Variant report

Variant	rs12443828
Chromosome Location	chr16:81484200-81484201
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81480171..81484417-chr16:81492553..81495426,4	MCF-7	breast:
2	chr16:81481928..81485099-chr16:81576354..81580756,4	K562	blood:
3	chr16:81434998..81437971-chr16:81482154..81484687,2	K562	blood:
4	chr16:81482289..81484303-chr16:81490604..81493407,2	MCF-7	breast:
5	chr16:81434018..81436498-chr16:81482154..81484633,2	K562	blood:
6	chr16:81437645..81439695-chr16:81483087..81485039,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17197603	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs2925998	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2927300	0.84[ASN][1000 genomes]
rs2927335	0.89[JPT][hapmap]
rs2927336	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2927337	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs62043928	0.84[ASN][1000 genomes]
rs8044403	1.00[JPT][hapmap]
rs9923364	0.91[CHB][hapmap]

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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81480600-81486400	Enhancers	Small Intestine	intestine
2	chr16:81480600-81487200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:81480600-81487600	Transcr. at gene 5' and 3'	A549	lung
4	chr16:81480800-81484200	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr16:81480800-81485600	Weak transcription	Right Ventricle	heart
6	chr16:81480800-81487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr16:81481200-81484200	Enhancers	Fetal Thymus	thymus
8	chr16:81481200-81485400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr16:81481200-81487400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr16:81481400-81485200	Enhancers	Primary T cells from cord blood	blood
11	chr16:81481400-81491200	Weak transcription	NHLF	lung
12	chr16:81481400-81496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:81481600-81485200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:81481600-81486400	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:81481600-81486800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:81481800-81485200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr16:81481800-81485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:81481800-81487400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:81482000-81484400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
21	chr16:81482200-81485200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:81482200-81485400	Weak transcription	Ovary	ovary
23	chr16:81482200-81485400	Weak transcription	Hela-S3	cervix
24	chr16:81482200-81487600	Enhancers	Stomach Mucosa	stomach
25	chr16:81482400-81484400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:81482400-81485200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:81482400-81485200	Weak transcription	Left Ventricle	heart
28	chr16:81482400-81487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:81482600-81484800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:81482600-81485000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:81482600-81485200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:81482600-81485200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:81482600-81485200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:81482600-81485200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:81482600-81485200	Weak transcription	Brain Angular Gyrus	brain
36	chr16:81482600-81485200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:81482600-81485200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:81482600-81485200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr16:81482600-81485200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:81482600-81485400	Enhancers	Esophagus	oesophagus
41	chr16:81482600-81485400	Weak transcription	NH-A	brain
42	chr16:81482600-81486000	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:81482600-81487200	Enhancers	Colonic Mucosa	Colon
44	chr16:81482600-81490800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr16:81482800-81484600	Weak transcription	Adipose Nuclei	Adipose
46	chr16:81482800-81485000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:81482800-81485200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr16:81482800-81485200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:81482800-81485200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:81482800-81485200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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