Variant report

Variant	rs35382885
Chromosome Location	chr12:56613840-56613841
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr12:56613707-56613907	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56551311..56554280-chr12:56613250..56616267,3	MCF-7	breast:
2	chr12:56509441..56516191-chr12:56612345..56620104,13	K562	blood:
3	chr12:56579883..56589030-chr12:56613342..56620091,21	MCF-7	breast:
4	chr12:56613473..56616286-chr12:56659565..56662272,3	MCF-7	breast:
5	chr12:56473421..56475215-chr12:56613648..56616195,2	MCF-7	breast:
6	chr12:56606878..56611530-chr12:56612338..56617285,8	K562	blood:
7	chr12:56613428..56616979-chr12:56726022..56728314,3	MCF-7	breast:
8	chr12:56600189..56603854-chr12:56613542..56616774,5	MCF-7	breast:
9	chr12:56508592..56516532-chr12:56613723..56619321,16	MCF-7	breast:
10	chr12:56613576..56617252-chr12:56649934..56653548,9	MCF-7	breast:
11	chr12:56609459..56611530-chr12:56611977..56613892,2	MCF-7	breast:
12	chr12:56613710..56617049-chr12:56651125..56653434,4	K562	blood:

No data

Variant related genes	Relation type
NABP2	TF binding region
RNF41	TF binding region
ENSG00000229117	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000258199	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000266023	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000196465	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11575218	1.00[MEX][hapmap]
rs1619653	1.00[MEX][hapmap]
rs1689507	1.00[MEX][hapmap]
rs17118576	1.00[MEX][hapmap]
rs1995742	1.00[MEX][hapmap]
rs2066811	1.00[MEX][hapmap]
rs2450104	1.00[MEX][hapmap]
rs2456445	1.00[MEX][hapmap]
rs2629449	1.00[MEX][hapmap]
rs705706	1.00[MEX][hapmap]
rs7301099	1.00[MEX][hapmap]
rs773644	1.00[MEX][hapmap]

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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 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	chr12:56585000-56614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56599200-56614000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56601800-56614400	Weak transcription	Psoas Muscle	Psoas
4	chr12:56607000-56614800	Weak transcription	Small Intestine	intestine
5	chr12:56607800-56614200	Weak transcription	Stomach Mucosa	stomach
6	chr12:56607800-56614400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:56607800-56614400	Weak transcription	NHDF-Ad	bronchial
8	chr12:56607800-56614600	Weak transcription	Esophagus	oesophagus
9	chr12:56608000-56614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:56608000-56614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:56608000-56614400	Weak transcription	HMEC	breast
12	chr12:56608000-56614600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:56609000-56614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:56609200-56614000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:56609200-56614200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:56609200-56614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:56609200-56614400	Weak transcription	HepG2	liver
18	chr12:56609200-56614600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:56609200-56614600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:56610400-56614000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:56610400-56614400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:56610400-56614400	Weak transcription	NH-A	brain
23	chr12:56610600-56614000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:56610600-56614000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:56610600-56614000	Weak transcription	Colonic Mucosa	Colon
26	chr12:56610600-56614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:56610600-56614200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:56610600-56614200	Weak transcription	Pancreas	Pancrea
29	chr12:56610600-56614200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:56610600-56614200	Weak transcription	HSMMtube	muscle
31	chr12:56610600-56614400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:56610600-56614400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:56610600-56614400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:56610600-56614400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:56610600-56614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:56610600-56614400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:56610600-56614400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:56610600-56614400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:56610600-56614400	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:56610600-56614400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:56610600-56614400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:56610600-56614400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:56610600-56614400	Weak transcription	Fetal Kidney	kidney
44	chr12:56610600-56614400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:56610600-56614400	Weak transcription	Right Ventricle	heart
46	chr12:56610600-56614400	Weak transcription	A549	lung
47	chr12:56610600-56614400	Weak transcription	GM12878-XiMat	blood
48	chr12:56610600-56614400	Weak transcription	K562	blood
49	chr12:56610600-56614400	Weak transcription	NHEK	skin
50	chr12:56610600-56614600	Weak transcription	Aorta	Aorta

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