Variant report

Variant	rs12575902
Chromosome Location	chr11:18325268-18325269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18319375..18321577-chr11:18324234..18326224,2	MCF-7	breast:
2	chr11:18324297..18325987-chr11:18341504..18344479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110756	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1122938	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575499	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12577296	0.93[ASN][1000 genomes]
rs4150548	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150599	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4150675	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7113749	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
2	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18298600-18326200	Strong transcription	Liver	Liver
5	chr11:18298800-18327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:18298800-18331600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:18299200-18332400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:18299600-18326200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:18299600-18334200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:18300000-18328600	Weak transcription	Stomach Mucosa	stomach
11	chr11:18300000-18334400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:18300200-18333600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:18300200-18334000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:18300200-18334800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:18300200-18336000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:18300600-18331600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:18300600-18332600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:18300600-18333200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:18300600-18334000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:18300800-18328400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:18300800-18330200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:18300800-18333000	Strong transcription	Dnd41	blood
23	chr11:18301000-18328000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:18301000-18334400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:18302200-18333000	Strong transcription	Adipose Nuclei	Adipose
26	chr11:18303000-18327000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:18303000-18334800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:18303200-18325600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:18303200-18334800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:18303400-18335000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr11:18304400-18332000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr11:18304600-18332000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:18305000-18331600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:18305200-18332000	Strong transcription	Primary B cells from cord blood	blood
35	chr11:18305600-18335000	Strong transcription	Primary T cells from cord blood	blood
36	chr11:18307400-18332400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:18308000-18333000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:18309000-18331600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:18310800-18334000	Weak transcription	Esophagus	oesophagus
40	chr11:18311800-18343000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:18312800-18334400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:18313000-18333000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:18314800-18330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:18315200-18332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:18315600-18327200	Strong transcription	Hela-S3	cervix
46	chr11:18316200-18333800	Weak transcription	Fetal Heart	heart
47	chr11:18316800-18326000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:18316800-18332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:18317000-18330000	Weak transcription	Fetal Brain Male	brain
50	chr11:18317200-18330600	Weak transcription	Lung	lung

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