Variant report

Variant	nsv869750
Chromosome Location	chr6:35031548-35085585
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35048678..35049279-chr6:35107435..35108070,2	MCF-7	breast:
2	chr6:35054576..35057054-chr6:35059180..35061237,2	MCF-7	breast:
3	chr6:35036943..35038797-chr6:35040859..35042394,2	MCF-7	breast:
4	chr6:34977724..34979255-chr6:35054061..35055761,2	K562	blood:
5	chr6:35054576..35057054-chr6:35059180..35061237,2	MCF-7	breast:
6	chr6:35039746..35042584-chr6:35046507..35048012,2	MCF-7	breast:
7	chr6:35078166..35080543-chr6:35174999..35176550,2	K562	blood:
8	chr6:35060379..35062413-chr6:35062564..35064850,2	K562	blood:
9	chr6:35040084..35042469-chr6:35059564..35062383,2	MCF-7	breast:
10	chr6:35039756..35041851-chr6:35046944..35049669,2	K562	blood:
11	chr6:35028358..35030424-chr6:35067760..35070087,2	MCF-7	breast:
12	chr6:35053514..35055094-chr6:35107527..35110019,2	K562	blood:
13	chr6:35039746..35042584-chr6:35046507..35048012,2	MCF-7	breast:
14	chr6:34482918..34485421-chr6:35035460..35037570,2	K562	blood:
15	chr6:35032635..35034931-chr6:35037985..35040100,2	MCF-7	breast:
16	chr6:35050342..35053093-chr6:35053123..35054813,2	K562	blood:
17	chr6:35045958..35049879-chr6:35052642..35055370,3	K562	blood:
18	chr6:35027752..35029526-chr6:35031427..35033441,2	MCF-7	breast:
19	chr6:35039881..35041859-chr6:35044532..35047324,2	K562	blood:
20	chr6:35049328..35051932-chr6:35226008..35227575,2	K562	blood:
21	chr6:35060379..35062413-chr6:35062564..35064850,2	K562	blood:
22	chr6:35027834..35029968-chr6:35032421..35033978,2	K562	blood:
23	chr6:35036943..35038797-chr6:35040859..35042394,2	MCF-7	breast:
24	chr6:35050342..35053093-chr6:35053123..35054813,2	K562	blood:
25	chr6:35052520..35054027-chr6:35226819..35228676,2	K562	blood:
26	chr6:34204164..34206868-chr6:35031694..35033222,2	K562	blood:
27	chr6:35032635..35034931-chr6:35037985..35040100,2	MCF-7	breast:
28	chr6:35025816..35027340-chr6:35029435..35032265,2	K562	blood:
29	chr6:35011986..35013703-chr6:35031904..35034159,2	K562	blood:
30	chr6:35050024..35051706-chr6:35112716..35114332,2	K562	blood:
31	chr6:35045958..35049879-chr6:35052642..35055370,3	K562	blood:
32	chr6:35027650..35029628-chr6:35048238..35049961,2	K562	blood:
33	chr6:35039881..35041859-chr6:35044532..35047324,2	K562	blood:
34	chr6:35039756..35041851-chr6:35046944..35049669,2	K562	blood:
35	chr6:35027834..35030317-chr6:35032384..35033921,2	K562	blood:
36	chr6:35040084..35042469-chr6:35059564..35062383,2	MCF-7	breast:
37	chr19:39047519..39048142-chr6:35065295..35065887,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137309	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000064999	chromatin interactions
ENSG00000124678	chromatin interactions

Extended variants
information (count: 1615 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1615 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79437929	chr6:35031548-35031549	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs16896780	chr6:35031552-35031553	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370396781	chr6:35031580-35031581	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562087563	chr6:35031600-35031601	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529378450	chr6:35031647-35031648	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181507368	chr6:35031754-35031755	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562847625	chr6:35031774-35031775	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533332083	chr6:35031820-35031821	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552113329	chr6:35031834-35031835	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567123824	chr6:35031837-35031838	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141485881	chr6:35031883-35031884	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs820081	chr6:35031891-35031892	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs820080	chr6:35031986-35031987	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537927530	chr6:35032043-35032044	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555813853	chr6:35032056-35032057	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570923113	chr6:35032064-35032065	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs61428004	chr6:35032101-35032102	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184736087	chr6:35032118-35032119	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113640014	chr6:35032126-35032127	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs543854606	chr6:35032132-35032133	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374150206	chr6:35032144-35032145	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563681774	chr6:35032229-35032230	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150223811	chr6:35032245-35032246	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138842972	chr6:35032252-35032253	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs820079	chr6:35032267-35032268	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148950044	chr6:35032273-35032274	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs114566353	chr6:35032336-35032337	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115045865	chr6:35032349-35032350	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375618104	chr6:35032389-35032390	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114081607	chr6:35032397-35032398	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs820078	chr6:35032412-35032413	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145664938	chr6:35032421-35032422	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549343230	chr6:35032439-35032440	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373411489	chr6:35032452-35032453	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542868775	chr6:35032492-35032493	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374926061	chr6:35032509-35032510	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535225920	chr6:35032510-35032511	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567873165	chr6:35032609-35032610	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528769221	chr6:35032619-35032620	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190393742	chr6:35032638-35032639	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181491677	chr6:35032676-35032677	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549471350	chr6:35032771-35032772	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570961709	chr6:35032774-35032775	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs538291938	chr6:35032835-35032836	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553341862	chr6:35032854-35032855	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146139147	chr6:35032857-35032858	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35678706	chr6:35032898-35032899	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367894422	chr6:35032921-35032922	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554539126	chr6:35032931-35032932	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117059286	chr6:35032932-35032933	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Glioblastoma multiforme	21510904	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34994600-35036000	Weak transcription	K562	blood
2	chr6:35015800-35044200	Weak transcription	HMEC	breast
3	chr6:35016200-35055000	Weak transcription	Hela-S3	cervix
4	chr6:35017600-35036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:35017800-35053000	Weak transcription	Small Intestine	intestine
6	chr6:35018400-35052800	Weak transcription	Fetal Kidney	kidney
7	chr6:35018600-35051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:35018800-35038200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr6:35018800-35060600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:35020000-35059800	Strong transcription	Fetal Intestine Small	intestine
11	chr6:35020200-35037600	Strong transcription	Fetal Intestine Large	intestine
12	chr6:35020400-35059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:35020600-35034800	Strong transcription	Primary T cells from cord blood	blood
14	chr6:35021000-35037000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:35021000-35037600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:35021200-35034800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr6:35021400-35036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:35021400-35037400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:35021600-35036800	Strong transcription	Colonic Mucosa	Colon
20	chr6:35021800-35055400	Weak transcription	HSMM	muscle
21	chr6:35022000-35034800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr6:35022000-35036600	Strong transcription	Placenta	Placenta
23	chr6:35022400-35036200	Strong transcription	Pancreas	Pancrea
24	chr6:35022600-35037200	Strong transcription	Gastric	stomach
25	chr6:35023000-35033200	Weak transcription	Aorta	Aorta
26	chr6:35024000-35039200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:35024600-35034800	Strong transcription	Ovary	ovary
28	chr6:35024600-35035400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:35024800-35062000	Weak transcription	A549	lung
30	chr6:35025200-35037400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:35025600-35056000	Strong transcription	Liver	Liver
32	chr6:35025800-35035400	Strong transcription	HSMMtube	muscle
33	chr6:35026000-35032200	Genic enhancers	Adipose Nuclei	Adipose
34	chr6:35026400-35034600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:35026400-35036000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr6:35026400-35036400	Strong transcription	Fetal Stomach	stomach
37	chr6:35026600-35059200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:35027400-35032400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:35027600-35031600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:35027600-35036400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:35027800-35031600	Strong transcription	Colon Smooth Muscle	Colon
42	chr6:35027800-35032200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:35028000-35031600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:35028200-35032200	Strong transcription	Fetal Brain Female	brain
45	chr6:35028400-35033000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:35028400-35048800	Weak transcription	Psoas Muscle	Psoas
47	chr6:35028600-35060000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:35028800-35036200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:35028800-35045400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:35029000-35033400	Weak transcription	Brain Angular Gyrus	brain

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