Variant report

Variant	esv3425271
Chromosome Location	chr6:37234374-37236422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37233393..37235941-chr6:37252690..37254296,2	K562	blood:
2	chr6:37233688..37235213-chr6:37235258..37237501,2	K562	blood:
3	chr6:37233637..37237565-chr6:37239299..37242828,5	K562	blood:
4	chr6:37233688..37235213-chr6:37235258..37237501,2	K562	blood:
5	chr6:37221803..37229301-chr6:37229686..37238425,11	K562	blood:
6	chr6:37233977..37239267-chr6:37239299..37244981,7	K562	blood:

Variant related genes	Relation type
ENSG00000172738	chromatin interactions
ENSG00000065491	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183700725	chr6:37234396-37234397	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550654338	chr6:37234445-37234446	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376802754	chr6:37234494-37234495	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113485462	chr6:37234509-37234510	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs415941	chr6:37234513-37234514	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146068855	chr6:37234516-37234517	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552904900	chr6:37234528-37234529	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190501021	chr6:37234559-37234560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73419847	chr6:37234566-37234567	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555340116	chr6:37234567-37234568	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs397887773	chr6:37234707-37234708	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35702920	chr6:37234730-37234731	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575277139	chr6:37234776-37234777	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182162790	chr6:37234867-37234868	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186778507	chr6:37234915-37234916	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141478030	chr6:37234932-37234933	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540806366	chr6:37234957-37234958	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73419848	chr6:37234970-37234971	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73419851	chr6:37235011-37235012	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs199893852	chr6:37235053-37235054	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs62406618	chr6:37235083-37235084	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs67809303	chr6:37235084-37235085	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527736144	chr6:37235086-37235087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs62406619	chr6:37235087-37235088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62406620	chr6:37235089-37235090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs70977643	chr6:37235095-37235096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141846522	chr6:37235099-37235100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201873163	chr6:37235107-37235108	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs421712	chr6:37235109-37235110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
30	rs563183191	chr6:37235126-37235127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112634477	chr6:37235128-37235129	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs9394428	chr6:37235149-37235150	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
33	rs68059341	chr6:37235161-37235162	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs61334178	chr6:37235162-37235163	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs398637	chr6:37235165-37235166	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372015342	chr6:37235170-37235171	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149734056	chr6:37235188-37235189	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570524488	chr6:37235218-37235219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111654533	chr6:37235233-37235234	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs532922746	chr6:37235239-37235240	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376923752	chr6:37235258-37235259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs202172480	chr6:37235259-37235260	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112655307	chr6:37235262-37235263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368060211	chr6:37235266-37235267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78675421	chr6:37235275-37235276	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201078123	chr6:37235276-37235277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375247598	chr6:37235279-37235280	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200385625	chr6:37235280-37235281	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546754598	chr6:37235303-37235304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201374697	chr6:37235327-37235328	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37226400-37244000	Weak transcription	Gastric	stomach
2	chr6:37226400-37247200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:37226400-37250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:37226600-37234400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:37226600-37237000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:37226600-37237400	Weak transcription	Placenta	Placenta
7	chr6:37226600-37237400	Weak transcription	HSMM	muscle
8	chr6:37226600-37240200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:37226600-37240200	Weak transcription	Aorta	Aorta
10	chr6:37226600-37243000	Weak transcription	Pancreas	Pancrea
11	chr6:37226600-37247200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:37226600-37247200	Weak transcription	Esophagus	oesophagus
13	chr6:37226600-37250000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:37226600-37259400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:37226800-37237400	Weak transcription	NHDF-Ad	bronchial
16	chr6:37226800-37247000	Weak transcription	HSMMtube	muscle
17	chr6:37227000-37236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:37227000-37237000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:37227000-37247200	Weak transcription	Right Atrium	heart
20	chr6:37227000-37250000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:37227200-37237200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:37227200-37237400	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:37227200-37238400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:37227200-37241400	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:37227200-37247200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:37227200-37247200	Weak transcription	Brain Substantia Nigra	brain
27	chr6:37227200-37247200	Weak transcription	NHLF	lung
28	chr6:37227200-37250200	Weak transcription	Brain Angular Gyrus	brain
29	chr6:37227400-37234400	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:37227400-37235600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:37227400-37235800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:37227400-37236000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:37227400-37236600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:37227400-37237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:37227400-37237000	Weak transcription	Osteobl	bone
36	chr6:37227400-37237200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:37227400-37237400	Weak transcription	NH-A	brain
38	chr6:37227400-37237600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:37227400-37238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:37227400-37238400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:37227400-37238400	Weak transcription	A549	lung
42	chr6:37227400-37239000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:37227400-37240200	Weak transcription	Psoas Muscle	Psoas
44	chr6:37227400-37240400	Weak transcription	Brain Anterior Caudate	brain
45	chr6:37227400-37241400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:37227400-37247000	Weak transcription	HMEC	breast
47	chr6:37227400-37247400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:37227400-37247600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:37227600-37237400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:37227600-37241000	Weak transcription	Fetal Kidney	kidney

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