Variant report

Variant	rs1169725
Chromosome Location	chr12:121652712-121652713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121645581..121650866-chr12:121650989..121654547,8	K562	blood:
2	chr12:121651456..121655222-chr12:121658060..121661321,3	MCF-7	breast:
3	chr12:121555909..121558170-chr12:121651475..121654023,2	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1169726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1180052	0.93[AFR][1000 genomes];1.00[AMR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121648800-121655800	Weak transcription	Aorta	Aorta
2	chr12:121648800-121660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121648800-121661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:121648800-121666600	Weak transcription	Ovary	ovary
5	chr12:121649000-121652800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:121649000-121653800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:121649000-121654000	Weak transcription	Gastric	stomach
8	chr12:121649000-121654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:121649000-121655000	Weak transcription	Fetal Kidney	kidney
10	chr12:121649000-121655000	Weak transcription	Lung	lung
11	chr12:121649000-121656600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:121649000-121659800	Weak transcription	Thymus	Thymus
13	chr12:121649000-121660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:121649000-121660400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:121649000-121660600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:121649000-121660600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:121649000-121661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:121649000-121661200	Weak transcription	Esophagus	oesophagus
19	chr12:121649000-121665000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:121649000-121666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:121649200-121654000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:121649200-121654200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:121649200-121655400	Weak transcription	Brain Substantia Nigra	brain
28	chr12:121649200-121659600	Weak transcription	Fetal Brain Female	brain
29	chr12:121649400-121654200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:121649400-121654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:121649400-121654600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:121649400-121654800	Weak transcription	Brain Anterior Caudate	brain
33	chr12:121649400-121654800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:121649400-121654800	Weak transcription	Fetal Thymus	thymus
35	chr12:121649400-121655000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:121649400-121655800	Weak transcription	Right Ventricle	heart
37	chr12:121649400-121657000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:121649400-121657200	Genic enhancers	Fetal Intestine Small	intestine
39	chr12:121649400-121660400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:121649400-121660600	Weak transcription	Brain Angular Gyrus	brain
41	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:121649600-121654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:121649600-121655000	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:121649600-121660600	Weak transcription	Dnd41	blood
45	chr12:121650000-121660800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:121650000-121660800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:121650200-121654400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:121650200-121654600	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:121650800-121653800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:121651000-121653200	Genic enhancers	Primary T cells fromperipheralblood	blood

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