Variant report

Variant	nsv971481
Chromosome Location	chr7:2913356-2925013
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:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
2	chr7:2915975..2917721-chr7:3231286..3232804,2	MCF-7	breast:
3	chr7:2914055..2915867-chr7:3204506..3206043,2	MCF-7	breast:
4	chr5:16465524..16466470-chr7:2913633..2914157,2	Hela-S3	cervix:
5	chr7:2882613..2885726-chr7:2911759..2915688,5	MCF-7	breast:
6	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
7	chr7:2913332..2915358-chr7:2931713..2934636,3	MCF-7	breast:
8	chr7:2765987..2767682-chr7:2913183..2915422,2	MCF-7	breast:
9	chr7:2913187..2915316-chr7:2934287..2938323,4	MCF-7	breast:
10	chr7:2753727..2755444-chr7:2914666..2916537,2	MCF-7	breast:
11	chr7:2894850..2898157-chr7:2912459..2915037,3	MCF-7	breast:
12	chr7:2912356..2915024-chr7:3064651..3067046,2	MCF-7	breast:
13	chr7:2913414..2914953-chr7:3113951..3116529,2	MCF-7	breast:
14	chr7:2758388..2761774-chr7:2912256..2915270,3	K562	blood:
15	chr7:2913908..2916162-chr7:3122594..3124369,2	MCF-7	breast:
16	chr7:2912565..2914175-chr7:2952368..2955309,3	MCF-7	breast:
17	chr7:2913679..2915409-chr7:2948312..2950468,2	K562	blood:
18	chr7:2838034..2839572-chr7:2912043..2913829,2	MCF-7	breast:
19	chr7:2911909..2914760-chr7:3102455..3104497,2	MCF-7	breast:
20	chr7:2913651..2914154-chr7:100464016..100464516,2	Hela-S3	cervix:
21	chr7:2912621..2916379-chr7:3234649..3238028,4	MCF-7	breast:
22	chr7:2912477..2915576-chr7:3192783..3198437,6	MCF-7	breast:
23	chr7:2912750..2915143-chr7:3228683..3231010,3	MCF-7	breast:
24	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
25	chr7:2761837..2763894-chr7:2912353..2913943,2	MCF-7	breast:
26	chr7:2872743..2875246-chr7:2912589..2914983,2	MCF-7	breast:
27	chr7:2685231..2686928-chr7:2913627..2916260,2	MCF-7	breast:
28	chr7:2763542..2765998-chr7:2913273..2914846,2	MCF-7	breast:
29	chr7:2912665..2915404-chr7:2954032..2956544,2	MCF-7	breast:
30	chr7:2895086..2897225-chr7:2913092..2915364,2	MCF-7	breast:
31	chr12:112846626..112847194-chr7:2913325..2913862,2	Hela-S3	cervix:
32	chr7:2913535..2915898-chr7:3339712..3342447,2	MCF-7	breast:
33	chr7:2741629..2743358-chr7:2912496..2914112,2	MCF-7	breast:
34	chr7:2913057..2915172-chr7:3198284..3201204,2	MCF-7	breast:
35	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
36	chr7:2907345..2909750-chr7:2913621..2916060,3	K562	blood:
37	chr7:2726315..2729215-chr7:2912425..2915656,5	MCF-7	breast:
38	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
39	chr7:2756357..2758230-chr7:2913588..2915207,2	K562	blood:
40	chr7:2843670..2845376-chr7:2912642..2914150,2	MCF-7	breast:
41	chr7:2922257..2924119-chr7:2925504..2928131,3	MCF-7	breast:
42	chr2:85134041..85134649-chr7:2913572..2914169,2	Hela-S3	cervix:
43	chr7:2899154..2902095-chr7:2911868..2915224,3	MCF-7	breast:
44	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
45	chr7:2921568..2923869-chr7:3228214..3231115,2	MCF-7	breast:
46	chr7:2912265..2915088-chr7:2952209..2954245,2	K562	blood:
47	chr2:63881623..63882123-chr7:2913394..2913983,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMZ1-4	chr7:2920040-2920279	NONHSAT118828

No data

Variant related genes	Relation type
ENSG00000236708	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000146535	chromatin interactions
ENSG00000173545	chromatin interactions
ENSG00000217455	chromatin interactions
ENSG00000231892	chromatin interactions
ENSG00000174945	chromatin interactions
ENSG00000146555	chromatin interactions
ENSG00000186854	chromatin interactions

Extended variants
information (count: 618 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7456817	chr7:2913371-2913372	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs560259115	chr7:2913375-2913376	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs182439713	chr7:2913389-2913390	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs146371918	chr7:2913415-2913416	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs562437582	chr7:2913427-2913428	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs73035208	chr7:2913477-2913478	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7778433	chr7:2913479-2913480	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs545418603	chr7:2913496-2913497	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs73035210	chr7:2913531-2913532	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564242013	chr7:2913589-2913590	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs533227380	chr7:2913590-2913591	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs117175142	chr7:2913608-2913609	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs376074657	chr7:2913609-2913610	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs187955333	chr7:2913621-2913622	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs549697449	chr7:2913622-2913623	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs193009366	chr7:2913641-2913642	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs112443025	chr7:2913650-2913651	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs537851459	chr7:2913659-2913660	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs147971669	chr7:2913664-2913665	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs371041823	chr7:2913665-2913666	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs371949757	chr7:2913667-2913668	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs557757022	chr7:2913676-2913677	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs571379363	chr7:2913698-2913699	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs556215463	chr7:2913701-2913702	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs553563899	chr7:2913714-2913715	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs573823414	chr7:2913720-2913721	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs542445864	chr7:2913733-2913734	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs386709389	chr7:2913736-2913737	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs575883377	chr7:2913737-2913738	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs62441404	chr7:2913738-2913739	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs62441405	chr7:2913739-2913740	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs540751577	chr7:2913740-2913741	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs532322679	chr7:2913741-2913742	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs560380758	chr7:2913742-2913743	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs2398570	chr7:2913743-2913744	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs137927125	chr7:2913745-2913746	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs569575456	chr7:2913746-2913747	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs532006796	chr7:2913748-2913749	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs142496323	chr7:2913750-2913751	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs571290860	chr7:2913752-2913753	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs185735801	chr7:2913755-2913756	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs553870175	chr7:2913757-2913758	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs567207244	chr7:2913758-2913759	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs73035212	chr7:2913761-2913762	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189496154	chr7:2913771-2913772	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs575949381	chr7:2913773-2913774	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs150509142	chr7:2913774-2913775	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs139439280	chr7:2913775-2913776	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs149669642	chr7:2913776-2913777	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs144583977	chr7:2913778-2913779	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
6	chr7:2909400-2913400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:2910200-2915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:2910200-2915800	Weak transcription	Pancreas	Pancrea
9	chr7:2910400-2913800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:2910400-2914800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:2910600-2913600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:2910600-2913600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:2910600-2913800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:2910600-2915600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:2911400-2914200	Weak transcription	Primary T cells from cord blood	blood
19	chr7:2911600-2917800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:2911600-2918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:2911800-2917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:2911800-2917800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:2912000-2914400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:2912000-2915600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:2912400-2915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:2912600-2913600	Enhancers	HMEC	breast
27	chr7:2912600-2915200	Enhancers	Fetal Thymus	thymus
28	chr7:2912600-2919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:2912800-2913400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:2912800-2913400	Enhancers	Spleen	Spleen
31	chr7:2912800-2913400	Enhancers	NHLF	lung
32	chr7:2912800-2913600	Enhancers	NH-A	brain
33	chr7:2912800-2914000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:2912800-2914200	Enhancers	Fetal Muscle Leg	muscle
35	chr7:2912800-2914200	Enhancers	HUVEC	blood vessel
36	chr7:2912800-2915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:2912800-2916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:2912800-2916400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:2912800-2916400	Enhancers	NHEK	skin
40	chr7:2913000-2913400	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr7:2913000-2913400	Bivalent Enhancer	Fetal Stomach	stomach
42	chr7:2913000-2913400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr7:2913000-2913600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:2913000-2913600	Enhancers	A549	lung
45	chr7:2913000-2913800	Enhancers	NHDF-Ad	bronchial
46	chr7:2913000-2914000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:2913000-2914200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:2913000-2914200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:2913000-2914200	Enhancers	HSMM	muscle
50	chr7:2913000-2914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links