Variant report

Variant	rs4788575
Chromosome Location	chr16:71931126-71931127
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr16:71930752-71931176	K562	blood:	n/a	n/a
2	SIN3A	chr16:71931039-71931128	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr16:71930911-71931157	K562	blood:	n/a	n/a
4	ZNF384	chr16:71930742-71931204	K562	blood:	n/a	n/a
5	ZNF384	chr16:71930754-71931133	GM12878	blood:	n/a	n/a
6	TAF1	chr16:71930834-71931156	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71841145..71844669-chr16:71927071..71931411,13	MCF-7	breast:
2	chr16:71878320..71880402-chr16:71929242..71933378,4	MCF-7	breast:
3	chr16:71929970..71932998-chr16:71952269..71954857,3	K562	blood:
4	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:
5	chr16:71928144..71931559-chr16:72041567..72044276,4	MCF-7	breast:
6	chr16:71929035..71931345-chr16:71958752..71961424,2	K562	blood:

No data

Variant related genes	Relation type
ZNF821	TF binding region
ENSG00000261337	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000102967	Chromatin interaction
ENSG00000224470	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10500567	0.85[JPT][hapmap]
rs11075910	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11644740	0.85[JPT][hapmap]
rs11648557	0.85[JPT][hapmap]
rs11865456	0.85[JPT][hapmap]
rs12149307	0.85[JPT][hapmap]
rs12149325	0.85[JPT][hapmap]
rs12444594	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12445564	0.85[JPT][hapmap]
rs12445641	0.85[JPT][hapmap]
rs12447045	0.92[YRI][hapmap]
rs12708918	0.85[EUR][1000 genomes]
rs12708919	0.96[CEU][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs12934512	0.85[JPT][hapmap]
rs17286411	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17357420	0.85[JPT][hapmap]
rs17358402	0.85[JPT][hapmap]
rs1834036	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2288030	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35619990	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3751820	0.85[JPT][hapmap]
rs4528577	0.85[JPT][hapmap]
rs4788450	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs4788561	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4788568	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788569	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788579	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs7188591	0.85[JPT][hapmap]
rs7195988	0.85[JPT][hapmap]
rs7197486	0.85[JPT][hapmap]
rs7198834	0.85[JPT][hapmap]
rs8044004	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8044335	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8050058	0.85[JPT][hapmap]
rs8052358	0.85[JPT][hapmap]
rs9932707	0.96[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9939911	0.85[JPT][hapmap]
rs9940234	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
2	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
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	17 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71927800-71931200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:71927800-71931200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr16:71927800-71931200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:71927800-71931200	Active TSS	Right Ventricle	heart
5	chr16:71927800-71931200	Active TSS	HSMM	muscle
6	chr16:71927800-71931400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr16:71927800-71931400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:71928000-71931200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr16:71928000-71931200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:71928000-71931200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr16:71928000-71932000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr16:71928200-71931200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:71928200-71931200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:71928200-71931400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:71928200-71931400	Active TSS	GM12878-XiMat	blood
16	chr16:71929400-71931200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr16:71929600-71931600	Active TSS	Right Atrium	heart
18	chr16:71929800-71931200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr16:71929800-71931200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:71930000-71931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:71930000-71931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:71930000-71931200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr16:71930000-71931600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr16:71930000-71931600	Active TSS	Fetal Brain Female	brain
25	chr16:71930400-71931200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr16:71930400-71931200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr16:71930400-71931200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr16:71930400-71931200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:71930400-71931200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:71930400-71931200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr16:71930400-71931200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:71930400-71931200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:71930400-71931200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr16:71930400-71931200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr16:71930400-71931200	Enhancers	Esophagus	oesophagus
36	chr16:71930400-71931200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr16:71930400-71931200	Flanking Active TSS	Dnd41	blood
38	chr16:71930400-71931200	Flanking Active TSS	HUVEC	blood vessel
39	chr16:71930400-71931200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr16:71930400-71931600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr16:71930400-71932200	Enhancers	Spleen	Spleen
42	chr16:71930400-71934800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr16:71930600-71931200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:71930600-71931200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:71930600-71931200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:71930600-71931200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:71930600-71931200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:71930600-71931200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr16:71930600-71931200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr16:71930600-71931200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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