Variant report

Variant	rs1245173
Chromosome Location	chr12:65028300-65028301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65026550..65029198-chr12:65038213..65040878,2	K562	blood:
2	chr12:65015218..65018137-chr12:65028300..65031254,2	K562	blood:
3	chr12:65023053..65026165-chr12:65027701..65030902,3	K562	blood:
4	chr12:65006929..65009756-chr12:65024584..65028826,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207546	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1147098	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap]
rs1147107	0.89[YRI][hapmap]
rs2620721	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36069931	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65006800-65031800	Weak transcription	Dnd41	blood
2	chr12:65018400-65029200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:65018600-65035000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:65019800-65028400	Weak transcription	Colonic Mucosa	Colon
5	chr12:65019800-65028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:65019800-65029200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:65019800-65030600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:65021200-65031200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:65021400-65029600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:65021600-65029400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:65021600-65030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:65021800-65037000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:65021800-65038000	Weak transcription	Ovary	ovary
16	chr12:65022200-65029200	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr12:65022400-65029200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:65022400-65039600	Weak transcription	Osteobl	bone
19	chr12:65023600-65029000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:65023600-65029800	Genic enhancers	Primary T cells from cord blood	blood
21	chr12:65024000-65031200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:65024600-65029200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:65024800-65031800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:65025000-65028400	Enhancers	Right Atrium	heart
25	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
26	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:65025600-65028400	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:65025800-65031400	Enhancers	HepG2	liver
29	chr12:65026200-65028400	Enhancers	HUVEC	blood vessel
30	chr12:65026200-65029000	Enhancers	Stomach Mucosa	stomach
31	chr12:65026200-65029400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:65026200-65029600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
34	chr12:65026600-65030600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:65026800-65028400	Enhancers	Hela-S3	cervix
36	chr12:65026800-65032400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:65027000-65029200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:65027200-65028400	Enhancers	Small Intestine	intestine
39	chr12:65027200-65029000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:65027200-65029000	Enhancers	K562	blood
41	chr12:65027400-65028600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:65027400-65029200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:65027400-65029200	Enhancers	Fetal Heart	heart
44	chr12:65027400-65029400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:65027400-65030000	Enhancers	Aorta	Aorta
46	chr12:65027400-65030800	Weak transcription	Fetal Intestine Small	intestine
47	chr12:65027400-65032600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
49	chr12:65027600-65028400	Enhancers	NHDF-Ad	bronchial
50	chr12:65027600-65028600	Enhancers	Colon Smooth Muscle	Colon

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