Variant report

Variant	rs10000545
Chromosome Location	chr4:110357878-110357879
allele	C/G
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	TCF7L2	chr4:110357567-110358124	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:109542488..109544674-chr4:110355892..110357950,2	K562	blood:
2	chr4:110351870..110353542-chr4:110355047..110357946,2	MCF-7	breast:
3	chr4:110356991..110360455-chr4:110735478..110738765,3	K562	blood:

Variant related genes	Relation type
SEC24B-AS1	TF binding region
ENSG00000109534	Chromatin interaction
ENSG00000109475	Chromatin interaction
ENSG00000272795	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10002595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005355	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10016533	0.93[CEU][hapmap]
rs10155127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10516558	0.93[CEU][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11098035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11929713	0.83[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11930655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11933971	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934486	0.90[ASN][1000 genomes]
rs11935440	0.94[ASN][1000 genomes]
rs11935629	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11938593	0.94[ASN][1000 genomes]
rs11941344	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942140	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11942291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11942858	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942928	0.94[ASN][1000 genomes]
rs11943384	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11943430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11944375	0.94[ASN][1000 genomes]
rs11944427	0.94[ASN][1000 genomes]
rs11944659	0.90[ASN][1000 genomes]
rs12639832	0.90[ASN][1000 genomes]
rs12640049	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12640161	0.98[ASN][1000 genomes]
rs12642304	0.92[ASN][1000 genomes]
rs12643055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643844	0.92[ASN][1000 genomes]
rs12644055	0.82[CHB][hapmap];0.94[ASN][1000 genomes]
rs12647695	0.94[ASN][1000 genomes]
rs12648138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12648965	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12650873	0.94[ASN][1000 genomes]
rs13103034	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110999	0.86[CEU][hapmap]
rs13122093	0.86[CEU][hapmap]
rs13123618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125368	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128124	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128221	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs13134239	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13140373	0.86[CEU][hapmap]
rs13141701	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13142698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13143825	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13145066	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1509314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1509315	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040410	0.94[ASN][1000 genomes]
rs17040436	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040439	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040461	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040488	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040510	0.80[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17585970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17619262	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28521972	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28681408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34153531	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34224638	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34274964	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34377662	0.85[ASN][1000 genomes]
rs34441811	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34482781	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34505473	0.90[EUR][1000 genomes]
rs34636377	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34836476	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110951	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35359830	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35473144	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35594044	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35762958	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35791246	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940980	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36009064	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36115572	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3775962	0.92[ASN][1000 genomes]
rs60957336	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61004219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61242473	0.90[ASN][1000 genomes]
rs61439452	0.92[ASN][1000 genomes]
rs61553525	0.94[ASN][1000 genomes]
rs6533428	0.84[ASN][1000 genomes]
rs6533429	0.94[ASN][1000 genomes]
rs66642182	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66667140	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67473696	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68041341	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6812469	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6815455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6817954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6818911	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6823032	0.92[ASN][1000 genomes]
rs6827006	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6833753	0.90[ASN][1000 genomes]
rs6835683	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6837199	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6841198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6845371	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6848452	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6851517	0.94[ASN][1000 genomes]
rs6852037	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6856291	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6856446	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71603033	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72896619	0.98[ASN][1000 genomes]
rs72896622	0.98[ASN][1000 genomes]
rs72896625	0.98[ASN][1000 genomes]
rs72896629	0.98[ASN][1000 genomes]
rs72896632	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73838809	0.92[ASN][1000 genomes]
rs7436583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7436745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7440371	0.94[ASN][1000 genomes]
rs7440570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7679836	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7680296	0.91[EUR][1000 genomes]
rs7687245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9985632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9985964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9994676	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9994985	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9999570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110356000-110358400	Enhancers	Stomach Mucosa	stomach
2	chr4:110356200-110358000	Enhancers	Placenta	Placenta
3	chr4:110356200-110358400	Enhancers	Esophagus	oesophagus
4	chr4:110356200-110358400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:110356200-110360000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:110356400-110358000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:110356400-110358000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:110356400-110358000	Enhancers	Fetal Intestine Large	intestine
9	chr4:110356400-110358000	Enhancers	Fetal Intestine Small	intestine
10	chr4:110356400-110358200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:110356400-110358400	Enhancers	Brain Anterior Caudate	brain
12	chr4:110356400-110360600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:110356400-110361400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:110356400-110366200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr4:110356600-110358000	Enhancers	Fetal Muscle Leg	muscle
16	chr4:110356600-110358600	Enhancers	K562	blood
17	chr4:110356600-110360600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:110356600-110360800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:110356600-110364400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr4:110356800-110358000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:110356800-110358000	Flanking Active TSS	Liver	Liver
22	chr4:110356800-110358000	Enhancers	Brain Hippocampus Middle	brain
23	chr4:110356800-110358000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr4:110356800-110358000	Enhancers	Colonic Mucosa	Colon
25	chr4:110356800-110358000	Enhancers	Fetal Heart	heart
26	chr4:110356800-110358400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:110356800-110358400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:110356800-110358600	Enhancers	Small Intestine	intestine
29	chr4:110356800-110358800	Enhancers	Spleen	Spleen
30	chr4:110356800-110359000	Enhancers	Pancreas	Pancrea
31	chr4:110356800-110366000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:110357000-110358000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:110357000-110358000	Enhancers	Fetal Brain Male	brain
34	chr4:110357000-110358000	Enhancers	Ovary	ovary
35	chr4:110357000-110358000	Enhancers	Right Atrium	heart
36	chr4:110357000-110358000	Enhancers	Right Ventricle	heart
37	chr4:110357000-110359000	Enhancers	Lung	lung
38	chr4:110357000-110360600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:110357000-110360800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr4:110357000-110361600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:110357000-110362200	Weak transcription	Aorta	Aorta
42	chr4:110357200-110358000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:110357200-110358000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:110357200-110358000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:110357200-110358000	Enhancers	Fetal Brain Female	brain
46	chr4:110357200-110358000	Enhancers	Fetal Lung	lung
47	chr4:110357200-110358000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:110357200-110358000	Enhancers	Rectal Smooth Muscle	rectum
49	chr4:110357200-110358000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr4:110357200-110358000	Enhancers	Hela-S3	cervix

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