Variant report

Variant	nsv970105
Chromosome Location	chr6:31131712-31133907
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	chr6:31130035..31132882-chr6:31132970..31134557,3	MCF-7	breast:
2	chr6:31129675..31131961-chr6:31164663..31167424,2	K562	blood:
3	chr6:31129733..31135466-chr6:31137398..31140077,6	K562	blood:
4	chr6:31130818..31133676-chr6:31141690..31143353,2	K562	blood:
5	chr6:31126958..31132315-chr6:31135299..31140140,6	K562	blood:
6	chr6:31129596..31132185-chr6:31285768..31288675,2	MCF-7	breast:
7	chr6:31131645..31133531-chr6:31135098..31137202,3	MCF-7	breast:
8	chr6:31130035..31132882-chr6:31132970..31134557,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206344	chromatin interactions
ENSG00000272501	chromatin interactions
ENSG00000204531	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556949722	chr6:31131722-31131723	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs187552786	chr6:31131725-31131726	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs541520490	chr6:31131759-31131760	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539402785	chr6:31131783-31131784	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs145044939	chr6:31131788-31131789	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs1150766	chr6:31131793-31131794	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs116493652	chr6:31131796-31131797	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs17190811	chr6:31131837-31131838	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577901526	chr6:31131894-31131895	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs142348421	chr6:31131953-31131954	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs574256688	chr6:31131983-31131984	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544834139	chr6:31131993-31131994	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3130933	chr6:31132085-31132086	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs13409	chr6:31132140-31132141	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537327593	chr6:31132176-31132177	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200275741	chr6:31132252-31132253	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs3734864	chr6:31132303-31132304	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
18	rs564148752	chr6:31132367-31132368	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1061118	chr6:31132414-31132415	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs546320542	chr6:31132583-31132584	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141766253	chr6:31132591-31132592	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2394882	chr6:31132649-31132650	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs191968371	chr6:31132676-31132677	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574550488	chr6:31132689-31132690	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs3064866	chr6:31132693-31132694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375055989	chr6:31132694-31132695	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569052370	chr6:31132698-31132699	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539759473	chr6:31132705-31132706	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182755376	chr6:31132710-31132711	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566899849	chr6:31132725-31132726	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370667419	chr6:31132827-31132828	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555862994	chr6:31132866-31132867	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9263796	chr6:31132883-31132884	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs538008081	chr6:31132884-31132885	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17851818	chr6:31132956-31132957	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578180451	chr6:31132992-31132993	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368434272	chr6:31133001-31133002	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112943725	chr6:31133089-31133090	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539923595	chr6:31133167-31133168	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375526814	chr6:31133192-31133193	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372220322	chr6:31133225-31133226	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545718511	chr6:31133262-31133263	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs563719735	chr6:31133275-31133276	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368277084	chr6:31133324-31133325	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374244939	chr6:31133325-31133326	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572480837	chr6:31133359-31133360	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115234511	chr6:31133405-31133406	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373808092	chr6:31133459-31133460	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367652843	chr6:31133484-31133485	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200784165	chr6:31133499-31133500	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
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
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	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
Breast cancer	21364760	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31127200-31131800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:31127200-31140600	Weak transcription	Left Ventricle	heart
3	chr6:31127200-31146800	Weak transcription	Small Intestine	intestine
4	chr6:31127600-31131800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:31127600-31132600	Weak transcription	Pancreas	Pancrea
6	chr6:31127600-31133000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:31127600-31136600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:31127600-31137000	Weak transcription	Stomach Mucosa	stomach
9	chr6:31127600-31143000	Weak transcription	Right Ventricle	heart
10	chr6:31127600-31147800	Weak transcription	Primary B cells from cord blood	blood
11	chr6:31127600-31148000	Weak transcription	Right Atrium	heart
12	chr6:31127800-31132400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:31127800-31132600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:31127800-31132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:31127800-31132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:31127800-31132800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:31127800-31133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:31127800-31136400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:31127800-31136400	Weak transcription	Primary T cells from cord blood	blood
20	chr6:31127800-31142800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:31127800-31142800	Weak transcription	HSMM	muscle
22	chr6:31127800-31146200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:31127800-31147800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:31127800-31147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:31127800-31153200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:31128000-31131800	Weak transcription	NH-A	brain
27	chr6:31128000-31132800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:31128000-31135600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:31128000-31136800	Weak transcription	K562	blood
30	chr6:31128000-31137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:31128000-31140400	Weak transcription	Brain Germinal Matrix	brain
32	chr6:31128000-31143200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:31128200-31133200	Weak transcription	HUVEC	blood vessel
34	chr6:31128200-31135800	Weak transcription	Fetal Brain Female	brain
35	chr6:31128200-31143600	Weak transcription	NHDF-Ad	bronchial
36	chr6:31129000-31132000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:31129000-31132200	Strong transcription	Fetal Thymus	thymus
38	chr6:31129000-31133000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:31129000-31133000	Strong transcription	Thymus	Thymus
40	chr6:31129200-31131800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:31129200-31132000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:31129200-31132000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:31129200-31132000	Strong transcription	Fetal Muscle Leg	muscle
44	chr6:31129200-31132200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:31129200-31134000	Strong transcription	Fetal Stomach	stomach
46	chr6:31129400-31132200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:31129400-31134200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:31129600-31133000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:31130000-31133400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:31130200-31134200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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