Variant report

Variant	rs840171
Chromosome Location	chr2:20708292-20708293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20648738..20651594-chr2:20706144..20709413,3	MCF-7	breast:
2	chr2:20706657..20709567-chr2:20736270..20738956,2	MCF-7	breast:
3	chr2:20705997..20708328-chr2:20710442..20712863,2	K562	blood:
4	chr2:20707093..20712027-chr2:20723399..20727763,6	MCF-7	breast:
5	chr2:20647633..20649474-chr2:20706759..20709106,2	MCF-7	breast:
6	chr2:20703282..20708679-chr2:20709033..20714740,6	MCF-7	breast:
7	chr2:20707104..20709385-chr2:20722703..20724873,2	K562	blood:
8	chr2:20645420..20648317-chr2:20705967..20709253,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs342075	0.90[ASN][1000 genomes]
rs342135	0.85[ASN][1000 genomes]
rs342136	0.90[ASN][1000 genomes]
rs896734	0.90[ASN][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	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	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
8	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
9	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20692400-20715200	Weak transcription	Right Atrium	heart
2	chr2:20697000-20714000	Weak transcription	Right Ventricle	heart
3	chr2:20697200-20714200	Weak transcription	HSMMtube	muscle
4	chr2:20701200-20709000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:20701800-20709000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:20702600-20709000	Enhancers	Hela-S3	cervix
7	chr2:20702600-20709600	Weak transcription	A549	lung
8	chr2:20705600-20709000	Enhancers	HepG2	liver
9	chr2:20706200-20709600	Weak transcription	Fetal Kidney	kidney
10	chr2:20706400-20709200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:20706400-20709200	Weak transcription	NHEK	skin
12	chr2:20706600-20709000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:20706600-20709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:20706600-20715200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:20706600-20715800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:20706800-20709400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:20706800-20709400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:20706800-20709400	Weak transcription	Lung	lung
19	chr2:20707000-20709600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:20707200-20708800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:20707200-20709600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:20707200-20709800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:20707200-20713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:20707400-20708800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:20707400-20709000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:20707400-20709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:20707400-20709200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:20707400-20709400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:20707400-20709400	Weak transcription	K562	blood
30	chr2:20707400-20709600	Weak transcription	Osteobl	bone
31	chr2:20707400-20709800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:20707400-20709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:20707400-20710400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:20707400-20710400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:20707400-20710800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:20707400-20713800	Weak transcription	NH-A	brain
37	chr2:20707400-20714000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:20707400-20714000	Weak transcription	HSMM	muscle
39	chr2:20707400-20723400	Weak transcription	Spleen	Spleen
40	chr2:20707600-20713800	Weak transcription	NHLF	lung
41	chr2:20708000-20708400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:20708000-20709400	Weak transcription	GM12878-XiMat	blood
43	chr2:20708000-20713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:20708200-20708600	Weak transcription	Placenta	Placenta

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