Variant report

Variant	nsv981792
Chromosome Location	chr7:104524351-104538104
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104523961..104524718-chr7:104546923..104547448,2	MCF-7	breast:
2	chr7:104530363..104532505-chr7:104533626..104535586,2	K562	blood:
3	chr7:104523974..104524675-chr7:104558772..104559696,2	MCF-7	breast:
4	chr7:104525898..104527468-chr7:104529410..104531951,2	K562	blood:
5	chr7:104523544..104525271-chr7:104558660..104559768,6	MCF-7	breast:
6	chr7:104523014..104525633-chr7:104652582..104654103,2	MCF-7	breast:
7	chr7:104523942..104525943-chr7:104535712..104537774,2	K562	blood:
8	chr7:104523873..104524762-chr7:104976177..104976740,2	K562	blood:
9	chr7:104523003..104525584-chr7:105230453..105233041,2	K562	blood:
10	chr7:104532796..104534517-chr7:104535357..104537671,2	K562	blood:
11	chr7:104523788..104524761-chr7:104558250..104559942,9	K562	blood:
12	chr7:104524458..104526068-chr7:104657025..104659232,2	K562	blood:
13	chr7:104532796..104534517-chr7:104535357..104537671,2	K562	blood:
14	chr7:104530363..104532505-chr7:104533626..104535586,2	K562	blood:
15	chr7:104523347..104526293-chr7:104526937..104529454,4	K562	blood:
16	chr7:104525898..104527468-chr7:104529410..104531951,2	K562	blood:
17	chr7:104523347..104526293-chr7:104526937..104529454,4	K562	blood:
18	chr7:104523942..104525943-chr7:104535712..104537774,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-3	chr7:104535770-104536256	ucscGeneNc_uc003vcp_1
2	lnc-SRPK2-3	chr7:104535075-104536511	NONHSAT122573

No data

Variant related genes	Relation type
ENSG00000185055	chromatin interactions
ENSG00000228393	chromatin interactions

Extended variants
information (count: 447 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74559491	chr7:104524383-104524384	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs560310294	chr7:104524425-104524426	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs17173	chr7:104524466-104524467	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs538483004	chr7:104524479-104524480	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs552376820	chr7:104524502-104524503	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142040638	chr7:104524517-104524518	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs555498210	chr7:104524553-104524554	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575337451	chr7:104524570-104524571	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544061092	chr7:104524588-104524589	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs151232881	chr7:104524590-104524591	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139199441	chr7:104524608-104524609	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144113217	chr7:104524636-104524637	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs735444	chr7:104524663-104524664	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146482603	chr7:104524731-104524732	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532640679	chr7:104524735-104524736	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs114009495	chr7:104524787-104524788	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551038045	chr7:104524797-104524798	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562629298	chr7:104524821-104524822	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs735443	chr7:104524985-104524986	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34249148	chr7:104525009-104525010	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs398111671	chr7:104525016-104525017	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112190683	chr7:104525017-104525018	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs76134479	chr7:104525018-104525019	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140975765	chr7:104525030-104525031	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190208475	chr7:104525062-104525063	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs183351728	chr7:104525085-104525086	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145054828	chr7:104525128-104525129	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs145738526	chr7:104525190-104525191	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs148939041	chr7:104525254-104525255	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555436926	chr7:104525270-104525271	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548569009	chr7:104525325-104525326	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs75925252	chr7:104525371-104525372	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187481601	chr7:104525388-104525389	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs35437828	chr7:104525399-104525400	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377487089	chr7:104525400-104525401	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370048452	chr7:104525434-104525435	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557582077	chr7:104525448-104525449	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192734606	chr7:104525517-104525518	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577724003	chr7:104525519-104525520	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540085269	chr7:104525530-104525531	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs553643138	chr7:104525539-104525540	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183648296	chr7:104525572-104525573	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143653391	chr7:104525575-104525576	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs148174079	chr7:104525580-104525581	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188080643	chr7:104525588-104525589	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144077925	chr7:104525676-104525677	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192121056	chr7:104525677-104525678	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184672773	chr7:104525712-104525713	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548050400	chr7:104525717-104525718	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143848373	chr7:104525722-104525723	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104509800-104524400	Weak transcription	Pancreas	Pancrea
2	chr7:104523400-104524400	Enhancers	Brain Anterior Caudate	brain
3	chr7:104523400-104524400	Enhancers	Fetal Intestine Small	intestine
4	chr7:104523600-104524400	Enhancers	Fetal Intestine Large	intestine
5	chr7:104523600-104524600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:104523600-104524600	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:104523600-104524800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:104523600-104524800	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:104523600-104524800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:104523600-104524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:104523600-104524800	Enhancers	Fetal Kidney	kidney
12	chr7:104523800-104524400	Enhancers	Colonic Mucosa	Colon
13	chr7:104523800-104524400	Enhancers	Colon Smooth Muscle	Colon
14	chr7:104523800-104524400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr7:104523800-104524400	Enhancers	Stomach Mucosa	stomach
16	chr7:104523800-104524400	Enhancers	GM12878-XiMat	blood
17	chr7:104523800-104524600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:104523800-104524600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:104523800-104524600	Enhancers	Brain Angular Gyrus	brain
20	chr7:104523800-104524600	Enhancers	HSMM	muscle
21	chr7:104523800-104524800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:104523800-104524800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:104523800-104524800	Flanking Active TSS	K562	blood
24	chr7:104523800-104524800	Enhancers	Osteobl	bone
25	chr7:104523800-104525000	Enhancers	Fetal Stomach	stomach
26	chr7:104523800-104526600	Enhancers	Fetal Muscle Leg	muscle
27	chr7:104524000-104524400	Enhancers	Adipose Nuclei	Adipose
28	chr7:104524000-104524400	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:104524000-104524400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr7:104524000-104524400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:104524000-104524400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:104524000-104524400	Enhancers	HUVEC	blood vessel
33	chr7:104524000-104524400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:104524000-104524600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:104524000-104524600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:104524000-104524600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr7:104524000-104524600	Active TSS	Right Ventricle	heart
38	chr7:104524000-104524600	Enhancers	Small Intestine	intestine
39	chr7:104524000-104524600	Enhancers	NHEK	skin
40	chr7:104524000-104524800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:104524000-104524800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:104524000-104524800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:104524000-104524800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:104524000-104524800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:104524000-104524800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr7:104524000-104524800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:104524000-104524800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:104524000-104524800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:104524000-104524800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:104524000-104524800	Enhancers	HMEC	breast

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