Variant report

Variant	rs73130449
Chromosome Location	chr4:16206633-16206634
allele	A/T
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	CTCF	chr4:16206596-16207770	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:16205687..16210095-chr4:16211514..16215415,4	K562	blood:
2	chr4:16206563..16211517-chr4:16224602..16229225,6	K562	blood:
3	chr4:16202184..16204166-chr4:16205762..16207815,2	K562	blood:
4	chr4:16204628..16208605-chr4:16216498..16220405,4	K562	blood:

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000263327	Chromatin interaction
ENSG00000169762	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10516298	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10939653	0.84[ASN][1000 genomes]
rs11724076	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11724423	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11724467	0.85[ASN][1000 genomes]
rs11731602	0.83[ASN][1000 genomes]
rs11736424	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11736827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12504884	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506478	0.93[ASN][1000 genomes]
rs12513244	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643544	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645055	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12651110	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373112	0.84[ASN][1000 genomes]
rs1662652	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16893099	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs16893119	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16893138	0.83[ASN][1000 genomes]
rs16893143	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16893144	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16893147	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893158	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs317874	0.82[ASN][1000 genomes]
rs35851218	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56023844	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218994	0.83[ASN][1000 genomes]
rs57089965	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58047733	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60460559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60768295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73128422	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73128457	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130433	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130439	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73130445	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130453	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73130456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7657191	0.81[ASN][1000 genomes]
rs894639	0.88[ASN][1000 genomes]

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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16168000-16208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:16170800-16208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:16171400-16207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
6	chr4:16191400-16207000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:16193000-16207600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:16193000-16208200	Weak transcription	Esophagus	oesophagus
9	chr4:16193000-16216000	Weak transcription	Spleen	Spleen
10	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
11	chr4:16193200-16206800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:16193200-16207000	Weak transcription	Pancreas	Pancrea
13	chr4:16193200-16208000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:16193200-16208000	Weak transcription	Lung	lung
15	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
16	chr4:16193400-16211200	Weak transcription	Placenta	Placenta
17	chr4:16193600-16208600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:16195400-16207000	Weak transcription	Gastric	stomach
19	chr4:16196200-16207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:16198600-16207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:16198600-16211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:16198600-16216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:16198800-16211400	Weak transcription	Aorta	Aorta
26	chr4:16198800-16218800	Weak transcription	HSMM	muscle
27	chr4:16198800-16225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:16198800-16226000	Weak transcription	NHEK	skin
29	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:16199800-16207000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:16199800-16207000	Weak transcription	Fetal Kidney	kidney
32	chr4:16199800-16208000	Weak transcription	Small Intestine	intestine
33	chr4:16199800-16209800	Weak transcription	NHLF	lung
34	chr4:16199800-16215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:16200000-16208600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:16200000-16214200	Weak transcription	Fetal Heart	heart
37	chr4:16200200-16209000	Weak transcription	NHDF-Ad	bronchial
38	chr4:16200400-16206800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:16200600-16207600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:16200800-16213600	Weak transcription	HUVEC	blood vessel
41	chr4:16200800-16214800	Weak transcription	Stomach Mucosa	stomach
42	chr4:16200800-16218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:16201400-16207000	Strong transcription	Fetal Thymus	thymus
44	chr4:16201600-16207200	Strong transcription	Primary T cells from cord blood	blood
45	chr4:16202200-16208000	Weak transcription	Fetal Stomach	stomach
46	chr4:16202400-16206800	Weak transcription	Adipose Nuclei	Adipose
47	chr4:16202400-16207200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:16202600-16208200	Strong transcription	Dnd41	blood
49	chr4:16202800-16220800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:16203600-16208000	Weak transcription	Duodenum Mucosa	Duodenum

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