Variant report

Variant	nsv981127
Chromosome Location	chr6:30022896-30023740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:30023100-30023143	MCF-7	breast:	n/a	n/a
2	MYC	chr6:30023060-30023158	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:30022918-30022968	MCF-7	breast:	n/a	n/a
4	POLR2A	chr6:30023024-30023164	ProgFib	skin:	n/a	n/a
5	POLR2A	chr6:30022783-30022909	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:30023584-30023603	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30023112-30023162	PANC-1	pancreas:	n/a
2	chr6:30023548-30023598	GM12892	blood:	n/a
3	chr6:30023112-30023162	SKMC	muscle:	n/a
4	chr6:30023548-30023598	IMR90	lung:	fetal
5	chr6:30023548-30023598	NHDF-neo	bronchial:	n/a
6	chr6:30023112-30023162	AG04449	skin:	fetal
7	chr6:30023112-30023162	HMEC	breast:	n/a
8	chr6:30023548-30023598	PrEC	prostate:	n/a
9	chr6:30023112-30023162	NT2-D1	testis:	n/a
10	chr6:30023548-30023598	AG04449	skin:	fetal
11	chr6:30023112-30023162	HAEpiC	amniotic membrane:	n/a
12	chr6:30023112-30023162	SK-N-SH_RA	brain:	n/a
13	chr6:30023112-30023162	GM12891	blood:	n/a
14	chr6:30023112-30023162	PrEC	prostate:	n/a
15	chr6:30023548-30023598	ECC-1	luminal epithelium:	n/a
16	chr6:30023548-30023598	HAEpiC	amniotic membrane:	n/a
17	chr6:30023548-30023598	NHBE	bronchial:	n/a
18	chr6:30023112-30023162	MCF-7	breast:	n/a
19	chr6:30023112-30023162	HEK293	kidney:	embryo
20	chr6:30023112-30023162	HNPCEpiC	eye:	n/a
21	chr6:30023112-30023162	HCPEpiC	choroid plexus:	n/a
22	chr6:30023548-30023598	SK-N-SH_RA	brain:	n/a
23	chr6:30023548-30023598	H1-hESC	embryonic stem cell:	embryo
24	chr6:30023112-30023162	H1-hESC	embryonic stem cell:	embryo
25	chr6:30023548-30023598	HNPCEpiC	eye:	n/a
26	chr6:30023112-30023162	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:30023548-30023598	HCF	heart:	n/a
28	chr6:30023548-30023598	HRE	kidney:	n/a
29	chr6:30023548-30023598	HepG2	liver:	n/a
30	chr6:30023112-30023162	SK-N-MC	brain:	n/a
31	chr6:30023548-30023598	Jurkat	blood:	n/a
32	chr6:30023112-30023162	MCF10A-Er-Src	breast:	n/a
33	chr6:30023112-30023162	HL-60	blood:	n/a
34	chr6:30023548-30023598	AoSMC	blood vessel:	n/a
35	chr6:30023112-30023162	HEEpiC	esophagus:	n/a
36	chr6:30023548-30023598	AG09319	gingival:	n/a
37	chr6:30023548-30023598	GM12891	blood:	n/a
38	chr6:30023112-30023162	IMR90	lung:	fetal
39	chr6:30023548-30023598	GM19239	blood:	n/a
40	chr6:30023112-30023162	NB4	blood:	n/a
41	chr6:30023548-30023598	K562	blood:	n/a
42	chr6:30023112-30023162	BJ	skin:	n/a
43	chr6:30023112-30023162	AG09309	skin:	n/a
44	chr6:30023548-30023598	Caco-2	colon:	n/a
45	chr6:30023112-30023162	Jurkat	blood:	n/a
46	chr6:30023112-30023162	GM19239	blood:	n/a
47	chr6:30023548-30023598	MCF-7	breast:	n/a
48	chr6:30023548-30023598	T-47D	breast:	n/a
49	chr6:30023112-30023162	K562	blood:	n/a
50	chr6:30023112-30023162	CMK	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30014777..30016494-chr6:30021603..30023597,2	K562	blood:
2	chr6:30023200..30024877-chr6:30024886..30026414,2	MCF-7	breast:
3	chr6:30014357..30016277-chr6:30021031..30023103,2	K562	blood:
4	chr6:30020011..30023371-chr6:30027197..30030746,5	MCF-7	breast:

No data

Variant related genes	Relation type
ZNRD1	TF binding region
ZNRD1	CpG island
ENSG00000066379	chromatin interactions
ENSG00000204623	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9501012	chr6:30022948-30022949	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539702554	chr6:30022990-30022991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs28731260	chr6:30023063-30023064	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9261259	chr6:30023079-30023080	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs541375721	chr6:30023082-30023083	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375751966	chr6:30023133-30023134	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs149293698	chr6:30023147-30023148	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540456554	chr6:30023148-30023149	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560722836	chr6:30023162-30023163	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs532736458	chr6:30023205-30023206	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144562915	chr6:30023209-30023210	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549597393	chr6:30023227-30023228	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562995642	chr6:30023252-30023253	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184956014	chr6:30023260-30023261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548568808	chr6:30023274-30023275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568590138	chr6:30023288-30023289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534263802	chr6:30023342-30023343	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs9261260	chr6:30023352-30023353	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570616056	chr6:30023388-30023389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370432660	chr6:30023427-30023428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188525214	chr6:30023435-30023436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373459343	chr6:30023455-30023456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28684426	chr6:30023476-30023477	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs180937372	chr6:30023504-30023505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566587185	chr6:30023547-30023548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376647893	chr6:30023548-30023549	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs371202874	chr6:30023565-30023566	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs560571148	chr6:30023601-30023602	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs374486866	chr6:30023602-30023603	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs183690995	chr6:30023668-30023669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563212478	chr6:30023726-30023727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29975200-30027800	Weak transcription	Aorta	Aorta
2	chr6:29975600-30027800	Weak transcription	Right Ventricle	heart
3	chr6:29975800-30027800	Weak transcription	Gastric	stomach
4	chr6:29976600-30023000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:29977200-30024600	Weak transcription	Brain Anterior Caudate	brain
6	chr6:29977200-30027600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:29977200-30027800	Weak transcription	Fetal Intestine Small	intestine
8	chr6:29979000-30027600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:29979400-30024600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:29979800-30027800	Weak transcription	Pancreas	Pancrea
11	chr6:29981200-30023000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:29984600-30023400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:29985000-30024600	Weak transcription	Brain Angular Gyrus	brain
14	chr6:29987800-30024800	Weak transcription	Fetal Intestine Large	intestine
15	chr6:29988200-30027800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:29988200-30027800	Weak transcription	Esophagus	oesophagus
17	chr6:29988400-30023400	Weak transcription	Adipose Nuclei	Adipose
18	chr6:29988400-30027800	Weak transcription	Thymus	Thymus
19	chr6:29988600-30027400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:29989000-30023000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:29998000-30027600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr6:29999200-30027200	Weak transcription	Fetal Heart	heart
23	chr6:30000000-30027400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:30001200-30025000	Weak transcription	Fetal Lung	lung
25	chr6:30001200-30027800	Weak transcription	Fetal Kidney	kidney
26	chr6:30001800-30024800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:30003000-30027200	Weak transcription	Dnd41	blood
28	chr6:30003200-30024200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr6:30005400-30023000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:30006200-30027600	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:30010200-30023000	Weak transcription	Left Ventricle	heart
32	chr6:30010600-30023200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:30011000-30027800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:30012400-30027400	Weak transcription	HepG2	liver
35	chr6:30012600-30024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:30012600-30024800	Weak transcription	HSMM	muscle
37	chr6:30012600-30027200	Weak transcription	HMEC	breast
38	chr6:30012600-30027800	Weak transcription	Small Intestine	intestine
39	chr6:30012800-30027600	Weak transcription	NHDF-Ad	bronchial
40	chr6:30012800-30027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:30012800-30027800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:30013000-30023800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:30013000-30027400	Weak transcription	NHEK	skin
44	chr6:30013000-30027400	Weak transcription	NHLF	lung
45	chr6:30013000-30027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:30013200-30023600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:30013400-30027600	Weak transcription	NH-A	brain
48	chr6:30013600-30027600	Weak transcription	Hela-S3	cervix
49	chr6:30013600-30027800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:30013600-30027800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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