Variant report

Variant	nsv981135
Chromosome Location	chr6:35423548-35424152
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:
2	chr6:35415085..35416689-chr6:35421187..35424185,2	K562	blood:
3	chr6:35418617..35424875-chr6:35434196..35438070,12	MCF-7	breast:
4	chr6:35258451..35260687-chr6:35421514..35424141,3	MCF-7	breast:
5	chr6:35415818..35424678-chr6:35432486..35440672,36	K562	blood:
6	chr6:35417485..35421526-chr6:35423771..35426864,4	MCF-7	breast:
7	chr6:35423795..35426623-chr6:35465037..35468781,3	K562	blood:
8	chr6:35423275..35426107-chr6:35428625..35431307,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112039	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000023892	chromatin interactions
ENSG00000065029	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375195621	chr6:35423549-35423550	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369035099	chr6:35423550-35423551	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs149097636	chr6:35423559-35423560	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs575747751	chr6:35423587-35423588	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373159305	chr6:35423588-35423589	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371485747	chr6:35423604-35423605	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs121434505	chr6:35423630-35423631	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs201961713	chr6:35423633-35423634	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201543340	chr6:35423652-35423653	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs4713867	chr6:35423662-35423663	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373417949	chr6:35423673-35423674	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs181761362	chr6:35423675-35423676	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs200760551	chr6:35423690-35423691	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs121434506	chr6:35423696-35423697	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376243211	chr6:35423697-35423698	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370606792	chr6:35423701-35423702	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs151276683	chr6:35423732-35423733	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556092637	chr6:35423748-35423749	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs45509302	chr6:35423755-35423756	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs140563583	chr6:35423774-35423775	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs370057221	chr6:35423777-35423778	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145648734	chr6:35423797-35423798	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs373268808	chr6:35423826-35423827	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs138182352	chr6:35423827-35423828	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs142746353	chr6:35423834-35423835	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150278839	chr6:35423874-35423875	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs7761870	chr6:35423886-35423887	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539200047	chr6:35423900-35423901	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs149415553	chr6:35423902-35423903	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs144766038	chr6:35423917-35423918	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs370659315	chr6:35423927-35423928	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs148638909	chr6:35423928-35423929	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs551170184	chr6:35423931-35423932	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs142737128	chr6:35423960-35423961	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs202207657	chr6:35423968-35423969	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs147356927	chr6:35423971-35423972	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs377429906	chr6:35423978-35423979	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs538577337	chr6:35423998-35423999	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs45451605	chr6:35424008-35424009	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs397897540	chr6:35424011-35424012	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs200243667	chr6:35424034-35424035	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs75364050	chr6:35424051-35424052	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs533815063	chr6:35424062-35424063	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs192036100	chr6:35424064-35424065	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs555278041	chr6:35424066-35424067	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs376591931	chr6:35424096-35424097	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs370661452	chr6:35424126-35424127	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35420800-35423600	Weak transcription	Left Ventricle	heart
2	chr6:35421000-35427200	Weak transcription	Thymus	Thymus
3	chr6:35421000-35435400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:35421200-35425200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:35421200-35425600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:35421200-35425600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:35421200-35426200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:35421200-35435200	Weak transcription	Brain Angular Gyrus	brain
9	chr6:35421200-35435400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:35421400-35423600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:35421400-35424000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:35421400-35424600	Weak transcription	Primary T cells from cord blood	blood
13	chr6:35421400-35424600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:35421400-35424600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:35421400-35425200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:35421400-35425600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:35421400-35425800	Weak transcription	Brain Substantia Nigra	brain
18	chr6:35421400-35435400	Weak transcription	Colonic Mucosa	Colon
19	chr6:35421400-35435400	Weak transcription	Fetal Kidney	kidney
20	chr6:35421400-35435400	Weak transcription	Pancreas	Pancrea
21	chr6:35421600-35423600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:35421600-35424800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:35421600-35427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:35421600-35433800	Weak transcription	HUVEC	blood vessel
25	chr6:35421600-35435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:35421600-35435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:35421600-35435400	Weak transcription	A549	lung
28	chr6:35421600-35435400	Weak transcription	NH-A	brain
29	chr6:35421800-35423600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:35421800-35431000	Weak transcription	Liver	Liver
31	chr6:35422000-35424000	Enhancers	Psoas Muscle	Psoas
32	chr6:35422000-35425400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:35422000-35427000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:35422000-35430200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:35422200-35423600	Weak transcription	Primary B cells from cord blood	blood
36	chr6:35422200-35423800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:35422200-35435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:35422200-35435400	Weak transcription	Small Intestine	intestine
39	chr6:35422400-35423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:35422400-35423800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:35422400-35426000	Weak transcription	NHLF	lung
42	chr6:35422400-35427000	Weak transcription	GM12878-XiMat	blood
43	chr6:35422400-35430200	Weak transcription	HSMM	muscle
44	chr6:35422400-35434800	Strong transcription	Fetal Intestine Small	intestine
45	chr6:35422600-35423600	Weak transcription	Fetal Brain Female	brain
46	chr6:35422600-35427600	Strong transcription	HepG2	liver
47	chr6:35422600-35429200	Strong transcription	Dnd41	blood
48	chr6:35422600-35435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:35422800-35424000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:35422800-35425200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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