Variant report

Variant	rs1035573
Chromosome Location	chr16:81367149-81367150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81355446..81358020-chr16:81366179..81367886,2	K562	blood:
2	chr16:81346603..81348772-chr16:81366929..81370865,3	K562	blood:
3	chr16:81362410..81365455-chr16:81367102..81371144,3	K562	blood:
4	chr16:81358702..81362075-chr16:81365943..81367712,3	K562	blood:

Variant related genes	Relation type
ENSG00000260495	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11647874	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11859133	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12448327	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12925347	0.86[EUR][1000 genomes]
rs12925975	0.93[EUR][1000 genomes]
rs12929595	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12929776	0.82[AMR][1000 genomes]
rs17188615	0.87[EUR][1000 genomes]
rs1862843	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1895539	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1946285	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946287	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1981884	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2059280	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2081264	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2216771	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2317127	0.93[EUR][1000 genomes]
rs2550738	0.85[EUR][1000 genomes]
rs2608554	0.86[EUR][1000 genomes]
rs2911441	0.86[EUR][1000 genomes]
rs310034	0.89[EUR][1000 genomes]
rs310035	0.89[EUR][1000 genomes]
rs4625712	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889299	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4889300	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889302	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889307	0.82[EUR][1000 genomes]
rs4889308	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6564871	0.88[EUR][1000 genomes]
rs7191409	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7202902	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs889747	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs918773	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918775	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9673346	0.88[EUR][1000 genomes]
rs9673795	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9674190	0.82[EUR][1000 genomes]
rs9889027	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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 miRNA target site	56 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
3	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
5	chr16:81350400-81367600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr16:81350400-81370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:81350600-81367600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:81351200-81369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:81351400-81368800	Weak transcription	Dnd41	blood
12	chr16:81351400-81371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:81352800-81367400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:81353200-81367800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:81353400-81373200	Weak transcription	HUVEC	blood vessel
16	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:81353800-81372600	Weak transcription	A549	lung
18	chr16:81354000-81371400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:81354400-81372800	Weak transcription	HSMM	muscle
21	chr16:81355600-81371600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:81357800-81375800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:81358600-81367400	Weak transcription	Right Ventricle	heart
24	chr16:81358800-81367400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:81358800-81369600	Weak transcription	K562	blood
26	chr16:81358800-81372200	Weak transcription	Right Atrium	heart
27	chr16:81358800-81372400	Weak transcription	Lung	lung
28	chr16:81359000-81369400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:81359000-81370000	Weak transcription	HepG2	liver
30	chr16:81359200-81369000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:81359200-81370400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:81359800-81370400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:81360400-81367600	Weak transcription	Primary T cells from cord blood	blood
34	chr16:81360600-81371200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:81360600-81373000	Weak transcription	Brain Angular Gyrus	brain
36	chr16:81360800-81372000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr16:81361400-81370200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:81363000-81372600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:81363600-81367200	Weak transcription	Fetal Lung	lung
40	chr16:81363600-81368200	Weak transcription	Gastric	stomach
41	chr16:81363800-81369600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:81363800-81379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:81364000-81367800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr16:81364000-81369400	Weak transcription	NHEK	skin
45	chr16:81364000-81374600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:81364400-81369400	Weak transcription	GM12878-XiMat	blood
47	chr16:81364800-81367400	Weak transcription	Left Ventricle	heart
48	chr16:81365800-81368400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr16:81366200-81367800	Weak transcription	Fetal Intestine Small	intestine
50	chr16:81366200-81369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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