Variant report

Variant	esv1797588
Chromosome Location	chr6:34310476-34319041
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34303920..34306349-chr6:34307899..34311010,3	K562	blood:
2	chr6:34305147..34308643-chr6:34314207..34316952,4	K562	blood:
3	chr6:34307128..34308911-chr6:34309143..34310713,2	K562	blood:
4	chr6:34311894..34313491-chr6:34319028..34320786,2	K562	blood:
5	chr6:34314465..34317126-chr6:34317621..34320996,4	K562	blood:
6	chr6:34318109..34321086-chr6:34360029..34361626,2	MCF-7	breast:
7	chr6:34309301..34312552-chr6:34312659..34315940,4	K562	blood:
8	chr6:34299992..34302647-chr6:34315891..34318733,2	MCF-7	breast:
9	chr6:34238995..34241541-chr6:34307534..34310949,3	K562	blood:
10	chr6:34308267..34311502-chr6:34313780..34316538,3	K562	blood:
11	chr6:34214571..34216737-chr6:34309233..34311711,2	K562	blood:
12	chr6:34305250..34307284-chr6:34307723..34310637,2	MCF-7	breast:
13	chr6:34311894..34313491-chr6:34319028..34320786,2	K562	blood:
14	chr6:34308267..34311502-chr6:34313780..34316538,3	K562	blood:
15	chr6:34309301..34312552-chr6:34312659..34315940,4	K562	blood:
16	chr6:34303886..34306765-chr6:34314497..34316952,3	K562	blood:
17	chr6:34305355..34307280-chr6:34313931..34315752,2	MCF-7	breast:
18	chr6:34314465..34317126-chr6:34317621..34320996,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HMGA1-6	chr6:34316007-34316342	expReg_chr6_3780_+
2	lnc-HMGA1-5	chr6:34314112-34314529	expReg_chr6_3777_+

No data

Variant related genes	Relation type
ENSG00000272325	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3798557	chr6:34310476-34310477	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151287487	chr6:34310507-34310508	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545243118	chr6:34310555-34310556	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190680636	chr6:34310560-34310561	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180746899	chr6:34310634-34310635	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114652794	chr6:34310677-34310678	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562161748	chr6:34310689-34310690	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186189521	chr6:34310695-34310696	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188477795	chr6:34310712-34310713	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560865104	chr6:34310825-34310826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569015037	chr6:34310842-34310843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547787373	chr6:34310878-34310879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181316971	chr6:34310912-34310913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115313157	chr6:34310937-34310938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185845394	chr6:34310958-34310959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567907973	chr6:34310998-34310999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140553982	chr6:34311009-34311010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556165464	chr6:34311037-34311038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577826762	chr6:34311058-34311059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150104766	chr6:34311073-34311074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371036237	chr6:34311110-34311111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71567441	chr6:34311153-34311154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs395201	chr6:34311160-34311161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527544334	chr6:34311163-34311164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571227862	chr6:34311164-34311165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567628095	chr6:34311176-34311177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71567442	chr6:34311241-34311242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572146199	chr6:34311269-34311270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542950799	chr6:34311278-34311279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561038521	chr6:34311297-34311298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576242963	chr6:34311309-34311310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527251484	chr6:34311318-34311319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35748626	chr6:34311319-34311320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190314400	chr6:34311322-34311323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562509773	chr6:34311393-34311394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7752035	chr6:34311414-34311415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551440607	chr6:34311454-34311455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78435130	chr6:34311468-34311469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527888973	chr6:34311470-34311471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549507507	chr6:34311498-34311499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138742956	chr6:34311512-34311513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538494207	chr6:34311562-34311563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142685251	chr6:34311625-34311626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533926595	chr6:34311633-34311634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146939634	chr6:34311646-34311647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138196895	chr6:34311654-34311655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149548679	chr6:34311714-34311715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572068497	chr6:34311731-34311732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536063499	chr6:34311784-34311785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554724170	chr6:34311788-34311789	Weak transcription Enhancers	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34284800-34310800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
4	chr6:34285800-34326600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:34289000-34325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:34297400-34312800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:34298600-34326400	Weak transcription	A549	lung
8	chr6:34299400-34310800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:34301600-34318000	Weak transcription	Fetal Brain Female	brain
10	chr6:34303000-34312800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:34304600-34310600	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:34305000-34310600	Enhancers	Fetal Heart	heart
13	chr6:34305400-34311200	Enhancers	Psoas Muscle	Psoas
14	chr6:34306000-34313800	Weak transcription	NHEK	skin
15	chr6:34306000-34327800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:34306000-34328800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:34306200-34311000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:34306400-34310800	Strong transcription	Primary T cells from cord blood	blood
19	chr6:34306400-34310800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:34306600-34310600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:34306600-34312200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:34307000-34311000	Weak transcription	Spleen	Spleen
23	chr6:34307000-34312400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:34307000-34320000	Weak transcription	Ovary	ovary
25	chr6:34307400-34314200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:34307600-34310800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:34308000-34310800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr6:34308200-34310600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:34308400-34310800	Enhancers	Brain Substantia Nigra	brain
30	chr6:34308400-34312400	Enhancers	HUVEC	blood vessel
31	chr6:34308600-34310800	Enhancers	Brain Anterior Caudate	brain
32	chr6:34308800-34310600	Enhancers	Fetal Kidney	kidney
33	chr6:34308800-34313600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:34308800-34330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:34309000-34311800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr6:34309200-34310600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:34309200-34315800	Weak transcription	Placenta	Placenta
38	chr6:34309200-34318200	Weak transcription	Fetal Lung	lung
39	chr6:34309400-34310800	Enhancers	Right Atrium	heart
40	chr6:34309400-34310800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:34309400-34311400	Enhancers	Left Ventricle	heart
42	chr6:34309400-34312000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:34309400-34317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:34309400-34317800	Weak transcription	Brain Germinal Matrix	brain
45	chr6:34309600-34310800	Strong transcription	K562	blood
46	chr6:34309600-34311200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:34309600-34311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:34309600-34314800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:34309600-34317200	Weak transcription	NHDF-Ad	bronchial
50	chr6:34309600-34319800	Weak transcription	Small Intestine	intestine

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