Variant report

Variant	rs8179303
Chromosome Location	chr1:223920150-223920151
allele	G/T
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:0)
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	chr1:223892791..223896772-chr1:223919510..223922888,4	MCF-7	breast:
2	chr1:223914702..223917591-chr1:223920131..223923452,6	K562	blood:
3	chr1:223919205..223921124-chr1:223921422..223926352,4	K562	blood:
4	chr1:223900439..223903816-chr1:223918326..223920507,3	MCF-7	breast:
5	chr1:223918635..223922245-chr1:223925850..223929641,4	MCF-7	breast:
6	chr1:223914562..223916498-chr1:223920143..223922062,2	K562	blood:
7	chr1:223897765..223900392-chr1:223919189..223921724,2	MCF-7	breast:
8	chr1:223898782..223903083-chr1:223918027..223924082,6	K562	blood:
9	chr1:223919304..223920937-chr1:223921422..223924041,2	K562	blood:
10	chr1:223901394..223904242-chr1:223919607..223921227,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12022914	0.83[CHB][hapmap]
rs12022934	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12023822	0.84[ASN][1000 genomes]
rs12026548	0.83[CHB][hapmap]
rs12027762	0.83[CHB][hapmap]
rs12034645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12036573	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs12037507	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12046438	0.84[ASN][1000 genomes]
rs12048989	0.92[CHB][hapmap]
rs1542507	0.82[CHB][hapmap]
rs16842259	0.83[CHB][hapmap]
rs28370041	0.84[ASN][1000 genomes]
rs28370177	0.83[CHB][hapmap]
rs59206866	0.82[ASN][1000 genomes]
rs7538151	0.83[CHB][hapmap]
rs9804140	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223903600-223922400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:223904400-223922400	Genic enhancers	NHLF	lung
3	chr1:223906600-223921000	Weak transcription	Fetal Brain Male	brain
4	chr1:223914400-223921800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:223915000-223920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:223915000-223920800	Weak transcription	Liver	Liver
7	chr1:223915000-223921000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:223915000-223921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:223915000-223921000	Genic enhancers	NHEK	skin
10	chr1:223915200-223930800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:223915400-223927200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:223915400-223933000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:223915400-223936200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:223915800-223931600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:223916600-223927000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:223916600-223932600	Weak transcription	Fetal Brain Female	brain
18	chr1:223916800-223920400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:223916800-223922400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:223917000-223922200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:223917600-223921200	Enhancers	Placenta	Placenta
22	chr1:223917800-223920600	Weak transcription	Fetal Thymus	thymus
23	chr1:223917800-223921400	Enhancers	Fetal Muscle Leg	muscle
24	chr1:223917800-223921800	Enhancers	Brain Angular Gyrus	brain
25	chr1:223917800-223922200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:223917800-223922400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:223917800-223922600	Enhancers	Fetal Lung	lung
28	chr1:223917800-223922800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:223918000-223921600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:223918200-223921200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr1:223918200-223922000	Enhancers	Brain Substantia Nigra	brain
32	chr1:223918200-223923000	Enhancers	Stomach Mucosa	stomach
33	chr1:223918400-223920400	Enhancers	Brain Anterior Caudate	brain
34	chr1:223918400-223921000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:223918400-223921200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:223918400-223921200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:223918400-223921400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:223918400-223921600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:223918400-223921600	Enhancers	Right Ventricle	heart
40	chr1:223918400-223921800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr1:223918400-223921800	Enhancers	Colon Smooth Muscle	Colon
42	chr1:223918400-223921800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:223918400-223921800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr1:223918400-223922000	Enhancers	Brain Cingulate Gyrus	brain
45	chr1:223918400-223922400	Enhancers	Left Ventricle	heart
46	chr1:223918400-223922400	Enhancers	Small Intestine	intestine
47	chr1:223918400-223922800	Enhancers	Fetal Heart	heart
48	chr1:223918400-223924000	Enhancers	Right Atrium	heart
49	chr1:223918600-223922600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:223918600-223922600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links