Variant report

Variant	esv3358802
Chromosome Location	chr6:34651138-34651298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:34651054-34651176	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34649586..34652220-chr6:34663564..34665833,2	MCF-7	breast:
2	chr6:34650628..34652210-chr6:34652248..34655112,2	K562	blood:
3	chr6:34651137..34654420-chr6:34758676..34761167,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000220643	TF binding region
ENSG00000065060	chromatin interactions
ENSG00000265123	chromatin interactions
ENSG00000272288	chromatin interactions
ENSG00000196821	chromatin interactions
ENSG00000220643	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533922259	chr6:34651159-34651160	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs563231107	chr6:34651176-34651177	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs2814946	chr6:34651180-34651181	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs368700512	chr6:34651186-34651187	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs531842999	chr6:34651194-34651195	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs200965425	chr6:34651195-34651196	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs550367711	chr6:34651198-34651199	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs201879119	chr6:34651199-34651200	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs564802920	chr6:34651200-34651201	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs199859312	chr6:34651201-34651202	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs532239779	chr6:34651202-34651203	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs9469846	chr6:34651206-34651207	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs202177741	chr6:34651207-34651208	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs71305437	chr6:34651209-34651210	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs68021203	chr6:34651219-34651220	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs544775164	chr6:34651228-34651229	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs558344745	chr6:34651232-34651233	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs9766206	chr6:34651240-34651241	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs375332546	chr6:34651241-34651242	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs60521022	chr6:34651250-34651251	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs9766207	chr6:34651252-34651253	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs571943461	chr6:34651254-34651255	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs9296122	chr6:34651264-34651265	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs540946073	chr6:34651265-34651266	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs9766697	chr6:34651266-34651267	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs9766211	chr6:34651276-34651277	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs111863819	chr6:34651278-34651279	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530033557	chr6:34651282-34651283	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs78345553	chr6:34651285-34651286	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs67229195	chr6:34651291-34651292	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs75537834	chr6:34651292-34651293	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs546950068	chr6:34651293-34651294	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs376986115	chr6:34651295-34651296	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs367561795	chr6:34651296-34651297	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34626000-34662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:34626800-34662400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:34632800-34655200	Weak transcription	Fetal Stomach	stomach
4	chr6:34633000-34662800	Weak transcription	Aorta	Aorta
5	chr6:34634800-34663200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:34636400-34662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:34639800-34662800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:34639800-34662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:34640200-34656600	Weak transcription	Spleen	Spleen
10	chr6:34640800-34655800	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:34641400-34662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:34641600-34654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:34641600-34654800	Weak transcription	Dnd41	blood
14	chr6:34641600-34655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:34641800-34656400	Weak transcription	Left Ventricle	heart
16	chr6:34641800-34661200	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:34641800-34663200	Weak transcription	Gastric	stomach
18	chr6:34642200-34656000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:34642200-34663000	Weak transcription	Thymus	Thymus
20	chr6:34643000-34655400	Weak transcription	Fetal Thymus	thymus
21	chr6:34643000-34655800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:34643000-34655800	Weak transcription	Lung	lung
23	chr6:34643000-34656400	Weak transcription	Pancreas	Pancrea
24	chr6:34643000-34661200	Weak transcription	Right Atrium	heart
25	chr6:34643000-34662800	Weak transcription	Stomach Mucosa	stomach
26	chr6:34647800-34652200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:34647800-34652600	Weak transcription	Psoas Muscle	Psoas
28	chr6:34647800-34660800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:34647800-34661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:34647800-34662000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:34647800-34662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:34647800-34662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:34647800-34662600	Weak transcription	Ovary	ovary
34	chr6:34647800-34662800	Weak transcription	Brain Substantia Nigra	brain
35	chr6:34647800-34662800	Weak transcription	HSMMtube	muscle
36	chr6:34648000-34651600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:34648000-34662600	Weak transcription	Right Ventricle	heart
38	chr6:34648000-34662800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:34648400-34655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:34648400-34662000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:34649200-34651400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:34649200-34652800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:34649200-34660200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:34649200-34660400	Weak transcription	Primary T cells from cord blood	blood
45	chr6:34649200-34662200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:34649200-34662600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:34649400-34651400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:34649400-34651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:34649400-34651400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:34649400-34652000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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