Variant report

Variant	nsv1022871
Chromosome Location	chr6:57412194-57631396
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:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:21570110..21571992-chr6:57575867..57577390,2	K562	blood:
2	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
3	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
4	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
5	chr4:92702026..92702759-chr6:57445422..57446224,2	MCF-7	breast:
6	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:
7	chr6:57444969..57446432-chr6:57539130..57540030,7	MCF-7	breast:
8	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
9	chr6:57489928..57493477-chr6:57494690..57497411,3	K562	blood:
10	chr6:57472415..57474751-chr6:57478817..57480386,2	K562	blood:
11	chr6:57489928..57492575-chr6:57494690..57497411,2	K562	blood:
12	chr6:57472415..57474751-chr6:57478817..57480386,2	K562	blood:
13	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
14	chr3:81978758..81979420-chr6:57518103..57518962,2	MCF-7	breast:
15	chr6:57445250..57446013-chr6:57537509..57538705,3	MCF-7	breast:
16	chr6:57489928..57493477-chr6:57494690..57497411,3	K562	blood:
17	chr18:1906473..1906973-chr6:57539499..57540003,2	MCF-7	breast:
18	chr6:57437551..57439992-chr6:57443844..57446833,2	K562	blood:
19	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
20	chr6:57421846..57424167-chr6:57427801..57430462,3	MCF-7	breast:
21	chr6:57429189..57431102-chr6:57440501..57442862,2	MCF-7	breast:
22	chr6:57489928..57492575-chr6:57494690..57497411,2	K562	blood:
23	chr6:57413449..57416181-chr6:57416496..57418603,2	K562	blood:
24	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
25	chr6:57445356..57445958-chr6:57689666..57690275,2	MCF-7	breast:
26	chr11:17753668..17754453-chr6:57615850..57616702,2	MCF-7	breast:
27	chr6:57445367..57446031-chr6:62860058..62860574,2	MCF-7	breast:
28	chr6:57217129..57218039-chr6:57539079..57539990,3	MCF-7	breast:
29	chr6:57541185..57543919-chr8:104728155..104729992,2	MCF-7	breast:
30	chr6:57445326..57445995-chr6:57539539..57540106,2	MCF-7	breast:
31	chr6:57460058..57461813-chr6:57464595..57467531,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB23-12	chr6:57551484-57551584	NONHSAT113297
2	lnc-RAB23-12	chr6:57543887-57544127	NONHSAT113297

No data

Variant related genes	Relation type
ENSG00000263745	chromatin interactions

Extended variants
information (count: 11247 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:11247 , 50 per page) page: 1 2 3 4 5 6 7 ... 225

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7753733	chr6:57412194-57412195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1967730	chr6:57412235-57412236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556698268	chr6:57412271-57412272	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575155333	chr6:57412284-57412285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs539350331	chr6:57412287-57412288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557525056	chr6:57412296-57412297	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75420906	chr6:57412298-57412299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572739995	chr6:57412311-57412312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540354134	chr6:57412330-57412331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs562236748	chr6:57412337-57412338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs386701597	chr6:57412340-57412341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1537508	chr6:57412341-57412342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574069968	chr6:57412345-57412346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs1537509	chr6:57412352-57412353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544556538	chr6:57412360-57412361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs71214815	chr6:57412361-57412362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562746188	chr6:57412365-57412366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533666432	chr6:57412393-57412394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552145978	chr6:57412418-57412419	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs7774380	chr6:57412423-57412424	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527916802	chr6:57412429-57412430	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs371924583	chr6:57412430-57412431	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs80151517	chr6:57412437-57412438	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs376547544	chr6:57412449-57412450	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs535206638	chr6:57412480-57412481	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs539614	chr6:57412488-57412489	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs550503182	chr6:57412514-57412515	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs559600	chr6:57412576-57412577	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs540482	chr6:57412584-57412585	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs540487	chr6:57412586-57412587	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs113964759	chr6:57412587-57412588	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs568557691	chr6:57412640-57412641	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371504620	chr6:57412661-57412662	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539337824	chr6:57412667-57412668	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557663305	chr6:57412670-57412671	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566306905	chr6:57412712-57412713	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557936	chr6:57412716-57412717	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533957342	chr6:57412744-57412745	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555284872	chr6:57412758-57412759	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574035661	chr6:57412764-57412765	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs544429084	chr6:57412767-57412768	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs77781279	chr6:57412840-57412841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77993373	chr6:57412850-57412851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556589962	chr6:57412854-57412855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6459242	chr6:57412871-57412872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80151592	chr6:57412875-57412876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6459243	chr6:57412897-57412898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78028370	chr6:57412932-57412933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9370625	chr6:57412942-57412943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs386701598	chr6:57412943-57412944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57401800-57412200	Weak transcription	Dnd41	blood
2	chr6:57408800-57412400	Weak transcription	Gastric	stomach
3	chr6:57412000-57412200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:57412000-57412400	Weak transcription	Aorta	Aorta
5	chr6:57412200-57412400	Weak transcription	Esophagus	oesophagus
6	chr6:57412200-57412600	ZNF genes & repeats	Dnd41	blood
7	chr6:57412400-57412600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:57412400-57412600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:57412400-57412600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:57412400-57412600	Enhancers	Esophagus	oesophagus
11	chr6:57412400-57412600	ZNF genes & repeats	Gastric	stomach
12	chr6:57412400-57412600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
13	chr6:57412400-57412800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:57412400-57412800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:57412400-57412800	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr6:57412400-57412800	ZNF genes & repeats	Aorta	Aorta
17	chr6:57412400-57412800	ZNF genes & repeats	Pancreas	Pancrea
18	chr6:57412400-57412800	Enhancers	Spleen	Spleen
19	chr6:57412600-57412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:57412600-57412800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:57412800-57413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:57412800-57414800	Weak transcription	Spleen	Spleen
23	chr6:57412800-57415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:57412800-57415000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:57412800-57415800	Weak transcription	Pancreas	Pancrea
26	chr6:57412800-57422600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:57413400-57413600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:57413800-57414000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:57413800-57414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:57414000-57414200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:57414000-57414800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:57414000-57416200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:57414200-57414400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:57414200-57414800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:57414800-57415000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:57414800-57415000	Enhancers	Brain Anterior Caudate	brain
37	chr6:57414800-57415200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:57414800-57415200	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:57414800-57415400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:57415000-57415200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:57415000-57415200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:57415000-57415400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:57415000-57415400	Active TSS	Brain Anterior Caudate	brain
44	chr6:57415000-57415400	Enhancers	Brain Hippocampus Middle	brain
45	chr6:57415000-57415400	Enhancers	Brain Substantia Nigra	brain
46	chr6:57415000-57416000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:57415200-57415400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:57415800-57416000	ZNF genes & repeats	NHDF-Ad	bronchial
49	chr6:57416000-57422600	Weak transcription	NHDF-Ad	bronchial
50	chr6:57417800-57418000	Active TSS	Liver	Liver

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