Variant report

Variant	rs11834905
Chromosome Location	chr12:46779437-46779438
allele	C/T
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	chr12:46657863..46660351-chr12:46778251..46780364,2	MCF-7	breast:
2	chr12:46495435..46496952-chr12:46778066..46780745,2	MCF-7	breast:
3	chr12:46776676..46779494-chr12:106750626..106752443,2	MCF-7	breast:
4	chr12:46778629..46780721-chr12:46796448..46799296,3	K562	blood:
5	chr12:46778280..46780427-chr12:46916200..46918090,2	MCF-7	breast:
6	chr12:46778324..46780021-chr12:46941195..46943535,2	K562	blood:
7	chr12:46778278..46780739-chr12:46799465..46801687,2	K562	blood:
8	chr12:46660942..46665525-chr12:46775819..46780739,12	MCF-7	breast:
9	chr12:46779000..46779557-chr22:29195382..29196089,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000013503	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10506267	1.00[EUR][1000 genomes]
rs10506268	1.00[EUR][1000 genomes]
rs11183454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183467	1.00[AMR][1000 genomes]
rs11183482	1.00[AMR][1000 genomes]
rs11183487	1.00[AMR][1000 genomes]
rs1125908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11830769	1.00[EUR][1000 genomes]
rs12299499	1.00[AMR][1000 genomes]
rs12317255	1.00[AMR][1000 genomes]
rs12320438	1.00[AMR][1000 genomes]
rs12321512	0.80[ASN][1000 genomes]
rs12321642	1.00[AMR][1000 genomes]
rs12322378	1.00[AMR][1000 genomes]
rs13377959	1.00[AMR][1000 genomes]
rs17096884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17096896	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17096922	1.00[AMR][1000 genomes]
rs2125646	1.00[EUR][1000 genomes]
rs2307062	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2307063	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2408509	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34280632	1.00[AMR][1000 genomes]
rs35875247	1.00[AMR][1000 genomes]
rs36010856	1.00[AMR][1000 genomes]
rs3742061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56036156	1.00[AMR][1000 genomes]
rs56196954	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56222195	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56314009	1.00[AMR][1000 genomes]
rs57067899	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57149475	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57271454	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57425661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58460251	1.00[AMR][1000 genomes]
rs58890669	1.00[AMR][1000 genomes]
rs59608605	1.00[AMR][1000 genomes]
rs60565802	1.00[AMR][1000 genomes]
rs60628240	1.00[EUR][1000 genomes]
rs60878594	1.00[AMR][1000 genomes]
rs60977966	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61232019	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61406609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61517444	1.00[EUR][1000 genomes]
rs73282532	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73282561	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73282591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73290315	1.00[AMR][1000 genomes]
rs74082254	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083707	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74083710	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74083758	0.81[AFR][1000 genomes]
rs74084031	1.00[EUR][1000 genomes]
rs7488027	1.00[AMR][1000 genomes]
rs7954314	1.00[AMR][1000 genomes]
rs7965618	1.00[AMR][1000 genomes]
rs7967889	1.00[AMR][1000 genomes]
rs7977319	1.00[AMR][1000 genomes]
rs923788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46776600-46779600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr12:46777600-46779600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:46777800-46779600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:46777800-46779600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:46777800-46779800	Flanking Active TSS	Hela-S3	cervix
6	chr12:46778000-46779600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:46778000-46779600	Flanking Active TSS	Liver	Liver
8	chr12:46778000-46781200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:46778200-46779600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:46778200-46779600	Flanking Active TSS	A549	lung
11	chr12:46778200-46779600	Flanking Active TSS	NHEK	skin
12	chr12:46778200-46784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:46778400-46779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:46778400-46779600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:46778400-46779600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:46778400-46779600	Enhancers	Placenta	Placenta
17	chr12:46778400-46779600	Enhancers	Small Intestine	intestine
18	chr12:46778400-46780200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:46778400-46780200	Weak transcription	Fetal Brain Male	brain
20	chr12:46778400-46780400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:46778400-46780600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:46778400-46780600	Enhancers	HSMMtube	muscle
23	chr12:46778400-46780800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:46778400-46780800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:46778400-46780800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:46778400-46781000	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:46778400-46781400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:46778400-46781400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:46778400-46781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:46778400-46781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:46778400-46781600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:46778400-46781600	Weak transcription	Colonic Mucosa	Colon
33	chr12:46778400-46781600	Enhancers	Fetal Stomach	stomach
34	chr12:46778400-46782200	Enhancers	Colon Smooth Muscle	Colon
35	chr12:46778400-46782800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:46778400-46782800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:46778400-46783400	Enhancers	Fetal Heart	heart
38	chr12:46778400-46784200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:46778400-46786800	Enhancers	NHDF-Ad	bronchial
40	chr12:46778600-46779600	Enhancers	Fetal Intestine Small	intestine
41	chr12:46778600-46779600	Enhancers	Fetal Thymus	thymus
42	chr12:46778600-46779800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr12:46778600-46780400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:46778600-46780600	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:46778600-46780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr12:46778600-46780800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:46778600-46780800	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:46778600-46780800	Enhancers	HSMM	muscle
49	chr12:46778600-46781000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:46778600-46781000	Enhancers	Fetal Intestine Large	intestine

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