Variant report

Variant	rs10197268
Chromosome Location	chr2:58106785-58106786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58097977..58100316-chr2:58105031..58107914,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10172295	1.00[YRI][hapmap]
rs10179365	0.94[ASN][1000 genomes]
rs10187670	0.89[ASN][1000 genomes]
rs11887238	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13384219	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13405071	0.94[ASN][1000 genomes]
rs17231440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17828225	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030237	1.00[YRI][hapmap]
rs4672226	1.00[YRI][hapmap]
rs6717480	1.00[YRI][hapmap]
rs73942239	0.97[EUR][1000 genomes];0.87[ASN][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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874199	chr2:58031249-58161520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58105600-58106800	Enhancers	Fetal Brain Male	brain
2	chr2:58105600-58108000	Weak transcription	Hela-S3	cervix
3	chr2:58105600-58108200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:58105800-58108200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:58105800-58109200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:58106000-58108000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:58106000-58108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:58106000-58108400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:58106000-58108600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:58106000-58109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:58106000-58113000	Weak transcription	Brain Germinal Matrix	brain
12	chr2:58106000-58113400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:58106000-58113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:58106000-58113400	Weak transcription	Pancreas	Pancrea
15	chr2:58106200-58106800	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:58106200-58107000	Enhancers	Brain Substantia Nigra	brain
17	chr2:58106200-58107400	Enhancers	Brain Hippocampus Middle	brain
18	chr2:58106200-58107800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:58106200-58108000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:58106200-58108000	Enhancers	GM12878-XiMat	blood
21	chr2:58106200-58108200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:58106200-58108200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:58106400-58108200	Weak transcription	Fetal Brain Female	brain
24	chr2:58106400-58109000	Weak transcription	HSMMtube	muscle
25	chr2:58106400-58113600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:58106600-58107000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:58106600-58107200	Enhancers	A549	lung

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