Variant report

Variant	rs4653463
Chromosome Location	chr1:226898258-226898259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226898138..226900809-chr1:226904974..226906566,2	K562	blood:
2	chr1:226896184..226899571-chr1:226902737..226905068,3	K562	blood:
3	chr1:226896960..226898684-chr1:226898762..226901661,3	K562	blood:
4	chr1:226889377..226893057-chr1:226895503..226902234,11	MCF-7	breast:
5	chr1:226889403..226893513-chr1:226896039..226901883,9	MCF-7	breast:
6	chr1:226896960..226898684-chr1:226898762..226901394,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12076039	0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs12078663	0.93[YRI][hapmap]
rs16846409	0.90[AMR][1000 genomes]
rs16846413	0.86[AMR][1000 genomes]
rs16846590	1.00[JPT][hapmap]
rs3754402	1.00[CHB][hapmap]
rs3754409	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4653763	0.81[AMR][1000 genomes]
rs4653765	1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4653766	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57646605	0.85[AFR][1000 genomes]
rs60166938	0.89[AFR][1000 genomes]
rs60541195	0.94[AFR][1000 genomes]
rs60932168	0.90[AMR][1000 genomes]
rs6662364	0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs6678940	1.00[JPT][hapmap]
rs7525819	1.00[JPT][hapmap]
rs9651015	0.94[YRI][hapmap];0.94[AFR][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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891600-226899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:226891600-226900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:226891600-226900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:226891800-226898600	Weak transcription	Colonic Mucosa	Colon
6	chr1:226891800-226899000	Weak transcription	Ovary	ovary
7	chr1:226891800-226901400	Weak transcription	Fetal Kidney	kidney
8	chr1:226891800-226903000	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
10	chr1:226892000-226898600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:226894200-226899200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:226894400-226902000	Enhancers	Brain Angular Gyrus	brain
14	chr1:226894600-226898600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:226894800-226902400	Weak transcription	Psoas Muscle	Psoas
16	chr1:226895400-226899200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr1:226895400-226899400	Enhancers	HMEC	breast
18	chr1:226895400-226900200	Strong transcription	Dnd41	blood
19	chr1:226895400-226900800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:226895400-226900800	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:226895400-226901000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:226895600-226899200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:226895600-226901600	Enhancers	Colon Smooth Muscle	Colon
24	chr1:226895800-226899400	Enhancers	Rectal Smooth Muscle	rectum
25	chr1:226895800-226901800	Enhancers	Brain Anterior Caudate	brain
26	chr1:226896000-226898400	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr1:226896000-226898600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:226896000-226899000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:226896000-226899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226896000-226899200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:226896000-226899200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:226896000-226901800	Enhancers	Placenta	Placenta
33	chr1:226896000-226902600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:226896000-226903400	Enhancers	Brain Hippocampus Middle	brain
35	chr1:226896200-226899200	Genic enhancers	Fetal Thymus	thymus
36	chr1:226896200-226899400	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:226896200-226899400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:226896200-226899800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:226896200-226901800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:226896200-226909800	Weak transcription	Fetal Intestine Large	intestine
41	chr1:226896400-226900200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:226896400-226900600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:226896400-226901000	Enhancers	Adipose Nuclei	Adipose
44	chr1:226896600-226900000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:226896600-226901400	Enhancers	Fetal Muscle Leg	muscle
46	chr1:226896600-226910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:226896800-226898400	Weak transcription	Small Intestine	intestine
48	chr1:226896800-226898400	Weak transcription	Stomach Mucosa	stomach
49	chr1:226896800-226898800	Weak transcription	Osteobl	bone
50	chr1:226896800-226899600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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