Variant report

Variant	rs16872635
Chromosome Location	chr5:74903894-74903895
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	TEAD4	chr5:74903890-74904223	K562	blood:	n/a	n/a
2	NR2F2	chr5:74903884-74904266	K562	blood:	n/a	n/a

Variant related genes	Relation type
ANKDD1B	TF binding region
ENSG00000272040	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1018119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515215	0.87[ASN][1000 genomes]
rs16872589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872639	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872665	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16872674	0.89[ASN][1000 genomes]
rs16872720	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16872726	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16872766	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17672150	0.89[ASN][1000 genomes]
rs17672204	0.87[ASN][1000 genomes]
rs1909720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303648	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs3925086	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55705647	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805408	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56361267	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5744566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744572	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744594	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744658	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5744661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744681	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5744722	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57566899	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58789089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59367133	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60854109	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61001560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61080643	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61164763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61175242	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61678717	0.82[EUR][1000 genomes]
rs73763099	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73763101	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73763102	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73764903	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73764904	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73764905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73764909	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73764910	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73764914	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73764915	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73764920	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73764921	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73764922	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73764925	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73764928	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73764930	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73764931	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73764932	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs767677	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714554	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs963004	0.97[EUR][1000 genomes]
rs9791146	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	13 gene(s)	inside rSNPs	diseases
6	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
3	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:74864000-74907000	Weak transcription	Psoas Muscle	Psoas
6	chr5:74865800-74906800	Weak transcription	Colonic Mucosa	Colon
7	chr5:74867600-74907200	Weak transcription	Small Intestine	intestine
8	chr5:74873600-74907000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:74875200-74907000	Weak transcription	Right Ventricle	heart
10	chr5:74879000-74907000	Weak transcription	HepG2	liver
11	chr5:74889800-74906200	Weak transcription	Fetal Intestine Small	intestine
12	chr5:74889800-74906800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:74889800-74907200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:74890400-74907000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:74892800-74907000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:74893200-74906800	Weak transcription	Stomach Mucosa	stomach
17	chr5:74894400-74908200	Weak transcription	GM12878-XiMat	blood
18	chr5:74896600-74907000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:74896600-74907000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:74896600-74907000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:74896600-74907200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:74896800-74907000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:74897000-74906800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:74897200-74906800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:74897800-74907000	Weak transcription	Gastric	stomach
26	chr5:74898200-74904400	Weak transcription	Dnd41	blood
27	chr5:74898200-74905400	Weak transcription	A549	lung
28	chr5:74898200-74906600	Weak transcription	Liver	Liver
29	chr5:74898200-74906800	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:74898200-74906800	Weak transcription	Fetal Brain Female	brain
31	chr5:74898200-74906800	Weak transcription	Ovary	ovary
32	chr5:74898200-74906800	Weak transcription	Pancreas	Pancrea
33	chr5:74898200-74906800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:74898200-74907000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:74898200-74907000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:74898200-74907000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:74898200-74907000	Weak transcription	NHDF-Ad	bronchial
38	chr5:74898200-74907200	Weak transcription	Spleen	Spleen
39	chr5:74898400-74906400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:74898400-74906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:74898400-74906800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:74898400-74907000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:74898400-74907000	Weak transcription	Fetal Intestine Large	intestine
44	chr5:74898400-74907000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:74898400-74907000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr5:74898400-74907200	Weak transcription	Lung	lung
47	chr5:74898400-74907200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:74898400-74907200	Weak transcription	Thymus	Thymus
49	chr5:74898600-74907000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:74898600-74907000	Weak transcription	Brain Germinal Matrix	brain

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