Variant report

Variant	rs30433
Chromosome Location	chr16:72145404-72145405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72144522..72146740-chr16:72151105..72152934,2	K562	blood:
2	chr16:71879780..71881511-chr16:72144276..72147011,2	MCF-7	breast:
3	chr16:72138442..72141132-chr16:72144347..72146583,2	K562	blood:
4	chr16:72143268..72145406-chr16:72145794..72147509,2	MCF-7	breast:
5	chr16:72137539..72141132-chr16:72143530..72146583,3	K562	blood:
6	chr16:72144493..72146152-chr16:72155235..72157719,2	K562	blood:
7	chr16:72139817..72142813-chr16:72144026..72146841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182149	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000140829	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492815	0.88[GIH][hapmap]
rs12446654	0.83[AMR][1000 genomes]
rs150617	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152826	0.80[EUR][1000 genomes]
rs152827	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs152828	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs152838	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs217176	1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs2550043	0.83[AMR][1000 genomes]
rs34979323	0.86[ASN][1000 genomes]
rs7185601	0.93[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs8046916	0.86[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs9929256	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72129400-72147800	Strong transcription	Primary T cells from cord blood	blood
2	chr16:72129800-72145600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:72129800-72146000	Strong transcription	HSMMtube	muscle
4	chr16:72129800-72146600	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr16:72129800-72147000	Strong transcription	Ovary	ovary
6	chr16:72129800-72147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr16:72129800-72147600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:72129800-72147800	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:72129800-72148200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:72129800-72149000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:72130000-72145600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:72130000-72146400	Strong transcription	Colon Smooth Muscle	Colon
13	chr16:72130000-72146600	Strong transcription	HUVEC	blood vessel
14	chr16:72130000-72146800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:72130000-72146800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:72130000-72147000	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr16:72130000-72147000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:72130000-72147000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:72130000-72147000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:72130000-72147000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:72130000-72147000	Strong transcription	Esophagus	oesophagus
22	chr16:72130000-72147000	Strong transcription	NHEK	skin
23	chr16:72130000-72147200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:72130000-72147200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:72130000-72147200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:72130000-72147200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:72130000-72147200	Strong transcription	Aorta	Aorta
28	chr16:72130000-72147200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr16:72130000-72147200	Strong transcription	Brain Substantia Nigra	brain
30	chr16:72130000-72147200	Strong transcription	Fetal Lung	lung
31	chr16:72130000-72147200	Strong transcription	Left Ventricle	heart
32	chr16:72130000-72147400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr16:72130000-72147400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:72130000-72147400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:72130000-72147400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:72130000-72147400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:72130000-72147400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:72130000-72147400	Strong transcription	Adipose Nuclei	Adipose
39	chr16:72130000-72147400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr16:72130000-72147400	Strong transcription	Fetal Brain Female	brain
41	chr16:72130000-72147400	Strong transcription	Fetal Thymus	thymus
42	chr16:72130000-72147400	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr16:72130000-72147400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:72130000-72147600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:72130000-72147600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr16:72130000-72147600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr16:72130000-72147600	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:72130000-72147600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr16:72130000-72147600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:72130000-72147600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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