Variant report

Variant	rs11099782
Chromosome Location	chr4:152048936-152048937
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152041688..152043388-chr4:152046968..152049061,2	K562	blood:
2	chr4:152019659..152022193-chr4:152047340..152050162,3	K562	blood:

Variant related genes	Relation type
ENSG00000145425	Chromatin interaction
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10000557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10001039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10005907	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10011421	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10030785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10032477	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10222881	1.00[JPT][hapmap]
rs1046168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10776521	0.84[ASN][1000 genomes]
rs10776523	0.84[ASN][1000 genomes]
rs10857254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10857255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099787	0.88[ASN][1000 genomes]
rs11099788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11099791	0.84[ASN][1000 genomes]
rs11099795	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11723219	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11726180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11734586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11938266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11943477	1.00[JPT][hapmap]
rs1201210	1.00[JPT][hapmap]
rs12500168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12507657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13123932	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13125574	1.00[JPT][hapmap]
rs13146584	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1878796	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2407406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2407411	1.00[JPT][hapmap]
rs2407424	0.84[ASN][1000 genomes]
rs2407425	0.84[ASN][1000 genomes]
rs2407426	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2407428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2407429	0.84[ASN][1000 genomes]
rs2407439	0.86[ASN][1000 genomes]
rs2407440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2407441	0.86[ASN][1000 genomes]
rs2897657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2897660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4434229	0.84[ASN][1000 genomes]
rs4640649	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4696226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4696227	0.82[EUR][1000 genomes]
rs4696229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4696235	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4696237	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4696648	1.00[JPT][hapmap]
rs4696661	0.84[EUR][1000 genomes]
rs6535763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6535765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6535766	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6812695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6819599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6823953	1.00[JPT][hapmap]
rs6825613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6825952	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6826120	0.82[EUR][1000 genomes]
rs6826863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6828937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6829963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6833956	1.00[JPT][hapmap]
rs6837905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6844415	0.82[EUR][1000 genomes]
rs6847927	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6853215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6858377	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7659146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7668154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7672381	0.80[EUR][1000 genomes]
rs7677374	1.00[JPT][hapmap]
rs7678748	1.00[JPT][hapmap]
rs7683092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7689095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7690329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs891689	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers 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	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
15	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
20	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
22	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
24	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152022800-152069800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:152025000-152073200	Weak transcription	Stomach Mucosa	stomach
3	chr4:152025200-152073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:152025200-152085400	Weak transcription	Hela-S3	cervix
5	chr4:152027000-152086600	Weak transcription	Fetal Kidney	kidney
6	chr4:152027200-152050400	Weak transcription	Aorta	Aorta
7	chr4:152027200-152095600	Weak transcription	Pancreas	Pancrea
8	chr4:152027800-152050800	Weak transcription	Spleen	Spleen
9	chr4:152027800-152065000	Weak transcription	Gastric	stomach
10	chr4:152028600-152065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:152028800-152049000	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:152029200-152060800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:152029200-152065200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:152029200-152070600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:152031800-152052800	Weak transcription	Fetal Brain Female	brain
16	chr4:152033000-152059000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:152034800-152050600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:152035600-152072400	Weak transcription	Fetal Brain Male	brain
19	chr4:152036600-152058400	Weak transcription	Fetal Heart	heart
20	chr4:152036800-152049200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:152039400-152058600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:152039800-152051200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:152040200-152065800	Strong transcription	Adipose Nuclei	Adipose
24	chr4:152040400-152051600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr4:152040400-152067200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:152040400-152073800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:152040800-152056400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr4:152041600-152052000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr4:152042000-152059400	Strong transcription	NH-A	brain
30	chr4:152042800-152054000	Strong transcription	Fetal Intestine Small	intestine
31	chr4:152043200-152052200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:152043400-152095800	Weak transcription	Placenta	Placenta
33	chr4:152043800-152050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:152043800-152057600	Strong transcription	Fetal Stomach	stomach
35	chr4:152044000-152054600	Weak transcription	Small Intestine	intestine
36	chr4:152044000-152060800	Weak transcription	NHEK	skin
37	chr4:152044600-152051800	Strong transcription	Lung	lung
38	chr4:152044600-152054400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:152044600-152056400	Strong transcription	Liver	Liver
40	chr4:152045000-152052800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:152045400-152051000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:152045400-152051600	Strong transcription	Left Ventricle	heart
43	chr4:152045600-152049200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:152045600-152051600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:152045600-152051800	Strong transcription	HepG2	liver
46	chr4:152046000-152051000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:152046000-152052000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:152046000-152054800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:152046000-152067200	Strong transcription	Fetal Intestine Large	intestine
50	chr4:152046200-152052000	Strong transcription	H1 Cell Line	embryonic stem cell

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