Variant report

Variant	esv2651912
Chromosome Location	chr6:36859625-36861183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36853116..36855901-chr6:36858200..36860553,3	MCF-7	breast:
2	chr6:36859467..36861214-chr6:36946657..36948783,2	MCF-7	breast:
3	chr6:36852175..36855710-chr6:36855896..36859725,4	MCF-7	breast:
4	chr6:36860505..36863428-chr6:36870664..36872408,2	MCF-7	breast:
5	chr6:36841645..36844548-chr6:36858446..36860407,2	K562	blood:
6	chr6:36857089..36859522-chr6:36861132..36864620,3	K562	blood:
7	chr6:36859021..36864358-chr6:36952408..36957511,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198663	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000137168	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552676713	chr6:36859654-36859655	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs10456446	chr6:36859683-36859684	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs528481196	chr6:36859698-36859699	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs546903648	chr6:36859714-36859715	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs202152076	chr6:36859722-36859723	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs183488199	chr6:36859727-36859728	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs16889250	chr6:36859737-36859738	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550502485	chr6:36859764-36859765	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs149276101	chr6:36859772-36859773	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539160721	chr6:36859826-36859827	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs74799337	chr6:36859929-36859930	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs144765831	chr6:36859977-36859978	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs17623221	chr6:36859980-36859981	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538319636	chr6:36859991-36859992	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs553669828	chr6:36859998-36859999	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs575040938	chr6:36860014-36860015	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs537971655	chr6:36860032-36860033	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557937413	chr6:36860049-36860050	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201611224	chr6:36860067-36860068	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12213912	chr6:36860092-36860093	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs557609923	chr6:36860101-36860102	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs12194154	chr6:36860117-36860118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546354209	chr6:36860147-36860148	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs564551920	chr6:36860155-36860156	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs34405617	chr6:36860249-36860250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs540259913	chr6:36860254-36860255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs562064922	chr6:36860292-36860293	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs148561239	chr6:36860326-36860327	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs550815121	chr6:36860387-36860388	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs568743564	chr6:36860433-36860434	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs16889252	chr6:36860434-36860435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs373504608	chr6:36860450-36860451	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551106752	chr6:36860467-36860468	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566220487	chr6:36860478-36860479	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533843386	chr6:36860479-36860480	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543302153	chr6:36860533-36860534	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555072158	chr6:36860587-36860588	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567225442	chr6:36860661-36860662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117934163	chr6:36860672-36860673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73732039	chr6:36860684-36860685	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147323626	chr6:36860703-36860704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs578240493	chr6:36860714-36860715	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573804662	chr6:36860715-36860716	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78560972	chr6:36860729-36860730	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111401821	chr6:36860734-36860735	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559138775	chr6:36860739-36860740	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71569356	chr6:36860750-36860751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs370363912	chr6:36860811-36860812	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141511445	chr6:36860820-36860821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113216608	chr6:36860821-36860822	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36854200-36860200	Weak transcription	Spleen	Spleen
2	chr6:36854200-36862200	Weak transcription	Lung	lung
3	chr6:36854200-36868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:36854200-36873600	Weak transcription	Aorta	Aorta
5	chr6:36854200-36881000	Weak transcription	Gastric	stomach
6	chr6:36854200-36887400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:36854400-36860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:36854400-36868400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:36854400-36893000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:36854600-36859800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:36854600-36869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:36854600-36870000	Weak transcription	Stomach Mucosa	stomach
13	chr6:36854800-36860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:36854800-36860000	Weak transcription	Fetal Stomach	stomach
15	chr6:36854800-36861400	Weak transcription	Placenta	Placenta
16	chr6:36854800-36866600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:36854800-36868400	Weak transcription	Brain Germinal Matrix	brain
18	chr6:36854800-36870000	Weak transcription	Colonic Mucosa	Colon
19	chr6:36854800-36875200	Weak transcription	Esophagus	oesophagus
20	chr6:36854800-36881000	Weak transcription	A549	lung
21	chr6:36854800-36882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:36854800-36884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:36855000-36859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:36855000-36859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:36855000-36859800	Weak transcription	Fetal Intestine Small	intestine
26	chr6:36855000-36859800	Weak transcription	Osteobl	bone
27	chr6:36855000-36860000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:36855000-36860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:36855000-36860000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:36855000-36860000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:36855000-36862000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:36855000-36862200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:36855000-36862200	Weak transcription	Fetal Intestine Large	intestine
34	chr6:36855000-36862200	Weak transcription	HMEC	breast
35	chr6:36855000-36862200	Weak transcription	HSMM	muscle
36	chr6:36855000-36862200	Weak transcription	HSMMtube	muscle
37	chr6:36855000-36866600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:36855000-36866600	Weak transcription	HUVEC	blood vessel
39	chr6:36855000-36866800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:36855000-36866800	Weak transcription	Fetal Kidney	kidney
41	chr6:36855000-36867200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:36855200-36859800	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:36855200-36862000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:36855200-36862200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:36855400-36859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:36855400-36859800	Weak transcription	Primary B cells from cord blood	blood
47	chr6:36855400-36859800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:36855400-36859800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:36855400-36860000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:36855400-36860000	Weak transcription	Rectal Mucosa Donor 29	rectum

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