Variant report

Variant	rs60317356
Chromosome Location	chr1:173905520-173905521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173792379..173794780-chr1:173904886..173907947,3	K562	blood:
2	chr1:173799840..173802662-chr1:173904585..173906470,2	K562	blood:
3	chr1:173904113..173906664-chr1:173907580..173910408,3	K562	blood:
4	chr1:173829730..173832561-chr1:173902531..173906389,3	MCF-7	breast:
5	chr1:173833906..173839819-chr1:173898429..173906150,11	MCF-7	breast:
6	chr1:173793063..173794780-chr1:173905333..173907947,2	K562	blood:
7	chr1:173899124..173901538-chr1:173904329..173906040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000208317	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000270084	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58700482	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61738616	1.00[EUR][1000 genomes]
rs6425263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425269	1.00[EUR][1000 genomes]
rs6677446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522580	1.00[EUR][1000 genomes]
rs7551109	1.00[EUR][1000 genomes]
rs7554635	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
3	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv3407396	chr1:173896346-173917122	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:173856600-173907200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:173871200-173908400	Weak transcription	Spleen	Spleen
3	chr1:173882800-173912400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:173893400-173908400	Weak transcription	Colonic Mucosa	Colon
5	chr1:173894600-173907800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:173894600-173914400	Weak transcription	Right Ventricle	heart
7	chr1:173895200-173912200	Weak transcription	Stomach Mucosa	stomach
8	chr1:173895400-173907600	Weak transcription	Ovary	ovary
9	chr1:173895600-173906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:173895800-173906200	Weak transcription	HepG2	liver
11	chr1:173896400-173907800	Weak transcription	Gastric	stomach
12	chr1:173896400-173910000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:173896400-173914400	Weak transcription	Pancreas	Pancrea
14	chr1:173896800-173908400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:173897000-173907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:173897000-173908400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:173897400-173907200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:173897600-173907200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:173897800-173907600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:173898000-173907800	Weak transcription	Fetal Stomach	stomach
21	chr1:173898000-173915200	Weak transcription	Aorta	Aorta
22	chr1:173898200-173907800	Weak transcription	Thymus	Thymus
23	chr1:173898200-173908800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:173898200-173910000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:173898200-173910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:173898200-173912200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:173898400-173907200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:173898600-173906200	Weak transcription	Fetal Kidney	kidney
29	chr1:173898600-173906800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:173898800-173907400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:173898800-173912200	Weak transcription	NHEK	skin
32	chr1:173899000-173906400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:173899200-173913800	Weak transcription	Fetal Heart	heart
34	chr1:173899400-173906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:173899400-173917400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:173899400-173927200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:173899400-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:173899600-173923200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:173899800-173953800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:173900000-173906200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:173900000-173906400	Strong transcription	GM12878-XiMat	blood
42	chr1:173900000-173907800	Weak transcription	Small Intestine	intestine
43	chr1:173900000-173911000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:173900000-173929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:173900000-173958600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:173900000-173962400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:173900200-173905800	Strong transcription	Hela-S3	cervix
50	chr1:173900200-173906200	Weak transcription	Osteobl	bone

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