Variant report

Variant	rs11707229
Chromosome Location	chr3:48519639-48519640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48514357..48516464-chr3:48518099..48520580,2	K562	blood:
2	chr3:48519627..48521356-chr3:48540019..48542840,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164054	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11706087	0.93[EUR][1000 genomes]
rs11715496	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6442128	0.93[EUR][1000 genomes]
rs6783952	0.82[EUR][1000 genomes]
rs6807104	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1802114	chr3:48498822-48577670	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv590243	chr3:48505831-48519821	Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv590244	chr3:48505924-48519821	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv590245	chr3:48506222-48519821	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48514600-48535600	Weak transcription	Ovary	ovary
2	chr3:48514800-48541000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:48515000-48520400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:48515000-48522600	Weak transcription	Brain Anterior Caudate	brain
5	chr3:48515000-48532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:48515000-48533000	Weak transcription	NH-A	brain
7	chr3:48515000-48535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:48515000-48535600	Weak transcription	Brain Substantia Nigra	brain
9	chr3:48515000-48537400	Weak transcription	NHLF	lung
10	chr3:48515000-48539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:48515000-48539800	Weak transcription	Osteobl	bone
12	chr3:48515000-48540200	Weak transcription	NHDF-Ad	bronchial
13	chr3:48515000-48540400	Weak transcription	HSMM	muscle
14	chr3:48515000-48541000	Weak transcription	Aorta	Aorta
15	chr3:48515200-48519800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr3:48515200-48520000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:48515200-48520400	Weak transcription	Colonic Mucosa	Colon
18	chr3:48515200-48520400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:48515200-48520600	Weak transcription	NHEK	skin
20	chr3:48515200-48522000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:48515200-48535000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:48515200-48535000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:48515200-48535600	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:48515200-48535600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:48515200-48537400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:48515200-48538600	Weak transcription	Small Intestine	intestine
27	chr3:48515200-48539800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:48515200-48540000	Weak transcription	Brain Angular Gyrus	brain
29	chr3:48515200-48540200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:48515200-48540200	Weak transcription	HUVEC	blood vessel
31	chr3:48515200-48540400	Weak transcription	Fetal Brain Female	brain
32	chr3:48515200-48540600	Weak transcription	Brain Germinal Matrix	brain
33	chr3:48515200-48540600	Weak transcription	Fetal Lung	lung
34	chr3:48515400-48519800	Weak transcription	Primary T cells from cord blood	blood
35	chr3:48515400-48519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:48515400-48520200	Weak transcription	HMEC	breast
37	chr3:48515400-48520400	Weak transcription	Pancreas	Pancrea
38	chr3:48515400-48520400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:48515400-48535600	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:48515400-48538200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:48516000-48520000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:48516200-48520800	Strong transcription	Fetal Stomach	stomach
43	chr3:48516200-48520800	Strong transcription	Gastric	stomach
44	chr3:48516200-48521000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:48516200-48521000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:48516400-48520400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr3:48516400-48520600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr3:48516600-48521000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:48516600-48535000	Weak transcription	Fetal Intestine Large	intestine
50	chr3:48516600-48535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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