Variant report

Variant	rs57213829
Chromosome Location	chr2:97152162-97152163
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	chr2:97137689..97140404-chr2:97150128..97152232,2	K562	blood:
2	chr2:97148964..97151010-chr2:97152082..97154631,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12611936	1.00[AMR][1000 genomes]
rs12612136	1.00[AMR][1000 genomes]
rs12614623	1.00[AMR][1000 genomes]
rs12616326	1.00[AMR][1000 genomes]
rs12619490	1.00[AMR][1000 genomes]
rs12619919	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12620768	1.00[AMR][1000 genomes]
rs12621163	1.00[AMR][1000 genomes]
rs12621688	1.00[AMR][1000 genomes]
rs2276647	1.00[AMR][1000 genomes]
rs2290908	1.00[AMR][1000 genomes]
rs57319731	1.00[AMR][1000 genomes]
rs57367779	1.00[AMR][1000 genomes]
rs58132887	1.00[AMR][1000 genomes]
rs58152078	1.00[AMR][1000 genomes]
rs59525841	1.00[AMR][1000 genomes]
rs59911784	1.00[AMR][1000 genomes]
rs59939559	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60013962	1.00[AMR][1000 genomes]
rs60020980	1.00[AMR][1000 genomes]
rs60193293	1.00[ASN][1000 genomes]
rs60302421	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60596893	1.00[AMR][1000 genomes]
rs60893927	1.00[AMR][1000 genomes]
rs61096003	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97149600-97152400	Enhancers	Fetal Brain Male	brain
2	chr2:97150800-97152400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:97151000-97152200	Enhancers	Spleen	Spleen
4	chr2:97151000-97152400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr2:97151000-97152400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr2:97151000-97152800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:97151000-97152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:97151200-97152200	Enhancers	Dnd41	blood
9	chr2:97151200-97152400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:97151200-97152600	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:97151200-97152800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:97151200-97152800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:97151400-97152200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:97151400-97152200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr2:97151400-97152200	Active TSS	Osteobl	bone
16	chr2:97151400-97152400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:97151400-97152400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:97151400-97152400	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr2:97151400-97152600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr2:97151400-97152600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:97151400-97152600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:97151400-97152600	Active TSS	Right Atrium	heart
23	chr2:97151400-97152800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:97151600-97152200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:97151600-97152200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:97151600-97152200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:97151600-97152200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr2:97151600-97152200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr2:97151600-97152200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:97151600-97152200	Flanking Active TSS	Placenta	Placenta
31	chr2:97151600-97152200	Active TSS	Ovary	ovary
32	chr2:97151600-97152200	Active TSS	HSMMtube	muscle
33	chr2:97151600-97152200	Active TSS	NHDF-Ad	bronchial
34	chr2:97151600-97152400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr2:97151600-97152400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr2:97151600-97152400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:97151600-97152400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr2:97151600-97152400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr2:97151600-97152400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr2:97151600-97152400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:97151600-97152400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:97151600-97152400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:97151600-97152400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:97151600-97152400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:97151600-97152400	Active TSS	Aorta	Aorta
46	chr2:97151600-97152400	Active TSS	Brain Angular Gyrus	brain
47	chr2:97151600-97152400	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:97151600-97152400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:97151600-97152400	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr2:97151600-97152400	Active TSS	Pancreatic Islets	Pancreatic Islet

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