Variant report

Variant	rs56071735
Chromosome Location	chr16:72406879-72406880
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr16:72404344-72406998	HEK293	kidney:	n/a	chr16:72405351-72405360
2	KAP1	chr16:72406325-72407126	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
RNU6-385P	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56141632	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56241817	1.00[AMR][1000 genomes]
rs72791143	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72791153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72791159	0.84[EUR][1000 genomes]
rs72791162	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72793222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72793224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72793229	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72793243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72793245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72793249	1.00[AMR][1000 genomes]
rs72793251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][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	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	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
3	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
4	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1057127	chr16:72375524-72509686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv542949	chr16:72375524-72509686	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
2	chr16:72397200-72413800	Weak transcription	HepG2	liver
3	chr16:72400600-72422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72400800-72420000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr16:72401400-72408200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:72402600-72407200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr16:72403000-72407200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr16:72403000-72407600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:72403000-72407800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:72403200-72407600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:72403200-72408200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:72404000-72407400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:72404000-72409400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:72404400-72408000	Enhancers	HUVEC	blood vessel
15	chr16:72404600-72407800	Enhancers	Fetal Kidney	kidney
16	chr16:72404800-72407200	Enhancers	Stomach Mucosa	stomach
17	chr16:72405000-72407000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:72405000-72407400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:72405200-72407200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr16:72405200-72407600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr16:72405400-72407000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr16:72405600-72420000	Weak transcription	Primary B cells from cord blood	blood
23	chr16:72406000-72407000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:72406200-72407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr16:72406400-72407600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr16:72406800-72412400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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