Variant report

Variant	esv3524475
Chromosome Location	chr6:37340794-37343550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37323470..37325432-chr6:37341488..37344203,2	MCF-7	breast:
2	chr6:37341724..37343636-chr6:37392718..37394515,2	K562	blood:
3	chr6:37321016..37322876-chr6:37340772..37342424,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112130	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs195374	chr6:37340801-37340802	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557854036	chr6:37340809-37340810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577628377	chr6:37340865-37340866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540430026	chr6:37340902-37340903	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181681072	chr6:37340961-37340962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544291467	chr6:37341006-37341007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34925515	chr6:37341025-37341026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10641884	chr6:37341026-37341027	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184049886	chr6:37341094-37341095	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562421247	chr6:37341118-37341119	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531619087	chr6:37341136-37341137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551453638	chr6:37341217-37341218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs9470565	chr6:37341234-37341235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527740076	chr6:37341274-37341275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7752199	chr6:37341292-37341293	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567806347	chr6:37341308-37341309	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188737422	chr6:37341320-37341321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556922292	chr6:37341327-37341328	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570334165	chr6:37341328-37341329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs195375	chr6:37341329-37341330	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545181017	chr6:37341330-37341331	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528137927	chr6:37341343-37341344	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557427185	chr6:37341348-37341349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550963098	chr6:37341356-37341357	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7752341	chr6:37341391-37341392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs195376	chr6:37341422-37341423	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553823094	chr6:37341430-37341431	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573535001	chr6:37341478-37341479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542385462	chr6:37341479-37341480	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551092001	chr6:37341482-37341483	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374974009	chr6:37341523-37341524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575891201	chr6:37341552-37341553	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545387234	chr6:37341576-37341577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs370582730	chr6:37341579-37341580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367620863	chr6:37341613-37341614	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527673921	chr6:37341624-37341625	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs9462303	chr6:37341626-37341627	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561350124	chr6:37341628-37341629	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530342047	chr6:37341646-37341647	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149049048	chr6:37341652-37341653	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370798238	chr6:37341679-37341680	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35619116	chr6:37341686-37341687	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570374698	chr6:37341696-37341697	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180697876	chr6:37341782-37341783	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552833013	chr6:37341815-37341816	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185972335	chr6:37341847-37341848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs114469161	chr6:37341858-37341859	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs169005	chr6:37341920-37341921	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374145056	chr6:37341928-37341929	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191219653	chr6:37341973-37341974	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37323000-37351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:37323400-37349800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:37323400-37356800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:37324000-37366800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:37328000-37360800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:37328000-37361800	Strong transcription	Dnd41	blood
7	chr6:37328600-37361200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr6:37334400-37363200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:37334600-37352600	Strong transcription	Primary T cells from cord blood	blood
10	chr6:37334600-37352600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:37334600-37353000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:37334800-37340800	Strong transcription	Primary B cells from cord blood	blood
13	chr6:37335000-37341600	Strong transcription	Fetal Stomach	stomach
14	chr6:37335400-37352400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:37335600-37343800	Strong transcription	Fetal Thymus	thymus
16	chr6:37335600-37345000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr6:37335600-37351600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:37335800-37340800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:37335800-37347400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:37335800-37348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:37336000-37351600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr6:37337000-37348800	Weak transcription	NHDF-Ad	bronchial
23	chr6:37337200-37353000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:37337400-37357000	Weak transcription	Stomach Mucosa	stomach
25	chr6:37337400-37362600	Weak transcription	Psoas Muscle	Psoas
26	chr6:37337600-37341000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:37337600-37342200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:37337600-37352000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:37337600-37354000	Weak transcription	Right Ventricle	heart
30	chr6:37337600-37361000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:37337600-37363200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:37337600-37363200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:37337800-37341600	Weak transcription	Fetal Lung	lung
34	chr6:37337800-37342400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:37337800-37345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:37337800-37353000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:37338000-37344200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:37338200-37345400	Weak transcription	A549	lung
39	chr6:37338400-37342000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:37338400-37342000	Weak transcription	NH-A	brain
41	chr6:37338400-37344600	Weak transcription	Osteobl	bone
42	chr6:37338400-37348600	Weak transcription	HSMMtube	muscle
43	chr6:37338600-37349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:37338800-37341000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:37339000-37346000	Strong transcription	HepG2	liver
46	chr6:37339200-37341400	Strong transcription	Fetal Intestine Small	intestine
47	chr6:37339200-37341600	Strong transcription	Brain Hippocampus Middle	brain
48	chr6:37339200-37358400	Weak transcription	Small Intestine	intestine
49	chr6:37339200-37361000	Weak transcription	Fetal Brain Male	brain
50	chr6:37339400-37342200	Weak transcription	HMEC	breast

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