Variant report

Variant	rs199892058
Chromosome Location	chr12:46175155-46175156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46174845..46176940-chr12:46178634..46181295,2	MCF-7	breast:
2	chr12:46123687..46125328-chr12:46172888..46175299,2	K562	blood:
3	chr12:46173636..46175276-chr12:46381483..46383526,2	K562	blood:
4	chr12:46118815..46121189-chr12:46174035..46176662,2	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv973961	chr12:46153815-46175394	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3502075	chr12:46160578-46175160	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3372521	chr12:46160588-46175158	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3502086	chr12:46160592-46175156	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3516512	chr12:46174639-46175205	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3386997	chr12:46174659-46175175	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3516513	chr12:46174698-46175156	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3379296	chr12:46174709-46175430	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3502097	chr12:46175148-46176142	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3325128	chr12:46175148-46224560	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46132000-46205200	Weak transcription	HSMM	muscle
2	chr12:46149600-46215400	Weak transcription	Fetal Kidney	kidney
3	chr12:46157400-46199600	Weak transcription	HepG2	liver
4	chr12:46162600-46175200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:46163000-46175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:46164400-46187800	Weak transcription	Fetal Thymus	thymus
7	chr12:46164400-46193600	Weak transcription	Fetal Stomach	stomach
8	chr12:46164600-46187800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:46164600-46187800	Weak transcription	GM12878-XiMat	blood
10	chr12:46164600-46193400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:46164600-46205200	Weak transcription	Dnd41	blood
12	chr12:46164600-46230000	Weak transcription	Thymus	Thymus
13	chr12:46164800-46193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:46165200-46187800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:46165400-46176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:46166200-46181200	Weak transcription	Hela-S3	cervix
17	chr12:46166800-46199800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:46167600-46205200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:46168600-46193400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:46168800-46181000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:46168800-46193600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:46169000-46177000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:46169000-46178400	Weak transcription	Gastric	stomach
24	chr12:46169000-46181800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:46169000-46182600	Weak transcription	NHDF-Ad	bronchial
26	chr12:46169000-46187800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:46169000-46197600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:46169000-46202400	Weak transcription	Aorta	Aorta
29	chr12:46169000-46202400	Weak transcription	Left Ventricle	heart
30	chr12:46169000-46202400	Weak transcription	Psoas Muscle	Psoas
31	chr12:46169000-46205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:46169000-46208000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:46169000-46215400	Weak transcription	Fetal Lung	lung
34	chr12:46169200-46182800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:46169200-46190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:46170000-46177200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:46170000-46184200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:46170200-46175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:46170200-46175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:46170200-46176000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:46170200-46182400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:46170200-46183000	Weak transcription	Brain Substantia Nigra	brain
43	chr12:46170200-46193600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:46170400-46182800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:46174000-46182800	Weak transcription	A549	lung
46	chr12:46174200-46205000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:46175000-46175200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:46175000-46175200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr12:46175000-46175200	Weak transcription	Stomach Mucosa	stomach
50	chr12:46175000-46175600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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