Variant report

Variant	rs59398186
Chromosome Location	chr2:97240002-97240003
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97239640..97242387-chr2:97301860..97304699,2	K562	blood:
2	chr2:97238410..97240603-chr2:97243813..97245458,2	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10183164	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185002	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199227	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203766	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209315	0.82[ASN][1000 genomes]
rs13384114	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13389475	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13393729	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13395011	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13398740	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405842	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292942	0.84[EUR][1000 genomes]
rs35715176	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55687728	0.92[ASN][1000 genomes]
rs55716397	0.92[ASN][1000 genomes]
rs59426746	0.84[EUR][1000 genomes]
rs60326991	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61063398	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6718340	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6732115	0.84[EUR][1000 genomes]
rs6733589	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753713	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72939379	0.92[ASN][1000 genomes]
rs72941209	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72941214	0.97[ASN][1000 genomes]
rs72941219	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747757	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7604736	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607990	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	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
8	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
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97220400-97258000	Weak transcription	Ovary	ovary
2	chr2:97220600-97257000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:97220800-97257400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:97223800-97256000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:97228800-97255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:97231600-97250200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:97232400-97242000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:97232600-97241200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:97233000-97257800	Weak transcription	Gastric	stomach
10	chr2:97234400-97241600	Weak transcription	K562	blood
11	chr2:97234600-97258200	Weak transcription	Aorta	Aorta
12	chr2:97235200-97250000	Weak transcription	Fetal Brain Female	brain
13	chr2:97235600-97249800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:97237000-97257000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:97237600-97249800	Weak transcription	Left Ventricle	heart
16	chr2:97237800-97257800	Weak transcription	Thymus	Thymus
17	chr2:97238000-97257000	Weak transcription	Fetal Lung	lung
18	chr2:97238200-97258200	Weak transcription	Spleen	Spleen
19	chr2:97238400-97249000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:97238400-97257400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:97239000-97257400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:97239200-97253000	Weak transcription	Lung	lung
23	chr2:97239400-97241400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:97239400-97249800	Weak transcription	Adipose Nuclei	Adipose
25	chr2:97239400-97252800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:97239400-97257600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:97239600-97251800	Weak transcription	Fetal Stomach	stomach
28	chr2:97239600-97258800	Weak transcription	Right Ventricle	heart

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