Variant report

Variant	rs10929654
Chromosome Location	chr2:10427767-10427768
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10409349..10412124-chr2:10426501..10428444,2	MCF-7	breast:
2	chr2:10393383..10395595-chr2:10425523..10427994,2	MCF-7	breast:
3	chr2:10425999..10428311-chr2:10434515..10436938,2	MCF-7	breast:
4	chr2:10424582..10428007-chr2:10430284..10432501,3	K562	blood:
5	chr2:10427703..10429703-chr2:10465002..10467932,2	MCF-7	breast:
6	chr2:10426724..10428299-chr2:10440170..10442093,2	K562	blood:
7	chr2:10425395..10428329-chr2:10430052..10432008,2	MCF-7	breast:
8	chr2:10404445..10406499-chr2:10426749..10428741,2	K562	blood:
9	chr2:10421994..10428607-chr2:10439137..10445249,17	MCF-7	breast:
10	chr2:10426763..10428609-chr2:10553195..10555162,2	MCF-7	breast:
11	chr2:10417609..10422533-chr2:10427569..10430886,4	K562	blood:
12	chr2:10416195..10418762-chr2:10425700..10428798,3	MCF-7	breast:
13	chr2:10421389..10428688-chr2:10440606..10446723,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206898	Chromatin interaction
ENSG00000115756	Chromatin interaction
ENSG00000264030	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11679698	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020029	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55890118	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59980234	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62128553	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7601952	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10421800-10429400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:10422200-10427800	Enhancers	HMEC	breast
3	chr2:10422800-10428000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:10423400-10429800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:10424400-10429600	Enhancers	Liver	Liver
6	chr2:10425000-10427800	Enhancers	Stomach Mucosa	stomach
7	chr2:10426200-10428000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:10426200-10428600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:10426200-10429600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:10426200-10438000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:10426400-10429600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:10426800-10428600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:10426800-10429800	Weak transcription	NHLF	lung
14	chr2:10426800-10430000	Weak transcription	HUVEC	blood vessel
15	chr2:10426800-10437600	Weak transcription	Spleen	Spleen
16	chr2:10427000-10428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:10427000-10428800	Weak transcription	Osteobl	bone
18	chr2:10427000-10429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:10427000-10429600	Weak transcription	NH-A	brain
20	chr2:10427000-10430000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10427000-10430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:10427000-10430000	Weak transcription	NHDF-Ad	bronchial
23	chr2:10427200-10428000	Enhancers	A549	lung
24	chr2:10427200-10428800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:10427200-10428800	Weak transcription	Adipose Nuclei	Adipose
26	chr2:10427200-10430000	Weak transcription	Esophagus	oesophagus
27	chr2:10427400-10427800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:10427400-10429200	Weak transcription	HSMM	muscle
29	chr2:10427400-10429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:10427400-10429800	Enhancers	NHEK	skin
31	chr2:10427400-10430400	Weak transcription	HSMMtube	muscle
32	chr2:10427600-10428800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:10427600-10429400	Weak transcription	Hela-S3	cervix

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