Variant report

Variant	rs17721101
Chromosome Location	chr12:48228821-48228822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:48228309-48228921	K562	blood:	n/a	n/a
2	GATA1	chr12:48227197-48228933	PBDE	blood:	n/a	chr12:48228611-48228620
3	IRF1	chr12:48227440-48228858	K562	blood:	n/a	chr12:48228785-48228798 chr12:48228770-48228779
4	EP300	chr12:48226878-48228863	K562	blood:	n/a	n/a
5	TBL1XR1	chr12:48227369-48228859	K562	blood:	n/a	n/a
6	MAZ	chr12:48227971-48228878	K562	blood:	n/a	n/a
7	POLR2A	chr12:48225808-48231662	Raji	blood:	n/a	n/a
8	SPI1	chr12:48228441-48228834	K562	blood:	n/a	n/a
9	POLR2A	chr12:48228003-48228917	K562	blood:	n/a	n/a
10	POLR2A	chr12:48228013-48229849	K562	blood:	n/a	n/a
11	JUND	chr12:48226815-48228864	K562	blood:	n/a	n/a
12	MYC	chr12:48226785-48228939	K562	blood:	n/a	chr12:48227879-48227888
13	IRF1	chr12:48228180-48228892	K562	blood:	n/a	chr12:48228785-48228798 chr12:48228770-48228779
14	CCNT2	chr12:48228168-48228866	K562	blood:	n/a	chr12:48228600-48228609
15	RCOR1	chr12:48226786-48228887	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48123429..48125813-chr12:48228513..48231351,2	MCF-7	breast:
2	chr12:48221708..48225796-chr12:48227739..48231535,5	MCF-7	breast:
3	chr12:48228405..48229977-chr12:48256176..48258937,2	K562	blood:
4	chr12:48167054..48169032-chr12:48227941..48229658,2	MCF-7	breast:
5	chr12:48227911..48229940-chr12:48244103..48245883,2	K562	blood:
6	chr12:48041265..48043377-chr12:48228501..48230073,2	K562	blood:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000257488	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11168256	1.00[ASN][1000 genomes]
rs11168257	1.00[ASN][1000 genomes]
rs11168258	1.00[ASN][1000 genomes]
rs11574052	1.00[ASN][1000 genomes]
rs55713656	1.00[ASN][1000 genomes]
rs73109811	1.00[ASN][1000 genomes]
rs7487602	1.00[ASN][1000 genomes]
rs7487637	1.00[ASN][1000 genomes]
rs7973956	1.00[ASN][1000 genomes]

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	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48218800-48229000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr12:48222200-48229800	Enhancers	Primary B cells from cord blood	blood
3	chr12:48223200-48229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:48223400-48229800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:48223400-48232200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:48223400-48236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:48223400-48237000	Weak transcription	Colonic Mucosa	Colon
8	chr12:48223600-48229400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:48223600-48229400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:48223600-48231200	Weak transcription	A549	lung
11	chr12:48223600-48231800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:48223600-48237000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:48223600-48238600	Weak transcription	Right Atrium	heart
14	chr12:48223600-48239800	Weak transcription	Gastric	stomach
15	chr12:48224200-48229400	Flanking Active TSS	Fetal Thymus	thymus
16	chr12:48224200-48232200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:48224200-48232600	Weak transcription	Psoas Muscle	Psoas
18	chr12:48224200-48238400	Weak transcription	NHDF-Ad	bronchial
19	chr12:48224400-48229400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:48224600-48229200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:48224600-48229800	Weak transcription	Right Ventricle	heart
22	chr12:48224600-48238000	Weak transcription	Esophagus	oesophagus
23	chr12:48224800-48229000	Flanking Active TSS	Thymus	Thymus
24	chr12:48225400-48231800	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:48225600-48231800	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:48225800-48230400	Enhancers	Fetal Muscle Leg	muscle
27	chr12:48225800-48231800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:48226000-48230000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:48226000-48230000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:48226000-48231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:48226800-48231000	Enhancers	GM12878-XiMat	blood
32	chr12:48227000-48229000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:48227000-48229000	Enhancers	Spleen	Spleen
34	chr12:48227000-48230400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:48227000-48233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:48227200-48232400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:48227200-48232400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr12:48227200-48261200	Weak transcription	HSMM	muscle
39	chr12:48227400-48229000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:48227400-48229000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:48227400-48229600	Enhancers	Placenta	Placenta
42	chr12:48227400-48230200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:48227400-48232000	Enhancers	Primary T cells from cord blood	blood
44	chr12:48227600-48229400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:48227600-48231800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:48227600-48237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:48227800-48229000	Enhancers	Lung	lung
48	chr12:48227800-48229800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr12:48227800-48232200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr12:48227800-48233400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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