Variant report

Variant	rs541664321
Chromosome Location	chr1:224646282-224646283
allele	A/G
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224619496..224626224-chr1:224640836..224649586,12	K562	blood:
2	chr1:224645408..224648550-chr1:224650858..224654034,4	K562	blood:
3	chr1:224633064..224636103-chr1:224643208..224646617,3	K562	blood:
4	chr1:224629495..224631561-chr1:224643787..224646406,3	K562	blood:
5	chr1:224644893..224646924-chr1:224647544..224649417,2	K562	blood:
6	chr1:224300561..224302914-chr1:224645145..224647028,2	MCF-7	breast:
7	chr1:224615678..224629188-chr1:224635437..224647951,56	MCF-7	breast:
8	chr1:224644724..224648422-chr1:224649777..224653927,3	K562	blood:
9	chr1:224645897..224648212-chr1:224688548..224690344,2	K562	blood:
10	chr1:224617260..224625232-chr1:224640385..224647515,27	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNIH3-2	chr1:224645272-224646480	NONHSAT009806
2	lnc-CNIH3-2	chr1:224645508-224646893	NONHSAT009808

No data

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3364500	chr1:224646269-224646622	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224624000-224646800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:224628400-224648800	Weak transcription	Fetal Brain Female	brain
3	chr1:224628600-224653600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:224639000-224648400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:224642000-224646400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:224643400-224649000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:224643600-224646600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:224644200-224647800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:224644400-224647200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:224644400-224647400	Enhancers	Brain Anterior Caudate	brain
11	chr1:224644400-224648000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:224644600-224647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:224644800-224646600	Weak transcription	Spleen	Spleen
14	chr1:224644800-224647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:224644800-224647800	Enhancers	Fetal Intestine Small	intestine
16	chr1:224644800-224648200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:224644800-224651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:224645000-224646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:224645000-224647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:224645000-224647400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:224645000-224647600	Weak transcription	Lung	lung
22	chr1:224645000-224649200	Weak transcription	Esophagus	oesophagus
23	chr1:224645000-224649200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:224645200-224646600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:224645200-224647400	Weak transcription	Left Ventricle	heart
26	chr1:224645200-224647400	Weak transcription	Right Atrium	heart
27	chr1:224645200-224647600	Enhancers	Brain Angular Gyrus	brain
28	chr1:224645200-224647800	Enhancers	Adipose Nuclei	Adipose
29	chr1:224645400-224646400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:224645400-224646400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:224645400-224646400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:224645400-224646400	Weak transcription	HUVEC	blood vessel
33	chr1:224645400-224646400	Weak transcription	K562	blood
34	chr1:224645400-224646400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:224645400-224646600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:224645400-224646600	Weak transcription	Brain Substantia Nigra	brain
37	chr1:224645400-224646600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:224645400-224646600	Weak transcription	Fetal Lung	lung
39	chr1:224645400-224646600	Weak transcription	Fetal Thymus	thymus
40	chr1:224645400-224646600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:224645400-224646600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:224645400-224646600	Weak transcription	NHLF	lung
43	chr1:224645400-224646800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:224645400-224646800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:224645400-224646800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:224645400-224647000	Weak transcription	Fetal Brain Male	brain
47	chr1:224645400-224647000	Weak transcription	Fetal Heart	heart
48	chr1:224645400-224647400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:224645400-224647600	Weak transcription	Liver	Liver
50	chr1:224645400-224647600	Enhancers	Colon Smooth Muscle	Colon

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