Variant report

Variant	rs17036229
Chromosome Location	chr2:47304095-47304096
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47212859..47216615-chr2:47301507..47304672,4	MCF-7	breast:
2	chr2:47303169..47307562-chr2:47312603..47317235,6	MCF-7	breast:
3	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
4	chr2:47299662..47307017-chr2:47401146..47405423,11	MCF-7	breast:
5	chr2:47302688..47305561-chr2:47417562..47420065,2	MCF-7	breast:
6	chr2:47303567..47305650-chr2:47402642..47405179,3	MCF-7	breast:
7	chr2:47301037..47304852-chr2:47397378..47400468,3	MCF-7	breast:
8	chr2:47302270..47304198-chr2:47307298..47308850,2	MCF-7	breast:
9	chr2:47298364..47306534-chr2:47399903..47404660,8	K562	blood:
10	chr2:47303667..47305608-chr2:47307112..47308819,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17036223	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57047194	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57558077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57590657	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58098113	1.00[AMR][1000 genomes]
rs59510879	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72875111	1.00[AMR][1000 genomes]
rs72875114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877003	0.82[AFR][1000 genomes];1.00[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv984437	chr2:47270533-47307361	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47298000-47304400	Genic enhancers	Spleen	Spleen
2	chr2:47298800-47305200	Strong transcription	Thymus	Thymus
3	chr2:47299200-47304800	Strong transcription	Primary T cells from cord blood	blood
4	chr2:47299200-47306000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:47300600-47310400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:47301000-47304600	Enhancers	HSMM	muscle
7	chr2:47301000-47306600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:47301200-47304800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:47301200-47305200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:47301200-47305800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:47301600-47307200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:47301800-47304200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:47301800-47304600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:47302000-47304200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:47302000-47305400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:47302000-47306000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:47302000-47306200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:47302000-47307200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:47302000-47307400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:47302200-47304200	Strong transcription	Primary B cells from cord blood	blood
21	chr2:47302200-47304400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:47302200-47304600	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:47302200-47305400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:47302200-47307400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:47302200-47308400	Enhancers	Lung	lung
26	chr2:47302400-47304200	Enhancers	Brain Substantia Nigra	brain
27	chr2:47302400-47304800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:47302400-47305200	Enhancers	HUVEC	blood vessel
29	chr2:47302400-47305400	Enhancers	NH-A	brain
30	chr2:47302400-47306800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:47302400-47307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:47302400-47307600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:47302400-47308400	Enhancers	Placenta	Placenta
34	chr2:47302600-47304200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:47302600-47304400	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:47302600-47304400	Enhancers	Colon Smooth Muscle	Colon
37	chr2:47302600-47304600	Enhancers	Fetal Lung	lung
38	chr2:47302600-47304600	Enhancers	Left Ventricle	heart
39	chr2:47302600-47304600	Enhancers	Right Ventricle	heart
40	chr2:47302600-47304800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:47302600-47304800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:47302600-47304800	Enhancers	Fetal Heart	heart
43	chr2:47302600-47304800	Enhancers	HSMMtube	muscle
44	chr2:47302600-47305000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:47302600-47305000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:47302600-47305000	Enhancers	Osteobl	bone
47	chr2:47302600-47305200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:47302600-47305200	Enhancers	HMEC	breast
49	chr2:47302600-47305400	Enhancers	Brain Anterior Caudate	brain
50	chr2:47302600-47305800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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