100899931-100899932	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184558597	chr2:100899951-100899952	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13417406	chr2:100899968-100899969	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547811344	chr2:100899989-100899990	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201889012	chr2:100900035-100900036	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199554311	chr2:100900036-100900037	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571053890	chr2:100900037-100900038	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200670206	chr2:100900038-100900039	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs66904155	chr2:100900039-100900040	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs71783933	chr2:100900048-100900049	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397776184	chr2:100900054-100900055	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540155086	chr2:100900097-100900098	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556324227	chr2:100900111-100900112	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371913645	chr2:100900183-100900184	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569885568	chr2:100900207-100900208	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187394211	chr2:100900265-100900266	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100879400-100900200	Weak transcription	Brain Substantia Nigra	brain
2	chr2:100884200-100900200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:100887000-100900200	Weak transcription	Left Ventricle	heart
5	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:100889400-100900200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:100890600-100900200	Weak transcription	Right Ventricle	heart
8	chr2:100891400-100900000	Weak transcription	Aorta	Aorta
9	chr2:100891800-100900200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:100891800-100907600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:100892000-100902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:100892000-100904000	Weak transcription	Gastric	stomach
13	chr2:100892200-100900200	Weak transcription	Pancreas	Pancrea
14	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:100892400-100900600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:100894400-100900400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:100895600-100900200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:100896600-100899000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:100896600-100900000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:100896600-100907000	Weak transcription	Spleen	Spleen
21	chr2:100896600-100907600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:100897400-100899000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:100897400-100899000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:100897600-100899000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:100897600-100899000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:100897600-100903600	Enhancers	Dnd41	blood
27	chr2:100898000-100899000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:100898200-100899000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:100898400-100899000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:100898400-100899000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:100898400-100899000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:100898400-100899000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:100898400-100899400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100898400-100900000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:100898400-100900400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:100898400-100902000	Weak transcription	Fetal Stomach	stomach
37	chr2:100898400-100906800	Weak transcription	Placenta	Placenta
38	chr2:100898400-100908200	Weak transcription	Fetal Lung	lung
39	chr2:100898400-100915600	Weak transcription	Right Atrium	heart
40	chr2:100898600-100899000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:100898600-100899000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:100898600-100900000	Weak transcription	Fetal Brain Male	brain
43	chr2:100898600-100900200	Weak transcription	Brain Germinal Matrix	brain
44	chr2:100898600-100900200	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:100898600-100900200	Weak transcription	Fetal Brain Female	brain
46	chr2:100898600-100900200	Weak transcription	Ovary	ovary
47	chr2:100898600-100901000	Genic enhancers	K562	blood
48	chr2:100898600-100901600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:100898600-100902200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:100898600-100902600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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