Variant report

Variant	rs11112366
Chromosome Location	chr12:105486108-105486109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105485255..105487201-chr12:105499969..105501573,2	K562	blood:
2	chr12:105484191..105488176-chr12:105493160..105495554,3	MCF-7	breast:
3	chr12:105351971..105353693-chr12:105484339..105486678,2	MCF-7	breast:
4	chr12:105467422..105469473-chr12:105483302..105486142,2	K562	blood:

Variant related genes	Relation type
ENSG00000136052	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136051	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10459207	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10778370	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10861337	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861342	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10861346	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861353	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861354	0.84[EUR][1000 genomes]
rs10861355	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861356	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861357	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861358	0.86[EUR][1000 genomes]
rs10861360	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112359	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112368	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112371	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112373	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112374	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112378	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112380	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112383	0.87[ASN][1000 genomes]
rs11112386	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112390	0.86[EUR][1000 genomes]
rs11112393	0.84[EUR][1000 genomes]
rs11112394	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112396	0.84[EUR][1000 genomes]
rs11112397	0.84[EUR][1000 genomes]
rs11112398	0.86[EUR][1000 genomes]
rs11112403	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112413	0.83[EUR][1000 genomes]
rs12227605	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229846	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12315366	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12316054	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12320123	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12320722	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345095	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1444608	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1663563	0.86[ASN][1000 genomes]
rs2044307	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2888841	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34705618	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3794232	0.80[EUR][1000 genomes]
rs3829297	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61506525	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs703683	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7136344	0.84[EUR][1000 genomes]
rs7305712	0.83[EUR][1000 genomes]
rs73395802	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7960452	0.94[EUR][1000 genomes]
rs7966106	0.80[EUR][1000 genomes]
rs7968711	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9634185	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105478800-105486200	Weak transcription	Right Atrium	heart
2	chr12:105483200-105487000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:105484400-105486600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:105484800-105487000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:105485400-105486200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105485400-105486400	Enhancers	K562	blood
7	chr12:105485400-105486800	Enhancers	Brain Substantia Nigra	brain
8	chr12:105485400-105486800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:105485600-105486200	Active TSS	NHEK	skin
10	chr12:105485600-105486600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:105485800-105486200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:105485800-105486200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:105485800-105486200	Bivalent Enhancer	HepG2	liver
14	chr12:105485800-105486400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:105485800-105486400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:105485800-105486400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:105485800-105486400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:105485800-105486400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:105485800-105487000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:105485800-105487000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:105486000-105486200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:105486000-105486400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:105486000-105486400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:105486000-105486400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:105486000-105486400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:105486000-105486400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:105486000-105486400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr12:105486000-105486400	Bivalent/Poised TSS	Placenta	Placenta
29	chr12:105486000-105486400	Active TSS	HMEC	breast
30	chr12:105486000-105486600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:105486000-105486600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:105486000-105486600	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:105486000-105486600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
34	chr12:105486000-105486600	Active TSS	Pancreas	Pancrea
35	chr12:105486000-105486800	Active TSS	Rectal Mucosa Donor 31	rectum

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