Variant report

Variant	esv3331357
Chromosome Location	chr2:183807368-183807791
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	EP300	chr2:183805730-183807874	SK-N-SH	brain:	n/a	chr2:183807650-183807664 chr2:183806893-183806907 chr2:183806895-183806909 chr2:183807447-183807461 chr2:183805856-183805870 chr2:183805953-183805967 chr2:183806038-183806052 chr2:183807461-183807475
2	MXI1	chr2:183805959-183808373	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr2:183805979-183808718	K562	blood:	n/a	n/a
4	POLR2A	chr2:183807422-183807496	MCF10A-Er-Src	breast:	n/a	n/a
5	SPI1	chr2:183807563-183807744	GM12891	blood:	n/a	n/a
6	SPI1	chr2:183807538-183807760	GM12891	blood:	n/a	chr2:183807732-183807745

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183798092..183800386-chr2:183804710..183808367,3	K562	blood:
2	chr2:183805862..183807763-chr2:183903023..183904588,2	K562	blood:

Variant related genes	Relation type
NCKAP1	TF binding region
ENSG00000061676	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562909744	chr2:183807386-183807387	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544891034	chr2:183807398-183807399	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72886553	chr2:183807427-183807428	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548723033	chr2:183807435-183807436	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs77196734	chr2:183807476-183807477	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs6745341	chr2:183807592-183807593	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192948205	chr2:183807601-183807602	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547707319	chr2:183807686-183807687	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570706609	chr2:183807699-183807700	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558306377	chr2:183807756-183807757	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576778981	chr2:183807784-183807785	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:183769800-183811800	Weak transcription	Small Intestine	intestine
3	chr2:183772400-183811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
5	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
6	chr2:183775600-183833000	Weak transcription	Pancreas	Pancrea
7	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
8	chr2:183780800-183811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:183782200-183814200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:183784800-183811400	Strong transcription	Fetal Intestine Large	intestine
11	chr2:183785800-183824200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:183786400-183814200	Weak transcription	Aorta	Aorta
13	chr2:183786600-183826600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:183787000-183824000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:183788000-183830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:183788200-183845600	Weak transcription	Lung	lung
17	chr2:183788400-183809600	Strong transcription	NH-A	brain
18	chr2:183788400-183811600	Weak transcription	Right Ventricle	heart
19	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:183789400-183811600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:183789600-183812600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:183790200-183814400	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:183790800-183824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:183791200-183808600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:183792600-183811400	Weak transcription	Hela-S3	cervix
26	chr2:183793200-183811600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:183793200-183811600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:183793400-183811000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
30	chr2:183793600-183811600	Weak transcription	Psoas Muscle	Psoas
31	chr2:183793600-183814400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:183793600-183823800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:183793600-183826600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:183794600-183808200	Strong transcription	HepG2	liver
35	chr2:183795200-183824200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:183795400-183814600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:183796800-183811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:183798600-183811800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:183798600-183812000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:183798600-183814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:183799600-183811600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:183800200-183817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:183800400-183812600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:183802600-183814000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:183802800-183811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:183802800-183814400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:183802800-183817800	Weak transcription	Fetal Brain Female	brain
50	chr2:183803000-183811200	Weak transcription	Osteobl	bone

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