Variant report

Variant	rs17012773
Chromosome Location	chr2:33520955-33520956
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	chr2:33514241..33517210-chr2:33520355..33523749,3	K562	blood:
2	chr2:33513308..33515964-chr2:33519124..33522873,3	K562	blood:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17012718	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012763	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17012778	0.81[YRI][hapmap]
rs17012805	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038524	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs56136117	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59830763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59953160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60912737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151459	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730165	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73925006	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73925010	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73925680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584010	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1011020	chr2:33508811-33527784	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:33505000-33526200	Weak transcription	Placenta	Placenta
5	chr2:33507000-33528600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:33516400-33522000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:33517000-33521400	Weak transcription	Right Atrium	heart
8	chr2:33517000-33522000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:33517000-33522000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:33517000-33522000	Weak transcription	Left Ventricle	heart
11	chr2:33517000-33522800	Weak transcription	K562	blood
12	chr2:33517000-33524600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:33517000-33525400	Weak transcription	Right Ventricle	heart
14	chr2:33517000-33526600	Weak transcription	Fetal Stomach	stomach
15	chr2:33517000-33528800	Weak transcription	Psoas Muscle	Psoas
16	chr2:33517000-33529200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:33517000-33529400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:33517000-33529600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:33517200-33522200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:33517200-33522800	Weak transcription	HSMMtube	muscle
21	chr2:33517200-33525800	Weak transcription	Liver	Liver
22	chr2:33517200-33533000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:33517200-33533200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:33517200-33537400	Weak transcription	Fetal Brain Male	brain
25	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
26	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
27	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
28	chr2:33517600-33532600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:33517600-33532800	Weak transcription	Brain Anterior Caudate	brain
30	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:33518200-33522000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:33518200-33522000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:33518400-33521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:33518400-33521000	Weak transcription	NHLF	lung
35	chr2:33518400-33522800	Weak transcription	NHDF-Ad	bronchial
36	chr2:33518600-33521000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:33518600-33521400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:33518600-33521600	Weak transcription	Ovary	ovary
39	chr2:33518600-33521600	Strong transcription	Osteobl	bone
40	chr2:33518600-33521800	Weak transcription	HUVEC	blood vessel
41	chr2:33518600-33522000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:33518600-33522000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:33519000-33521000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:33520400-33521400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:33520400-33521400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:33520400-33522000	Strong transcription	NH-A	brain
47	chr2:33520400-33522200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:33520600-33521800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:33520800-33521400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr2:33520800-33522000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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