Variant report

Variant	esv3359883
Chromosome Location	chr3:88203464-88204048
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	POLR2A	chr3:88203999-88204137	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:88203924-88203968	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:88197032..88201570-chr3:88203720..88209497,8	K562	blood:
2	chr3:88197769..88200999-chr3:88203234..88208947,7	MCF-7	breast:
3	chr3:88202522..88205546-chr3:88205553..88208457,3	K562	blood:
4	chr3:88202522..88204345-chr3:88205690..88208457,2	K562	blood:

Variant related genes	Relation type
C3orf38	TF binding region
CGGBP1	TF binding region
ENSG00000163320	chromatin interactions
ENSG00000179021	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35471442	chr3:88203525-88203526	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs397747164	chr3:88203537-88203538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545129971	chr3:88203548-88203549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529549633	chr3:88203574-88203575	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9865703	chr3:88203576-88203577	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs9865710	chr3:88203586-88203587	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs542667209	chr3:88203591-88203592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561594983	chr3:88203599-88203600	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9865578	chr3:88203627-88203628	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs540800475	chr3:88203632-88203633	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs565513960	chr3:88203658-88203659	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532236115	chr3:88203708-88203709	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551817489	chr3:88203709-88203710	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550741950	chr3:88203730-88203731	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562573191	chr3:88203749-88203750	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529651275	chr3:88203804-88203805	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs193121432	chr3:88203819-88203820	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185150712	chr3:88203851-88203852	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75362180	chr3:88203881-88203882	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551935170	chr3:88203927-88203928	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs190027986	chr3:88203932-88203933	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs375561421	chr3:88203935-88203936	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs537656067	chr3:88204004-88204005	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs78848403	chr3:88204026-88204027	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs77979301	chr3:88204028-88204029	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
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
Acute lymphoblastic leukemia	20435627	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88199600-88203800	Weak transcription	Spleen	Spleen
2	chr3:88199800-88204000	Weak transcription	Gastric	stomach
3	chr3:88199800-88216800	Weak transcription	Esophagus	oesophagus
4	chr3:88200000-88203800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:88200200-88205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:88200800-88204000	Weak transcription	Fetal Intestine Small	intestine
7	chr3:88200800-88204000	Weak transcription	Ovary	ovary
8	chr3:88200800-88204800	Weak transcription	Right Ventricle	heart
9	chr3:88200800-88205200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:88200800-88209400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:88200800-88214600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:88200800-88218000	Weak transcription	Pancreas	Pancrea
13	chr3:88200800-88221600	Weak transcription	Psoas Muscle	Psoas
14	chr3:88200800-88224400	Weak transcription	Aorta	Aorta
15	chr3:88201000-88203600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:88201000-88203600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr3:88201000-88205200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:88201200-88203600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:88201200-88203600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:88201200-88203800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:88201200-88203800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:88201200-88204200	Weak transcription	NHLF	lung
23	chr3:88201200-88204800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:88201200-88205200	Weak transcription	Brain Angular Gyrus	brain
25	chr3:88201200-88205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:88201200-88205200	Weak transcription	HSMMtube	muscle
27	chr3:88201200-88205200	Weak transcription	K562	blood
28	chr3:88201200-88205400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:88201200-88205800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:88201200-88206400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:88201200-88209600	Weak transcription	Stomach Mucosa	stomach
32	chr3:88201400-88203600	Weak transcription	HUVEC	blood vessel
33	chr3:88201400-88203600	Weak transcription	NHDF-Ad	bronchial
34	chr3:88201400-88203800	Weak transcription	Brain Substantia Nigra	brain
35	chr3:88201400-88203800	Weak transcription	HepG2	liver
36	chr3:88201400-88205000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:88201400-88205000	Weak transcription	Hela-S3	cervix
38	chr3:88201400-88205200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:88201400-88212200	Weak transcription	Colonic Mucosa	Colon
40	chr3:88202000-88203800	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:88202000-88204800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:88202000-88205600	Weak transcription	Fetal Heart	heart
43	chr3:88202000-88206400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:88202000-88208200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:88202000-88208400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:88202000-88210200	Strong transcription	Placenta	Placenta
47	chr3:88202000-88211400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:88202200-88206000	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:88202200-88208200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:88202200-88208200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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