Variant report

Variant	rs1219665
Chromosome Location	chr1:226353879-226353880
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226351361-226355979	K562	blood:	n/a	n/a
2	NFIC	chr1:226353788-226354377	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr1:226353802-226354480	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr1:226353813-226354364	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226348768..226351185-chr1:226353522..226355799,2	K562	blood:
2	chr1:226338792..226340351-chr1:226353525..226355664,2	K562	blood:
3	chr1:226347075..226349830-chr1:226352587..226354541,2	MCF-7	breast:
4	chr1:226314600..226317216-chr1:226352858..226355283,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000270598	Chromatin interaction
ENSG00000182827	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1219663	0.95[ASN][1000 genomes]
rs1219667	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1219668	0.92[ASN][1000 genomes]
rs1870928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2666860	0.92[ASN][1000 genomes]
rs2927343	0.92[ASN][1000 genomes]
rs2927353	0.89[ASN][1000 genomes]
rs59720499	0.87[ASN][1000 genomes]
rs9729999	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226323800-226355000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:226324000-226372800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:226330600-226354200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:226330800-226354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:226331000-226354000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:226331000-226355200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:226331600-226354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:226331600-226355600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:226333000-226356400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:226333800-226354400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:226338200-226354000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:226338400-226354200	Strong transcription	Placenta	Placenta
13	chr1:226338400-226354400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr1:226340400-226369600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:226343600-226354200	Strong transcription	HepG2	liver
16	chr1:226343600-226354400	Strong transcription	Dnd41	blood
17	chr1:226343600-226354800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:226343600-226354800	Strong transcription	Primary T cells from cord blood	blood
19	chr1:226343800-226354000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:226344200-226354400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:226344600-226354400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:226345000-226354200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:226345000-226354200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:226345000-226354800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:226345000-226354800	Strong transcription	Fetal Intestine Small	intestine
26	chr1:226345000-226354800	Strong transcription	Fetal Stomach	stomach
27	chr1:226345200-226354000	Strong transcription	Colon Smooth Muscle	Colon
28	chr1:226345200-226354000	Strong transcription	Left Ventricle	heart
29	chr1:226345200-226354000	Strong transcription	Thymus	Thymus
30	chr1:226345200-226354200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:226346600-226354400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226347000-226369600	Weak transcription	Psoas Muscle	Psoas
33	chr1:226348800-226354200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:226348800-226356000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:226348800-226365200	Weak transcription	NHEK	skin
36	chr1:226349000-226366400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:226349000-226373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:226349400-226369200	Weak transcription	Fetal Heart	heart
39	chr1:226349800-226366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:226350000-226354200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:226350000-226363200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:226350000-226370200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:226350000-226373200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:226350600-226363800	Weak transcription	Aorta	Aorta
45	chr1:226350600-226369000	Weak transcription	Hela-S3	cervix
46	chr1:226350800-226369600	Weak transcription	Right Ventricle	heart
47	chr1:226351000-226369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:226351200-226360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:226351800-226354000	Strong transcription	Ovary	ovary
50	chr1:226352000-226354400	Strong transcription	NHLF	lung

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