Variant report

Variant	nsv981134
Chromosome Location	chr6:34584017-34585112
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	BHLHE40	chr6:34583485-34584136	K562	blood:	n/a	n/a
2	CEBPB	chr6:34583953-34584114	K562	blood:	n/a	n/a
3	CEBPD	chr6:34583299-34584103	K562	blood:	n/a	n/a
4	EP300	chr6:34584126-34584405	K562	blood:	n/a	n/a
5	GATA1	chr6:34582756-34584657	PBDE	blood:	n/a	chr6:34584014-34584027 chr6:34583547-34583556 chr6:34584152-34584159
6	GATA1	chr6:34583301-34584744	K562	blood:	n/a	chr6:34584014-34584027 chr6:34583547-34583556 chr6:34584152-34584159
7	JUND	chr6:34583412-34584111	K562	blood:	n/a	chr6:34583994-34584008
8	NR2F2	chr6:34583247-34584226	K562	blood:	n/a	n/a
9	RCOR1	chr6:34583393-34584043	K562	blood:	n/a	n/a
10	SPI1	chr6:34583963-34584282	HL-60	blood:	n/a	chr6:34584110-34584123 chr6:34584098-34584107
11	SPI1	chr6:34583973-34584203	K562	blood:	n/a	chr6:34584110-34584123 chr6:34584098-34584107
12	TEAD4	chr6:34583273-34584328	K562	blood:	n/a	n/a
13	UBTF	chr6:34583475-34584035	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34581964..34584422-chr6:34585107..34586849,2	K562	blood:
2	chr6:34584121..34585997-chr6:34662703..34665284,2	K562	blood:
3	chr6:34204068..34206001-chr6:34581430..34584116,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACSIN1-2	chr6:34584315-34585035	NONHSAT112140

Variant related genes	Relation type
RPL7P25	TF binding region
ENSG00000196821	chromatin interactions
ENSG00000272288	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000216636	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187731045	chr6:34584085-34584086	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557098965	chr6:34584100-34584101	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570717825	chr6:34584110-34584111	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371209555	chr6:34584130-34584131	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539179434	chr6:34584138-34584139	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs191449457	chr6:34584172-34584173	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62398733	chr6:34584195-34584196	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565001695	chr6:34584265-34584266	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576925533	chr6:34584288-34584289	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs541409301	chr6:34584313-34584314	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559527389	chr6:34584326-34584327	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs111864140	chr6:34584327-34584328	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs183970278	chr6:34584403-34584404	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs377335612	chr6:34584413-34584414	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs186768565	chr6:34584555-34584556	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs542033447	chr6:34584569-34584570	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs140725328	chr6:34584615-34584616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs370891256	chr6:34584648-34584649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs555699558	chr6:34584714-34584715	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs528236881	chr6:34584724-34584725	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs546561484	chr6:34584798-34584799	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs575653262	chr6:34584808-34584809	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs567992550	chr6:34584819-34584820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs192981352	chr6:34584820-34584821	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs544579176	chr6:34584825-34584826	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs568823319	chr6:34584827-34584828	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs539202214	chr6:34584854-34584855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs557575530	chr6:34584856-34584857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs184661493	chr6:34584867-34584868	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs374688535	chr6:34584869-34584870	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs553308482	chr6:34584887-34584888	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs2744968	chr6:34584951-34584952	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs542222489	chr6:34584962-34584963	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs563931306	chr6:34585014-34585015	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs531233202	chr6:34585021-34585022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs546411123	chr6:34585039-34585040	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77711629	chr6:34585057-34585058	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376366436	chr6:34585076-34585077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs59240548	chr6:34585083-34585084	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs202152358	chr6:34585098-34585099	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546352252	chr6:34585104-34585105	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs190329311	chr6:34585112-34585113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34556200-34612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:34557400-34612400	Weak transcription	Fetal Kidney	kidney
3	chr6:34562600-34585200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:34567000-34612200	Weak transcription	Fetal Lung	lung
5	chr6:34567800-34612400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:34570400-34612600	Weak transcription	Brain Anterior Caudate	brain
7	chr6:34570600-34610000	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:34570800-34584600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:34570800-34587000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:34570800-34618800	Weak transcription	Brain Angular Gyrus	brain
11	chr6:34571000-34585200	Weak transcription	Right Ventricle	heart
12	chr6:34571000-34621400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:34571000-34624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:34572400-34612600	Weak transcription	Aorta	Aorta
15	chr6:34573800-34607200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:34574400-34584200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:34574400-34612400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:34574400-34623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:34574600-34585200	Weak transcription	Ovary	ovary
20	chr6:34574600-34598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:34574600-34598200	Weak transcription	Lung	lung
22	chr6:34574600-34612600	Weak transcription	Gastric	stomach
23	chr6:34574600-34613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:34574600-34613600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:34574800-34590400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:34574800-34596400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:34574800-34596600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:34574800-34596600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:34574800-34611800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:34574800-34612200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:34574800-34612400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:34574800-34612400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:34574800-34612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr6:34574800-34613200	Weak transcription	Small Intestine	intestine
35	chr6:34575000-34612400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:34575000-34612400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:34575000-34612600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:34575000-34618800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:34575400-34606600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:34575600-34611200	Weak transcription	Placenta	Placenta
41	chr6:34575800-34584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr6:34575800-34595000	Weak transcription	Fetal Thymus	thymus
43	chr6:34575800-34596600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:34575800-34612000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:34577400-34613400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:34577400-34618600	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:34578800-34592200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr6:34578800-34598400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:34578800-34612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:34579200-34614200	Weak transcription	Pancreas	Pancrea

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