Variant report

Variant	rs12000106
Chromosome Location	chr9:71411043-71411044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71394580..71396149-chr9:71409083..71412062,2	K562	blood:
2	chr9:71408861..71411177-chr9:71411346..71415020,3	K562	blood:

Variant related genes	Relation type
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11143619	0.91[YRI][hapmap]
rs12006032	0.88[YRI][hapmap]
rs12342394	0.92[YRI][hapmap]
rs12349968	0.88[YRI][hapmap]
rs2151414	0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71397200-71417400	Weak transcription	Lung	lung
2	chr9:71399000-71420200	Weak transcription	Fetal Stomach	stomach
3	chr9:71399800-71413200	Weak transcription	Dnd41	blood
4	chr9:71402600-71413400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr9:71402600-71413600	Weak transcription	Primary T cells from cord blood	blood
6	chr9:71403200-71419800	Weak transcription	Pancreas	Pancrea
7	chr9:71404600-71431400	Weak transcription	HepG2	liver
8	chr9:71404800-71413200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:71409000-71413400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:71409000-71417400	Weak transcription	Right Atrium	heart
11	chr9:71409200-71413200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:71409200-71413400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:71409200-71421000	Weak transcription	Placenta	Placenta
14	chr9:71409600-71412000	Weak transcription	Primary B cells from cord blood	blood
15	chr9:71409600-71412000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr9:71409800-71413400	Weak transcription	GM12878-XiMat	blood
17	chr9:71410000-71411200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr9:71410000-71417000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:71410000-71417400	Weak transcription	Left Ventricle	heart
20	chr9:71410000-71417600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:71410200-71411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:71410200-71413400	Weak transcription	K562	blood
23	chr9:71410200-71415000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:71410200-71419200	Weak transcription	Gastric	stomach
25	chr9:71410200-71419600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:71410200-71419800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:71410200-71428600	Weak transcription	Aorta	Aorta
28	chr9:71410400-71417200	Weak transcription	Fetal Intestine Large	intestine
29	chr9:71410400-71417200	Weak transcription	Fetal Intestine Small	intestine
30	chr9:71410400-71420200	Weak transcription	Stomach Mucosa	stomach
31	chr9:71410800-71413400	Weak transcription	Fetal Heart	heart

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