Variant report

Variant	rs342057
Chromosome Location	chr2:20681094-20681095
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	chr2:20648526..20656143-chr2:20680792..20689222,12	MCF-7	breast:
2	chr2:20645621..20648326-chr2:20680840..20682553,2	K562	blood:

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11898154	0.82[CEU][hapmap]
rs13021908	0.82[CEU][hapmap]
rs342107	0.80[CEU][hapmap]
rs342114	0.81[CEU][hapmap]
rs342116	0.81[CEU][hapmap]
rs342118	0.84[CEU][hapmap]
rs342123	0.80[CEU][hapmap]
rs342126	0.80[CEU][hapmap]
rs4666401	0.82[CEU][hapmap]
rs674534	0.81[CEU][hapmap]

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	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer 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	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873722	chr2:20652507-20705910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv873723	chr2:20678000-20720237	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv873724	chr2:20678000-20757286	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv2347144	chr2:20681094-20681095	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20666400-20681800	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:20672000-20681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:20673000-20687000	Weak transcription	Spleen	Spleen
4	chr2:20673400-20682000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:20673400-20683400	Weak transcription	Esophagus	oesophagus
6	chr2:20674400-20682000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:20674600-20681800	Weak transcription	Fetal Kidney	kidney
8	chr2:20674600-20686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:20674800-20682000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:20674800-20682000	Weak transcription	Left Ventricle	heart
11	chr2:20675400-20681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:20678200-20681600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:20679200-20683000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:20679200-20684000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:20679400-20681800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:20679400-20683400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:20679600-20682000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:20679800-20682200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:20679800-20683600	Weak transcription	Psoas Muscle	Psoas
20	chr2:20680000-20682800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:20680200-20681600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:20680800-20686200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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