Variant report

Variant	nsv1022555
Chromosome Location	chr6:34488209-34517003
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:97)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:34508607..34511346-chr6:34567639..34570139,2	K562	blood:
2	chr6:34494038..34495878-chr6:34511727..34514586,2	K562	blood:
3	chr6:34216948..34217455-chr6:34494244..34495154,2	K562	blood:
4	chr6:34484087..34487534-chr6:34488647..34495126,10	K562	blood:
5	chr6:34494873..34497912-chr6:34521168..34524393,3	MCF-7	breast:
6	chr6:34494608..34496228-chr6:34576974..34578003,14	K562	blood:
7	chr6:34214520..34216995-chr6:34493716..34495769,3	K562	blood:
8	chr6:34495679..34498360-chr6:34503054..34505628,3	MCF-7	breast:
9	chr6:34497355..34498033-chr6:34557195..34557723,2	MCF-7	breast:
10	chr6:34505107..34506692-chr6:34515801..34518168,2	MCF-7	breast:
11	chr6:34432385..34434700-chr6:34511007..34512543,2	MCF-7	breast:
12	chr6:34503783..34506203-chr6:34577530..34580135,3	MCF-7	breast:
13	chr6:34490944..34493717-chr6:34499736..34502529,2	K562	blood:
14	chr6:34497164..34498159-chr6:34514567..34515376,2	MCF-7	breast:
15	chr6:34494680..34495634-chr6:34577124..34578035,2	MCF-7	breast:
16	chr6:34478801..34483587-chr6:34487248..34491572,6	K562	blood:
17	chr6:34392363..34395361-chr6:34495918..34498856,2	K562	blood:
18	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:
19	chr6:34496140..34497736-chr6:34570571..34572929,2	MCF-7	breast:
20	chr6:34504144..34505003-chr6:34514225..34514901,2	MCF-7	breast:
21	chr6:34481304..34483971-chr6:34501598..34503855,2	K562	blood:
22	chr6:34501585..34503222-chr6:34504276..34506644,2	K562	blood:
23	chr6:34203553..34206354-chr6:34501121..34502681,2	K562	blood:
24	chr6:34503128..34505845-chr6:34536309..34539232,2	K562	blood:
25	chr6:34496704..34498115-chr6:34576145..34578099,12	MCF-7	breast:
26	chr6:34480102..34483166-chr6:34493351..34495807,3	MCF-7	breast:
27	chr6:34514095..34516338-chr6:34543578..34545622,2	MCF-7	breast:
28	chr6:34490944..34493717-chr6:34499736..34502529,2	K562	blood:
29	chr6:34506980..34511719-chr6:34518115..34520438,4	K562	blood:
30	chr6:34502860..34505153-chr6:34574324..34576111,2	MCF-7	breast:
31	chr6:34512842..34514603-chr6:34573896..34576620,2	MCF-7	breast:
32	chr6:34498308..34501187-chr6:34577541..34579069,2	MCF-7	breast:
33	chr6:34486477..34488245-chr6:34492452..34495163,2	MCF-7	breast:
34	chr6:34502654..34506400-chr6:34510960..34515406,9	MCF-7	breast:
35	chr6:34501585..34503222-chr6:34504276..34506644,2	K562	blood:
36	chr6:34496932..34498060-chr6:34528153..34529212,4	MCF-7	breast:
37	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
38	chr6:34504144..34505003-chr6:34514225..34514901,2	MCF-7	breast:
39	chr6:33686485..33689308-chr6:34514444..34516167,2	MCF-7	breast:
40	chr6:34514887..34517520-chr6:34540730..34542846,2	MCF-7	breast:
41	chr6:34211149..34214132-chr6:34498415..34499975,2	K562	blood:
42	chr6:34486477..34488245-chr6:34492452..34495163,2	MCF-7	breast:
43	chr6:34498077..34501386-chr6:34521162..34524580,5	MCF-7	breast:
44	chr6:34505107..34506692-chr6:34515801..34518168,2	MCF-7	breast:
45	chr6:34430319..34432535-chr6:34490428..34492193,2	MCF-7	breast:
46	chr6:34496972..34497706-chr6:34576720..34577905,3	MCF-7	breast:
47	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
48	chr6:34502654..34506400-chr6:34510960..34515406,9	MCF-7	breast:
49	chr6:34497199..34497799-chr6:34557125..34558123,2	MCF-7	breast:
50	chr6:34497242..34499881-chr6:34564591..34566557,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124614	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000124664	chromatin interactions
ENSG00000186577	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000196114	chromatin interactions
ENSG00000124507	chromatin interactions

Extended variants
information (count: 1259 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558307088	chr6:34488239-34488240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553633496	chr6:34488244-34488245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187462628	chr6:34488334-34488335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371351078	chr6:34488347-34488348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs3843524	chr6:34488453-34488454	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534115640	chr6:34488468-34488469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554856009	chr6:34488476-34488477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575137973	chr6:34488491-34488492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546052887	chr6:34488549-34488550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34339604	chr6:34488557-34488558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6928912	chr6:34488559-34488560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368763399	chr6:34488585-34488586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564241139	chr6:34488603-34488604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575433881	chr6:34488672-34488673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528402082	chr6:34488703-34488704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540015121	chr6:34488704-34488705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561591514	chr6:34488717-34488718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535678598	chr6:34488778-34488779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530122955	chr6:34488786-34488787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548402548	chr6:34488825-34488826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190733778	chr6:34488831-34488832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78897429	chr6:34488847-34488848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183226706	chr6:34488866-34488867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571138242	chr6:34488881-34488882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376450904	chr6:34488906-34488907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574790757	chr6:34488928-34488929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185233924	chr6:34488950-34488951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189657599	chr6:34488971-34488972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568680972	chr6:34489014-34489015	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28760419	chr6:34489074-34489075	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369032909	chr6:34489107-34489108	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145949681	chr6:34489112-34489113	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550755281	chr6:34489130-34489131	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115996986	chr6:34489264-34489265	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34425499	chr6:34489276-34489277	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115745737	chr6:34489300-34489301	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572795554	chr6:34489306-34489307	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540173978	chr6:34489307-34489308	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183383999	chr6:34489394-34489395	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187876524	chr6:34489427-34489428	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151177454	chr6:34489443-34489444	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs193172224	chr6:34489461-34489462	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563646634	chr6:34489466-34489467	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574895126	chr6:34489494-34489495	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531062578	chr6:34489502-34489503	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79379247	chr6:34489516-34489517	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570899714	chr6:34489521-34489522	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528755236	chr6:34489523-34489524	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547323271	chr6:34489552-34489553	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568644465	chr6:34489554-34489555	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:765 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34441400-34494000	Weak transcription	Right Atrium	heart
2	chr6:34483400-34494200	Weak transcription	Spleen	Spleen
3	chr6:34485800-34489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:34486400-34492200	Weak transcription	K562	blood
5	chr6:34486400-34492400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:34486400-34493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:34486600-34493000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:34486800-34494200	Weak transcription	Brain Angular Gyrus	brain
9	chr6:34487000-34489800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:34487400-34490800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:34487800-34489000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:34487800-34494000	Weak transcription	Brain Anterior Caudate	brain
13	chr6:34489000-34489600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:34489000-34495600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:34489200-34490000	Enhancers	Primary B cells from cord blood	blood
16	chr6:34489200-34490400	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:34489400-34489600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:34489600-34490000	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:34489600-34490200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:34489800-34490200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:34489800-34490800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:34490000-34494000	Weak transcription	Primary B cells from cord blood	blood
23	chr6:34490000-34494000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:34490200-34491000	Bivalent Enhancer	HepG2	liver
25	chr6:34490200-34494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:34490200-34494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:34490400-34491200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:34490400-34494400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr6:34490800-34491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:34490800-34494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:34491200-34491400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr6:34491200-34494200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:34491400-34491800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:34491600-34495200	Enhancers	Fetal Stomach	stomach
35	chr6:34491800-34492000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:34492000-34493000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:34492000-34494200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:34492200-34494200	Enhancers	K562	blood
39	chr6:34492400-34492600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:34492600-34492800	Enhancers	Fetal Kidney	kidney
41	chr6:34492600-34493200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:34492600-34494800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:34492800-34494600	Weak transcription	Fetal Kidney	kidney
44	chr6:34493000-34493200	Enhancers	Fetal Lung	lung
45	chr6:34493000-34494200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:34493000-34494600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr6:34493200-34493400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:34493200-34493800	Weak transcription	Fetal Lung	lung
49	chr6:34493200-34494400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr6:34493200-34494600	Enhancers	HUES6 Cell Line	embryonic stem cell

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