Variant report

Variant	esv3435549
Chromosome Location	chr6:33624674-33628572
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33623872..33628631-chr6:33630927..33635524,5	K562	blood:
2	chr6:33598960..33600739-chr6:33624531..33626836,2	K562	blood:
3	chr6:33625809..33628481-chr6:33628600..33630329,2	K562	blood:
4	chr6:33626651..33628941-chr6:33628944..33631916,2	MCF-7	breast:
5	chr6:33627824..33631151-chr6:33635216..33637671,3	MCF-7	breast:
6	chr6:33606446..33608030-chr6:33621770..33624692,2	K562	blood:
7	chr6:33626128..33628558-chr6:33646495..33648052,2	K562	blood:
8	chr6:33625658..33632208-chr6:33632440..33635133,7	MCF-7	breast:

No data

Extended variants
information (count: 183 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs999943	chr6:33624733-33624734	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs76943689	chr6:33624760-33624761	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs571592399	chr6:33624799-33624800	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs545879150	chr6:33624816-33624817	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs79813940	chr6:33624818-33624819	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs116186980	chr6:33624848-33624849	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs533741291	chr6:33624861-33624862	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs116222894	chr6:33624862-33624863	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs374884482	chr6:33624895-33624896	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs999942	chr6:33624902-33624903	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544267763	chr6:33624921-33624922	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs189710916	chr6:33624927-33624928	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs577551409	chr6:33624971-33624972	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs138286817	chr6:33624974-33624975	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs550140281	chr6:33624988-33624989	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs560838856	chr6:33625010-33625011	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs571544785	chr6:33625058-33625059	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs142878815	chr6:33625074-33625075	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs10080540	chr6:33625182-33625183	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561435058	chr6:33625230-33625231	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs531868220	chr6:33625249-33625250	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs376125125	chr6:33625311-33625312	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs368192772	chr6:33625346-33625347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs3804550	chr6:33625385-33625386	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547427468	chr6:33625387-33625388	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs79217250	chr6:33625388-33625389	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs536351609	chr6:33625397-33625398	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs533801169	chr6:33625404-33625405	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs140027672	chr6:33625416-33625417	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs554243306	chr6:33625470-33625471	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs567102362	chr6:33625473-33625474	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs537579155	chr6:33625475-33625476	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs372169367	chr6:33625560-33625561	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs577614233	chr6:33625591-33625592	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs528211739	chr6:33625593-33625594	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs530714835	chr6:33625595-33625596	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs3831079	chr6:33625601-33625602	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs374380070	chr6:33625608-33625609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs113761020	chr6:33625610-33625611	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs556464598	chr6:33625627-33625628	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs544995573	chr6:33625628-33625629	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs372392252	chr6:33625634-33625635	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs553764730	chr6:33625664-33625665	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs2274200	chr6:33625696-33625697	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs376628421	chr6:33625713-33625714	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs138371134	chr6:33625716-33625717	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs142845743	chr6:33625735-33625736	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs200213977	chr6:33625743-33625744	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs543316860	chr6:33625771-33625772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs372548498	chr6:33625819-33625820	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
abnormal development	18461090	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
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33602400-33636400	Weak transcription	HSMMtube	muscle
2	chr6:33602600-33625400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33602600-33625800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:33602600-33631600	Weak transcription	Osteobl	bone
5	chr6:33603000-33628600	Weak transcription	Primary B cells from cord blood	blood
6	chr6:33603400-33626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
8	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:33605000-33625400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:33605200-33636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:33606600-33633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:33606800-33626200	Weak transcription	A549	lung
13	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:33608200-33640800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:33610400-33626000	Weak transcription	K562	blood
16	chr6:33611400-33626800	Weak transcription	Right Ventricle	heart
17	chr6:33611400-33643400	Weak transcription	Left Ventricle	heart
18	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
19	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
20	chr6:33613400-33635400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:33613600-33635000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:33614400-33636200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
24	chr6:33615600-33626000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:33616600-33631400	Weak transcription	GM12878-XiMat	blood
26	chr6:33617200-33629200	Strong transcription	Hela-S3	cervix
27	chr6:33619000-33632800	Strong transcription	NHEK	skin
28	chr6:33619400-33629600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:33619600-33628400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr6:33620000-33632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:33621000-33629200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr6:33621200-33636200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr6:33621200-33636400	Strong transcription	Primary T cells from cord blood	blood
36	chr6:33621200-33636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:33621400-33628000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:33621400-33635800	Strong transcription	Colonic Mucosa	Colon
39	chr6:33621400-33636400	Strong transcription	Lung	lung
40	chr6:33621400-33643400	Strong transcription	Spleen	Spleen
41	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:33621400-33672600	Strong transcription	Dnd41	blood
43	chr6:33622000-33624800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:33622200-33630000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:33622400-33629200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:33622400-33629400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:33622400-33644400	Strong transcription	Gastric	stomach
49	chr6:33622600-33624800	Enhancers	Brain Germinal Matrix	brain
50	chr6:33622600-33628000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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