Variant report

Variant	nsv945688
Chromosome Location	chr1:247259796-247260574
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	chr1:247241674..247243620-chr1:247259249..247261980,3	MCF-7	breast:
2	chr1:247241429..247243945-chr1:247260041..247262817,3	K562	blood:
3	chr1:247253924..247257124-chr1:247257562..247261761,7	K562	blood:
4	chr1:247258817..247262425-chr1:247262948..247268807,7	MCF-7	breast:
5	chr1:247241429..247243620-chr1:247259025..247262045,3	K562	blood:
6	chr1:247258996..247260930-chr1:247274650..247277105,3	MCF-7	breast:
7	chr1:247252127..247257268-chr1:247258904..247262111,5	MCF-7	breast:
8	chr1:247256992..247261249-chr1:247272069..247275489,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221953	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000135747	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551412690	chr1:247259797-247259798	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs185329396	chr1:247259800-247259801	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536909913	chr1:247259820-247259821	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369780498	chr1:247259823-247259824	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7549674	chr1:247259858-247259859	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs535958917	chr1:247259873-247259874	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs72770316	chr1:247259895-247259896	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572535381	chr1:247259898-247259899	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs538625320	chr1:247259900-247259901	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148855877	chr1:247259938-247259939	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs143479400	chr1:247259957-247259958	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs191540077	chr1:247259971-247259972	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs563892610	chr1:247259998-247259999	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149700577	chr1:247260000-247260001	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559657691	chr1:247260016-247260017	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs35099853	chr1:247260044-247260045	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs377357656	chr1:247260055-247260056	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs77278574	chr1:247260060-247260061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs182568106	chr1:247260061-247260062	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574091901	chr1:247260112-247260113	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147983770	chr1:247260124-247260125	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141914133	chr1:247260125-247260126	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs77497399	chr1:247260172-247260173	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146253034	chr1:247260174-247260175	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs550569507	chr1:247260181-247260182	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs76698868	chr1:247260190-247260191	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
27	rs146977552	chr1:247260197-247260198	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs78378268	chr1:247260205-247260206	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs142823254	chr1:247260243-247260244	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs566220599	chr1:247260244-247260245	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs538314874	chr1:247260246-247260247	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs558526458	chr1:247260268-247260269	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs373605235	chr1:247260289-247260290	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs537763914	chr1:247260297-247260298	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs557670864	chr1:247260360-247260361	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs7550095	chr1:247260362-247260363	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567135945	chr1:247260364-247260365	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs74152919	chr1:247260374-247260375	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12135739	chr1:247260381-247260382	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138017460	chr1:247260391-247260392	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs547607519	chr1:247260420-247260421	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs149380294	chr1:247260421-247260422	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112764689	chr1:247260450-247260451	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs544129633	chr1:247260461-247260462	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs139568517	chr1:247260486-247260487	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs61852646	chr1:247260534-247260535	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247253200-247260400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:247253200-247263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:247253400-247260600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:247253600-247260000	Weak transcription	Right Ventricle	heart
5	chr1:247253600-247260200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:247253600-247263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:247254000-247262800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:247254000-247263600	Weak transcription	Placenta	Placenta
9	chr1:247254200-247260200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:247254200-247260200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:247254200-247262000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:247254200-247266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:247254400-247260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:247254400-247260600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:247255200-247260200	Weak transcription	Dnd41	blood
16	chr1:247255800-247260200	Weak transcription	Ovary	ovary
17	chr1:247257400-247260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:247257600-247260200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:247257800-247260400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:247257800-247260600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:247258000-247259800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:247258000-247263600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:247258400-247260200	Weak transcription	Brain Angular Gyrus	brain
24	chr1:247258600-247260400	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:247258600-247261400	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr1:247258600-247263600	Strong transcription	Brain Germinal Matrix	brain
27	chr1:247258800-247260200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:247259000-247260600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:247259000-247263600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:247259000-247263600	Weak transcription	Fetal Heart	heart
31	chr1:247259200-247261000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:247259200-247261000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:247259200-247261200	ZNF genes & repeats	Fetal Brain Female	brain
34	chr1:247259200-247262600	ZNF genes & repeats	K562	blood
35	chr1:247259400-247260200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:247259400-247261200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:247259400-247261400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:247259400-247266000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:247259400-247266000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:247259600-247260200	ZNF genes & repeats	Fetal Brain Male	brain
41	chr1:247259600-247260600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:247259600-247260800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:247259600-247266000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr1:247259600-247266000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr1:247259600-247266600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:247259800-247260200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:247259800-247261000	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr1:247259800-247261200	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr1:247259800-247261400	Strong transcription	Brain Hippocampus Middle	brain
50	chr1:247259800-247265600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links