Variant report

Variant	esv3367342
Chromosome Location	chr6:36475647-36475924
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36474397..36477191-chr6:36544292..36546123,2	MCF-7	breast:
2	chr6:36474628..36477147-chr6:36484775..36487210,3	K562	blood:
3	chr6:36472144..36476208-chr6:36480337..36484283,3	MCF-7	breast:
4	chr6:36409564..36413749-chr6:36473812..36477926,5	K562	blood:
5	chr6:36470157..36472950-chr6:36474808..36477426,3	K562	blood:
6	chr6:36475084..36480133-chr6:36561035..36564418,5	MCF-7	breast:
7	chr6:36470331..36472950-chr6:36474034..36477426,3	K562	blood:
8	chr6:36464672..36468540-chr6:36473344..36476121,3	K562	blood:
9	chr6:36410776..36413749-chr6:36473812..36476738,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112081	chromatin interactions
ENSG00000179165	chromatin interactions
ENSG00000112078	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571792915	chr6:36475678-36475679	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs534029748	chr6:36475683-36475684	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs35789250	chr6:36475707-36475708	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs538898915	chr6:36475769-36475770	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554231642	chr6:36475787-36475788	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs138607801	chr6:36475794-36475795	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs543147458	chr6:36475795-36475796	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552094608	chr6:36475796-36475797	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190240584	chr6:36475839-36475840	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs576520464	chr6:36475847-36475848	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs11756413	chr6:36475854-36475855	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs149291335	chr6:36475867-36475868	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565059831	chr6:36475868-36475869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs576951219	chr6:36475877-36475878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs144759612	chr6:36475911-36475912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36411600-36476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:36430800-36488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:36437800-36477600	Strong transcription	Fetal Thymus	thymus
4	chr6:36447200-36477600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:36447400-36477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:36450000-36479800	Weak transcription	Stomach Mucosa	stomach
7	chr6:36455200-36476400	Weak transcription	Pancreas	Pancrea
8	chr6:36456400-36512600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:36457400-36484400	Weak transcription	Right Atrium	heart
10	chr6:36461400-36481400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:36461600-36476400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:36462200-36477800	Strong transcription	Primary hematopoietic stem cells	blood
13	chr6:36462600-36477400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:36463000-36507200	Weak transcription	Fetal Brain Male	brain
15	chr6:36463600-36476400	Weak transcription	Brain Angular Gyrus	brain
16	chr6:36463600-36493600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:36463800-36478000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:36463800-36493400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr6:36463800-36513600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:36464200-36477600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:36465200-36477800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:36465400-36477400	Weak transcription	NHEK	skin
23	chr6:36465400-36477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:36465400-36477600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:36465600-36489800	Weak transcription	Psoas Muscle	Psoas
26	chr6:36467400-36476200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:36467800-36476400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:36467800-36477800	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:36467800-36479800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:36468000-36476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:36468000-36476400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:36468000-36476400	Weak transcription	Esophagus	oesophagus
33	chr6:36468000-36476400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:36468000-36476400	Weak transcription	Fetal Brain Female	brain
35	chr6:36468000-36476400	Weak transcription	Gastric	stomach
36	chr6:36468000-36476400	Weak transcription	Lung	lung
37	chr6:36468000-36476400	Weak transcription	Ovary	ovary
38	chr6:36468000-36476400	Weak transcription	NHLF	lung
39	chr6:36468000-36476600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:36468000-36477600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:36468000-36482400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:36468000-36487000	Weak transcription	Aorta	Aorta
43	chr6:36469000-36482400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:36469400-36477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:36469400-36477200	Strong transcription	Primary B cells from cord blood	blood
46	chr6:36469600-36476400	Weak transcription	Fetal Stomach	stomach
47	chr6:36469600-36479000	Strong transcription	HSMM	muscle
48	chr6:36470400-36476000	Enhancers	Fetal Intestine Small	intestine
49	chr6:36470400-36477600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:36470400-36480400	Strong transcription	Fetal Lung	lung

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