Variant report

Variant	rs2357921
Chromosome Location	chr1:210858222-210858223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10494928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11119571	0.81[CHB][hapmap]
rs11119575	0.81[CHB][hapmap]
rs12122565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12123159	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12125545	0.91[JPT][hapmap]
rs12126038	0.86[ASN][1000 genomes]
rs12127398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12141923	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17188416	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17188506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2226023	0.81[CHB][hapmap]
rs4628571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60195529	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv468083	chr1:210854815-210876192	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv549123	chr1:210854815-210876192	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210835400-210863200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:210837800-210859800	Weak transcription	Right Ventricle	heart
3	chr1:210838000-210880400	Weak transcription	Gastric	stomach
4	chr1:210845400-210866000	Weak transcription	Spleen	Spleen
5	chr1:210846000-210865600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:210846200-210862400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:210846200-210865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:210846400-210884600	Weak transcription	Ovary	ovary
9	chr1:210847000-210860200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:210847600-210862200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:210852800-210860400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:210855200-210859400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:210855400-210858800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:210855800-210861800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:210856000-210860600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:210856000-210863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:210856200-210862000	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:210856200-210864200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:210857000-210859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:210857000-210859800	Weak transcription	HSMM	muscle
21	chr1:210857000-210864800	Weak transcription	Fetal Stomach	stomach
22	chr1:210857200-210882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:210857400-210859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:210857400-210864000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:210857800-210863200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:210857800-210870800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:210858000-210858600	Flanking Active TSS	GM12878-XiMat	blood
28	chr1:210858000-210864800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:210858000-210880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:210858200-210859000	Strong transcription	HSMMtube	muscle

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