Variant report

Variant	rs4149824
Chromosome Location	chr11:65084809-65084810
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65082224..65084911-chr11:65099875..65102878,3	K562	blood:
2	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
3	chr11:65049333..65051598-chr11:65082376..65084933,2	K562	blood:
4	chr11:65081201..65083940-chr11:65084529..65087415,2	K562	blood:
5	chr11:65082396..65084824-chr11:65098924..65101432,3	MCF-7	breast:
6	chr11:65082453..65085480-chr11:65264257..65268362,4	K562	blood:
7	chr11:65045088..65048799-chr11:65081591..65084821,5	MCF-7	breast:
8	chr11:65081241..65085742-chr11:65099388..65103053,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000014138	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000173825	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17743381	1.00[YRI][hapmap]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60315122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][1000 genomes]
rs769438	1.00[YRI][hapmap]
rs769439	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
6	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65079200-65085400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:65081400-65085000	Active TSS	Right Atrium	heart
3	chr11:65081400-65085000	Active TSS	NHLF	lung
4	chr11:65081400-65085400	Active TSS	NHDF-Ad	bronchial
5	chr11:65081600-65085000	Active TSS	Fetal Kidney	kidney
6	chr11:65081600-65085000	Active TSS	Left Ventricle	heart
7	chr11:65081800-65085000	Active TSS	Psoas Muscle	Psoas
8	chr11:65082000-65085000	Active TSS	HSMMtube	muscle
9	chr11:65082000-65085200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:65082600-65085200	Enhancers	Fetal Brain Male	brain
11	chr11:65083200-65085200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:65083200-65085200	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr11:65083200-65093400	Weak transcription	Aorta	Aorta
14	chr11:65083400-65085000	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:65083400-65085000	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr11:65083400-65085000	Flanking Active TSS	Ovary	ovary
17	chr11:65083400-65085000	Flanking Active TSS	HepG2	liver
18	chr11:65083400-65085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:65083400-65085200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:65083400-65085200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr11:65083400-65085200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:65083400-65085200	Flanking Active TSS	Hela-S3	cervix
23	chr11:65083400-65085200	Flanking Active TSS	HMEC	breast
24	chr11:65083400-65085200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr11:65083400-65085200	Flanking Active TSS	Osteobl	bone
26	chr11:65083400-65085400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:65083400-65085400	Flanking Active TSS	HUVEC	blood vessel
28	chr11:65083400-65085400	Flanking Active TSS	NHEK	skin
29	chr11:65083400-65087800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:65083600-65085000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:65083600-65085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:65083600-65085000	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr11:65083600-65085200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:65083600-65085200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:65083600-65085200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:65083600-65085200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:65083600-65085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:65083600-65085200	Enhancers	Liver	Liver
39	chr11:65083600-65085200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:65083600-65085200	Enhancers	Pancreas	Pancrea
41	chr11:65083600-65096600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:65083800-65085200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:65083800-65085200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:65083800-65085200	Enhancers	Brain Germinal Matrix	brain
45	chr11:65083800-65088400	Weak transcription	Small Intestine	intestine
46	chr11:65083800-65096600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:65084000-65085000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr11:65084000-65085200	Enhancers	K562	blood
49	chr11:65084000-65088400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:65084200-65085000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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