Variant report

Variant	rs12053205
Chromosome Location	chr2:98489390-98489391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10432617	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10432627	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10432628	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10460480	0.81[ASN][1000 genomes]
rs1562293	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17033906	0.87[ASN][1000 genomes]
rs2278699	0.87[ASN][1000 genomes]
rs2289918	0.87[ASN][1000 genomes]
rs2289919	0.85[ASN][1000 genomes]
rs35321446	0.83[ASN][1000 genomes]
rs56293187	0.87[ASN][1000 genomes]
rs56948188	0.82[ASN][1000 genomes]
rs57831860	0.87[ASN][1000 genomes]
rs58019724	0.98[ASN][1000 genomes]
rs58511420	0.87[ASN][1000 genomes]
rs59562515	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61228852	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62157588	0.82[ASN][1000 genomes]
rs6711959	0.87[ASN][1000 genomes]
rs72951160	0.87[ASN][1000 genomes]
rs73963109	0.87[ASN][1000 genomes]
rs746003	0.87[ASN][1000 genomes]
rs746004	0.87[ASN][1000 genomes]
rs7565744	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:98478600-98502200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:98478600-98502800	Weak transcription	Colonic Mucosa	Colon
4	chr2:98478600-98502800	Weak transcription	Pancreas	Pancrea
5	chr2:98478800-98489800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:98486200-98489400	Weak transcription	Lung	lung
7	chr2:98486200-98490000	Weak transcription	Gastric	stomach
8	chr2:98486400-98496800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:98486600-98490000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:98486600-98490200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:98486800-98489600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:98486800-98490400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:98487200-98489800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:98487200-98502800	Weak transcription	Aorta	Aorta
15	chr2:98487400-98490400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:98487400-98502400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:98487400-98502600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:98487600-98490200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:98487600-98501000	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:98487800-98489600	Enhancers	Spleen	Spleen
21	chr2:98487800-98489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:98487800-98490400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:98487800-98495400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:98487800-98496800	Weak transcription	Fetal Thymus	thymus
25	chr2:98487800-98501000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:98488000-98489600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr2:98488000-98490200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr2:98488000-98490200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:98488000-98490600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:98488000-98493800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:98488000-98495800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:98488200-98496000	Weak transcription	Thymus	Thymus
33	chr2:98488200-98502200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:98488200-98502200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:98488200-98502600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:98488400-98490200	ZNF genes & repeats	Fetal Stomach	stomach
37	chr2:98488400-98490400	Weak transcription	Hela-S3	cervix
38	chr2:98488400-98498600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:98488400-98501000	Weak transcription	HSMM	muscle
40	chr2:98488400-98502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:98488400-98502000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:98488400-98502000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:98488400-98502200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:98488400-98502800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:98488400-98502800	Weak transcription	NHDF-Ad	bronchial
46	chr2:98488400-98502800	Weak transcription	NHLF	lung
47	chr2:98488600-98489400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:98488600-98490000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:98488600-98490200	Enhancers	Left Ventricle	heart
50	chr2:98488600-98490400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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