Variant report

Variant	rs885815
Chromosome Location	chr2:10591628-10591629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:10591582-10591904	K562	blood:	n/a	n/a
2	CEBPB	chr2:10591583-10591829	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10394552..10396984-chr2:10589964..10592378,2	K562	blood:
2	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
3	chr2:10260223..10262864-chr2:10590912..10592995,2	K562	blood:
4	chr2:10493099..10495765-chr2:10590269..10592388,2	MCF-7	breast:

Variant related genes	Relation type
SNORA80B	TF binding region
ODC1	TF binding region
ENSG00000217258	TF binding region
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10929670	0.96[EUR][1000 genomes]
rs12692409	0.81[EUR][1000 genomes]
rs6432097	0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs7567010	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv873648	chr2:10584639-10599493	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv1840643	chr2:10585364-10607465	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv873649	chr2:10585458-10591628	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv873650	chr2:10585458-10597858	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv873651	chr2:10585575-10597858	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	esv1835846	chr2:10587869-10591628	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	esv1835907	chr2:10587869-10591628	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	esv1838652	chr2:10587869-10591628	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	esv1844482	chr2:10587869-10591628	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
15	esv1844642	chr2:10587869-10591628	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
16	esv1839493	chr2:10587869-10595578	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv1841500	chr2:10587869-10595578	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
18	esv1842177	chr2:10587869-10595578	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
19	esv1835263	chr2:10587869-10611211	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs885815	C2orf46	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10589200-10592000	Weak transcription	Gastric	stomach
2	chr2:10589400-10592400	Weak transcription	Esophagus	oesophagus
3	chr2:10589600-10592000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:10589600-10592000	Weak transcription	Small Intestine	intestine
5	chr2:10589600-10592000	Weak transcription	NHDF-Ad	bronchial
6	chr2:10589600-10592200	Weak transcription	HSMM	muscle
7	chr2:10589600-10592400	Weak transcription	Fetal Heart	heart
8	chr2:10589600-10593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10589600-10594200	Weak transcription	Psoas Muscle	Psoas
10	chr2:10589600-10594600	Weak transcription	Left Ventricle	heart
11	chr2:10589600-10594600	Weak transcription	Right Atrium	heart
12	chr2:10589600-10597800	Weak transcription	HSMMtube	muscle
13	chr2:10589800-10593200	Weak transcription	Thymus	Thymus
14	chr2:10590000-10592200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:10590000-10592200	Weak transcription	Dnd41	blood
16	chr2:10590000-10592600	Weak transcription	Fetal Thymus	thymus
17	chr2:10590000-10594000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:10590000-10594000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:10590000-10594400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:10590000-10594400	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:10590000-10594600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:10590000-10594600	Enhancers	Stomach Mucosa	stomach
23	chr2:10590000-10595200	Enhancers	HMEC	breast
24	chr2:10590200-10592000	Weak transcription	NH-A	brain
25	chr2:10590200-10592000	Weak transcription	Osteobl	bone
26	chr2:10590200-10592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:10590200-10592600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:10590200-10594200	Weak transcription	Fetal Brain Male	brain
29	chr2:10590400-10591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:10590400-10592200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:10590400-10592200	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:10590400-10592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:10590400-10592400	Enhancers	K562	blood
34	chr2:10590400-10593400	Weak transcription	Fetal Brain Female	brain
35	chr2:10590400-10593600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:10590400-10594000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:10590400-10594000	Weak transcription	Spleen	Spleen
38	chr2:10590400-10600800	Weak transcription	Fetal Lung	lung
39	chr2:10590600-10592200	Weak transcription	Colonic Mucosa	Colon
40	chr2:10590600-10592200	Weak transcription	Lung	lung
41	chr2:10590600-10592200	Weak transcription	HUVEC	blood vessel
42	chr2:10590600-10592400	Weak transcription	Right Ventricle	heart
43	chr2:10590600-10594000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:10590600-10594600	Weak transcription	Adipose Nuclei	Adipose
45	chr2:10590600-10594600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:10590600-10595200	Enhancers	Liver	Liver
47	chr2:10590800-10592000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:10590800-10592000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:10590800-10592000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:10590800-10592000	Weak transcription	Rectal Mucosa Donor 31	rectum

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