Variant report

Variant	rs112025164
Chromosome Location	chr12:56525967-56525968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56525794-56526332	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:56525251-56526042	K562	blood:	n/a	n/a
3	POLR2A	chr12:56525914-56526626	K562	blood:	n/a	n/a
4	POLR2A	chr12:56525902-56526683	K562	blood:	n/a	n/a
5	POLR2A	chr12:56525808-56526556	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:56525959-56525991	K562	blood:	n/a	n/a
7	POLR2A	chr12:56525929-56526129	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:56525778-56526109	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56518356..56534331-chr12:56534720..56548698,49	MCF-7	breast:
2	chr12:56508092..56528020-chr12:56536122..56568603,201	MCF-7	breast:
3	chr12:56524733..56527409-chr12:56558482..56560316,2	MCF-7	breast:
4	chr12:56516279..56526040-chr12:56550254..56554953,37	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258317	TF binding region
ENSG00000139613	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000257809	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	esv10159	chr12:56524824-56527928	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56523200-56533400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56523600-56526200	Weak transcription	Psoas Muscle	Psoas
3	chr12:56523600-56527000	Weak transcription	Small Intestine	intestine
4	chr12:56523600-56537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:56523800-56527400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:56523800-56537000	Weak transcription	Right Atrium	heart
7	chr12:56523800-56539400	Strong transcription	NHEK	skin
8	chr12:56524000-56526600	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr12:56524000-56528800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:56524000-56537000	Strong transcription	Fetal Intestine Small	intestine
11	chr12:56524200-56526400	Genic enhancers	Primary B cells from cord blood	blood
12	chr12:56524200-56526400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:56524200-56528000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:56524200-56528200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr12:56524200-56528200	Strong transcription	Brain Anterior Caudate	brain
16	chr12:56524200-56528200	Strong transcription	Left Ventricle	heart
17	chr12:56524200-56528400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:56524200-56528400	Strong transcription	HUVEC	blood vessel
19	chr12:56524200-56529200	Strong transcription	Brain Hippocampus Middle	brain
20	chr12:56524200-56539200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:56524200-56539200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:56524200-56539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:56524200-56539400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:56524200-56539400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:56524200-56539400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:56524200-56539400	Strong transcription	NH-A	brain
27	chr12:56524400-56526600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:56524400-56527800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:56524400-56528000	Strong transcription	A549	lung
30	chr12:56524400-56528200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:56524400-56528200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:56524400-56528200	Strong transcription	Aorta	Aorta
33	chr12:56524400-56528200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:56524400-56528200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr12:56524400-56528200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:56524400-56528200	Strong transcription	Esophagus	oesophagus
37	chr12:56524400-56528200	Strong transcription	Fetal Kidney	kidney
38	chr12:56524400-56528400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:56524400-56528400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:56524400-56528400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:56524400-56528400	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:56524400-56528400	Strong transcription	Right Ventricle	heart
43	chr12:56524400-56528800	Strong transcription	Osteobl	bone
44	chr12:56524400-56529000	Strong transcription	NHLF	lung
45	chr12:56524400-56535000	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr12:56524400-56535200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:56524400-56535200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr12:56524400-56535400	Strong transcription	Spleen	Spleen
49	chr12:56524400-56536600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:56524400-56536800	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links