Variant report

Variant	rs11112173
Chromosome Location	chr12:105095232-105095233
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	chr12:105094562..105097147-chr12:105106681..105108235,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10861270	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs11610462	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv560051	chr12:105092213-105110554	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112173	MTERFD3	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105080400-105131800	Weak transcription	NHEK	skin
3	chr12:105083600-105103600	Weak transcription	Placenta	Placenta
4	chr12:105085000-105097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:105086200-105096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:105086400-105095600	Weak transcription	Fetal Heart	heart
7	chr12:105086400-105104400	Weak transcription	A549	lung
8	chr12:105086800-105103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:105087800-105095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105087800-105096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:105089000-105105600	Weak transcription	Esophagus	oesophagus
12	chr12:105089600-105095400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:105089800-105096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:105089800-105097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:105090000-105095400	Weak transcription	Left Ventricle	heart
16	chr12:105090000-105095600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:105090000-105095600	Weak transcription	Right Ventricle	heart
18	chr12:105090000-105095800	Weak transcription	Fetal Stomach	stomach
19	chr12:105090000-105096000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:105090000-105096200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:105090000-105096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:105090000-105096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:105090000-105096400	Weak transcription	Primary T cells from cord blood	blood
24	chr12:105090000-105096400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:105090000-105096400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:105090000-105097400	Weak transcription	Fetal Kidney	kidney
27	chr12:105090000-105097800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:105090000-105102000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:105090000-105104400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:105090000-105104600	Weak transcription	Fetal Brain Female	brain
31	chr12:105090000-105104600	Weak transcription	HMEC	breast
32	chr12:105090200-105113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:105090400-105097000	Weak transcription	Fetal Thymus	thymus
34	chr12:105090400-105113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:105090600-105097800	Enhancers	NHDF-Ad	bronchial
36	chr12:105091800-105096200	Enhancers	NHLF	lung
37	chr12:105092200-105095400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:105092200-105095600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:105092200-105096600	Weak transcription	Spleen	Spleen
40	chr12:105092200-105104400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:105092400-105095400	Weak transcription	Lung	lung
42	chr12:105093000-105096400	Weak transcription	Thymus	Thymus
43	chr12:105093200-105100800	Weak transcription	NH-A	brain
44	chr12:105093200-105103400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:105093400-105099000	Strong transcription	Dnd41	blood
46	chr12:105093600-105095400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:105093600-105096000	Weak transcription	Brain Hippocampus Middle	brain
48	chr12:105093600-105100400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:105093800-105095600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:105093800-105096200	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links