Variant report

Variant	rs7295027
Chromosome Location	chr12:49073156-49073157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49072667..49077768-chr12:49107571..49112359,8	MCF-7	breast:
2	chr12:49072707..49077771-chr12:49103757..49111723,15	MCF-7	breast:
3	chr12:49071716..49073261-chr12:49207426..49209393,2	MCF-7	breast:
4	chr12:49059501..49061624-chr12:49071853..49074328,2	K562	blood:
5	chr12:49052583..49059422-chr12:49071692..49076510,9	K562	blood:
6	chr12:49052650..49057544-chr12:49071692..49076123,6	K562	blood:
7	chr12:49072639..49079132-chr12:49108469..49112073,12	K562	blood:
8	chr12:49071141..49073350-chr12:49108510..49110706,2	K562	blood:
9	chr12:49049997..49051694-chr12:49071950..49074374,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction
ENSG00000206612	Chromatin interaction
ENSG00000207313	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000129315	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10875851	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11168620	1.00[ASN][1000 genomes]
rs11168659	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168660	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168661	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168664	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168667	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168680	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168690	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168691	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168692	0.91[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168693	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168694	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168695	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168699	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168700	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168701	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168708	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11168715	1.00[ASN][1000 genomes]
rs11168717	1.00[ASN][1000 genomes]
rs11168718	1.00[ASN][1000 genomes]
rs11168719	1.00[ASN][1000 genomes]
rs11168722	1.00[ASN][1000 genomes]
rs11168727	1.00[ASN][1000 genomes]
rs11168781	1.00[ASN][1000 genomes]
rs11832160	0.96[CEU][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11837643	1.00[ASN][1000 genomes]
rs12366919	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369279	1.00[ASN][1000 genomes]
rs17123362	1.00[ASN][1000 genomes]
rs17834622	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895994	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409084	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3013	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132370	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405363	1.00[ASN][1000 genomes]
rs55644947	1.00[ASN][1000 genomes]
rs56182935	1.00[ASN][1000 genomes]
rs61942011	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61942012	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942013	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942014	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942015	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942016	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942018	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942047	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942048	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942049	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942051	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942052	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61942053	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61942058	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61942059	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943193	1.00[ASN][1000 genomes]
rs61943194	1.00[ASN][1000 genomes]
rs6580694	0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7138342	1.00[ASN][1000 genomes]
rs7294389	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295138	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296987	1.00[ASN][1000 genomes]
rs7303113	0.96[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73105786	1.00[ASN][1000 genomes]
rs74088163	1.00[ASN][1000 genomes]
rs7486636	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964801	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966343	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967175	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967542	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973954	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975102	0.92[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs7977935	1.00[ASN][1000 genomes]
rs7979508	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953673	1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7295027	C12orf41	cis	parietal	SCAN
rs7295027	FKBP11	cis	cerebellum	SCAN
rs7295027	C12orf41	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
2	chr12:49045600-49073400	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr12:49058400-49074000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:49065800-49074600	Weak transcription	Aorta	Aorta
5	chr12:49066400-49075000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:49066600-49073400	Weak transcription	Gastric	stomach
7	chr12:49067600-49073400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:49068200-49073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:49069400-49074200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:49069800-49073800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:49070400-49073400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:49070400-49073400	Weak transcription	Fetal Intestine Small	intestine
13	chr12:49070400-49073600	Weak transcription	Spleen	Spleen
14	chr12:49070400-49075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:49070600-49074600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
16	chr12:49070800-49074400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:49070800-49075000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:49071000-49073200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:49071000-49073200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
20	chr12:49071000-49073400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:49071000-49073400	Genic enhancers	NHDF-Ad	bronchial
22	chr12:49071000-49073800	Genic enhancers	Adipose Nuclei	Adipose
23	chr12:49071000-49074000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:49071000-49074000	Genic enhancers	Primary B cells from cord blood	blood
25	chr12:49071000-49074200	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:49071000-49074600	Genic enhancers	Colon Smooth Muscle	Colon
27	chr12:49071200-49073200	Genic enhancers	HSMM	muscle
28	chr12:49071200-49074000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:49071200-49074000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:49071200-49074400	Transcr. at gene 5' and 3'	Hela-S3	cervix
31	chr12:49071200-49074800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:49071400-49073400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:49071600-49073800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:49071600-49074200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
35	chr12:49071600-49074200	Genic enhancers	Duodenum Mucosa	Duodenum
36	chr12:49071600-49074400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:49071600-49074400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:49071600-49074800	Genic enhancers	Osteobl	bone
39	chr12:49071800-49073400	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:49071800-49073600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
41	chr12:49071800-49073800	Transcr. at gene 5' and 3'	HMEC	breast
42	chr12:49071800-49074000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:49071800-49074200	Genic enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:49071800-49074400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:49071800-49074400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:49071800-49074400	Genic enhancers	Fetal Lung	lung
47	chr12:49071800-49074600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr12:49071800-49074800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:49072000-49074000	Genic enhancers	Liver	Liver
50	chr12:49072000-49074200	Genic enhancers	Brain Hippocampus Middle	brain

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