Variant report

Variant	rs775238
Chromosome Location	chr12:57938081-57938082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57937983..57939678-chr12:57947420..57949175,2	MCF-7	breast:
2	chr12:57935626..57940631-chr12:58026197..58030320,5	K562	blood:

Variant related genes	Relation type
ENSG00000135454	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1148551	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2599999	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
2	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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	126 gene(s)	inside rSNPs	diseases
9	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
10	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57917600-57939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57918600-57939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:57919200-57939600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:57919400-57939400	Strong transcription	Fetal Stomach	stomach
5	chr12:57920400-57938600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:57920600-57938800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:57921000-57938800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:57921200-57938600	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:57921400-57939600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr12:57923000-57939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:57927200-57939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:57928400-57939600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:57929000-57939400	Weak transcription	Small Intestine	intestine
14	chr12:57929000-57939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:57929400-57939200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:57929600-57939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:57929600-57939600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:57931600-57939200	Strong transcription	A549	lung
19	chr12:57932600-57939600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:57932800-57939600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:57932800-57939600	Weak transcription	Psoas Muscle	Psoas
22	chr12:57933200-57938600	Weak transcription	Fetal Brain Male	brain
23	chr12:57933200-57938600	Weak transcription	GM12878-XiMat	blood
24	chr12:57933200-57939800	Weak transcription	Fetal Kidney	kidney
25	chr12:57933400-57938600	Weak transcription	Gastric	stomach
26	chr12:57933400-57939600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:57933400-57940000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:57933600-57939600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:57933600-57939600	Weak transcription	Colonic Mucosa	Colon
30	chr12:57934000-57939200	Weak transcription	Fetal Lung	lung
31	chr12:57934600-57938600	Strong transcription	NHEK	skin
32	chr12:57935200-57938600	Weak transcription	HepG2	liver
33	chr12:57935200-57938800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:57935200-57939600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:57935200-57939600	Weak transcription	Right Ventricle	heart
36	chr12:57935400-57938400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:57935600-57938600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:57935600-57938600	Weak transcription	Stomach Mucosa	stomach
39	chr12:57935600-57939200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:57935600-57939200	Weak transcription	Brain Angular Gyrus	brain
41	chr12:57935600-57939200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:57935600-57939200	Weak transcription	Thymus	Thymus
43	chr12:57935600-57939600	Weak transcription	Esophagus	oesophagus
44	chr12:57935800-57938600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:57935800-57938600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:57935800-57939400	Weak transcription	Brain Substantia Nigra	brain
47	chr12:57935800-57939600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:57935800-57939600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:57935800-57939600	Weak transcription	Aorta	Aorta
50	chr12:57936000-57939600	Weak transcription	Primary B cells from cord blood	blood

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