Variant report

Variant	rs17041883
Chromosome Location	chr2:111909742-111909743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111877254..111880107-chr2:111907891..111910669,3	MCF-7	breast:
2	chr2:111898288..111899933-chr2:111909236..111912123,2	MCF-7	breast:
3	chr2:111908889..111912650-chr2:111913832..111916380,3	MCF-7	breast:
4	chr2:111877614..111879979-chr2:111908641..111910438,3	K562	blood:
5	chr2:111877202..111881841-chr2:111904437..111911865,11	K562	blood:

Variant related genes	Relation type
ENSG00000153094	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1107480	0.82[YRI][hapmap]
rs13388646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17041869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17041888	1.00[YRI][hapmap]
rs1877330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2165108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3761704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4848397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58459876	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs726430	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs72837815	0.83[EUR][1000 genomes]
rs72837819	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72837831	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:111887400-111912000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:111890600-111914400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:111893600-111913400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:111893600-111916800	Weak transcription	HSMM	muscle
9	chr2:111893600-111918600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:111894200-111917200	Weak transcription	NH-A	brain
11	chr2:111895000-111912800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:111897600-111912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:111897600-111913000	Weak transcription	Stomach Mucosa	stomach
14	chr2:111897800-111910000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:111897800-111910600	Strong transcription	HepG2	liver
16	chr2:111897800-111912400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:111897800-111912600	Weak transcription	Brain Anterior Caudate	brain
18	chr2:111897800-111916600	Weak transcription	Psoas Muscle	Psoas
19	chr2:111898000-111911400	Strong transcription	Liver	Liver
20	chr2:111898200-111912600	Weak transcription	NHEK	skin
21	chr2:111898800-111912400	Weak transcription	HMEC	breast
22	chr2:111898800-111912800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:111898800-111920600	Weak transcription	Fetal Kidney	kidney
24	chr2:111902800-111912400	Weak transcription	Hela-S3	cervix
25	chr2:111902800-111915200	Weak transcription	Fetal Brain Female	brain
26	chr2:111904400-111920800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:111904800-111912800	Strong transcription	Fetal Thymus	thymus
28	chr2:111905600-111915200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:111906000-111915800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr2:111906400-111909800	Weak transcription	Left Ventricle	heart
31	chr2:111906400-111912200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:111906400-111914000	Strong transcription	Dnd41	blood
33	chr2:111906400-111919600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:111906600-111914200	Weak transcription	GM12878-XiMat	blood
35	chr2:111906600-111927000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:111906800-111911400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:111906800-111918200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:111907000-111912800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:111907200-111911800	Strong transcription	Primary B cells from cord blood	blood
40	chr2:111907200-111913200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:111907400-111917000	Strong transcription	Placenta	Placenta
42	chr2:111907400-111920000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:111907400-111920200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:111907600-111909800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:111907600-111909800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:111907600-111910400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:111907600-111910400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:111907600-111910600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:111907600-111910600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:111907600-111911600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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