Variant report

Variant	rs17512821
Chromosome Location	chr8:103342695-103342696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103335858..103340204-chr8:103341217..103345311,4	MCF-7	breast:
2	chr8:103342144..103347475-chr8:103421612..103426847,6	MCF-7	breast:
3	chr8:103342633..103344961-chr8:103423576..103425389,2	MCF-7	breast:
4	chr8:103314029..103316192-chr8:103341208..103343190,2	MCF-7	breast:
5	chr8:103341661..103343308-chr8:103345011..103347065,2	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1037698	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505023	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505026	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575866	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11783533	1.00[ASN][1000 genomes]
rs16869246	1.00[ASN][1000 genomes]
rs17185155	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17185245	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17432015	0.82[CEU][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17433890	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509673	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17512347	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824194	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28927372	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928568	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928570	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928575	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928577	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928583	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928584	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928588	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928589	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928594	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928595	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928599	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928601	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928602	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28928606	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28999688	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28999709	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs29000269	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs29000275	1.00[ASN][1000 genomes]
rs29000279	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs29000280	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs29000281	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs29000284	1.00[ASN][1000 genomes]
rs3204695	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34739767	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35066978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4102401	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56273032	1.00[ASN][1000 genomes]
rs58160045	1.00[ASN][1000 genomes]
rs73285249	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73285260	1.00[ASN][1000 genomes]
rs7836803	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
2	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
4	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
5	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:103326000-103354000	Weak transcription	Lung	lung
7	chr8:103330000-103346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103335000-103345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103335200-103345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:103335400-103342800	Strong transcription	Liver	Liver
12	chr8:103335400-103343200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:103335400-103343200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:103335400-103343200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:103335400-103343400	Strong transcription	HSMM	muscle
16	chr8:103335400-103343600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:103335400-103343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:103335400-103343800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:103335400-103343800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:103335400-103343800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:103335400-103344400	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:103335400-103344600	Strong transcription	Fetal Intestine Large	intestine
23	chr8:103335400-103344800	Strong transcription	Placenta	Placenta
24	chr8:103335400-103345000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:103335400-103345000	Strong transcription	Fetal Muscle Leg	muscle
26	chr8:103335400-103345200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:103335400-103345200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:103335400-103345200	Strong transcription	Adipose Nuclei	Adipose
29	chr8:103335400-103345200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr8:103335400-103345400	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr8:103335400-103345400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:103335400-103346400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr8:103335400-103346600	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:103335400-103346600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:103335400-103347000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:103335400-103351200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr8:103335400-103355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:103335400-103361200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
45	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:103335600-103344000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:103335800-103343800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:103335800-103355800	Strong transcription	GM12878-XiMat	blood
49	chr8:103335800-103370200	Strong transcription	Dnd41	blood
50	chr8:103336000-103352200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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