Variant report

Variant	rs2288642
Chromosome Location	chr2:10079733-10079734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9982989..9985362-chr2:10078538..10080122,2	MCF-7	breast:
2	chr2:10078268..10079788-chr2:10084241..10085937,2	K562	blood:

Variant related genes	Relation type
ENSG00000134317	Chromatin interaction
ENSG00000115750	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10929624	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052946	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721644	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750872	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10030600-10080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:10037200-10080400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:10038600-10079800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:10038600-10081400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:10047200-10080000	Weak transcription	Colonic Mucosa	Colon
6	chr2:10049400-10081000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:10049600-10081200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:10055000-10080800	Weak transcription	Pancreas	Pancrea
9	chr2:10055000-10080800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:10055000-10081800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:10055200-10080800	Weak transcription	HMEC	breast
12	chr2:10059000-10080600	Weak transcription	HSMMtube	muscle
13	chr2:10059400-10081200	Weak transcription	GM12878-XiMat	blood
14	chr2:10060600-10080200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:10061000-10080800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:10061000-10080800	Weak transcription	NH-A	brain
17	chr2:10061000-10080800	Weak transcription	NHEK	skin
18	chr2:10062600-10080200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:10063000-10080800	Weak transcription	NHLF	lung
20	chr2:10064200-10080200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:10065000-10080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:10069600-10079800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:10070800-10080800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:10073400-10081800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:10073400-10084400	Weak transcription	Lung	lung
26	chr2:10073600-10088800	Weak transcription	Spleen	Spleen
27	chr2:10073800-10080000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:10073800-10080800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:10073800-10080800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:10073800-10081000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:10073800-10082000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:10074000-10079800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:10074000-10081800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:10074200-10081800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:10074400-10080200	Weak transcription	HSMM	muscle
36	chr2:10074400-10080800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:10074800-10079800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:10074800-10080000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:10075200-10080200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:10075400-10079800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:10075600-10080000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:10075600-10080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:10075600-10080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:10075600-10080800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:10075600-10080800	Weak transcription	NHDF-Ad	bronchial
46	chr2:10075600-10082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:10075800-10080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:10075800-10080200	Weak transcription	Primary T cells from cord blood	blood
49	chr2:10075800-10080600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:10075800-10081200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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