Variant report

Variant	rs11810074
Chromosome Location	chr1:86822226-86822227
allele	C/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	chr1:86822080-86822230	HVMF	connective:	n/a	n/a
2	RAD21	chr1:86821894-86822230	H1-hESC	embryonic stem cell:	n/a	chr1:86822047-86822066
3	CTCF	chr1:86821896-86822231	K562	blood:	n/a	chr1:86822044-86822065 chr1:86822049-86822067
4	RAD21	chr1:86821865-86822259	H1-hESC	embryonic stem cell:	n/a	chr1:86822047-86822066
5	RAD21	chr1:86821859-86822237	HCT-116	colon:	n/a	chr1:86822047-86822066
6	CTCF	chr1:86822100-86822250	HAc	cerebellar:	n/a	n/a
7	RAD21	chr1:86821836-86822294	H1-hESC	embryonic stem cell:	n/a	chr1:86822047-86822066

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86821077..86823352-chr1:86861196..86863227,2	K562	blood:

Variant related genes	Relation type
ODF2L	TF binding region
ENSG00000122417	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11161796	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11161797	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803763	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079988	1.00[AMR][1000 genomes]
rs12096446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34372019	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3765987	0.87[YRI][hapmap]
rs56841249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949810	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949857	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949858	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949875	1.00[AFR][1000 genomes]
rs72949879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951845	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1792405	chr1:86814270-86825639	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	esv3453694	chr1:86821560-86823342	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3376663	chr1:86821578-86823162	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3491391	chr1:86821606-86823327	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3491392	chr1:86821606-86823327	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3453695	chr1:86821628-86823273	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:86813800-86836400	Weak transcription	Lung	lung
4	chr1:86813800-86842600	Weak transcription	Fetal Heart	heart
5	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
6	chr1:86816000-86842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:86816200-86824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:86816200-86826200	Weak transcription	A549	lung
9	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
10	chr1:86817400-86824400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:86817400-86824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:86817400-86826000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:86817400-86826000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:86817400-86826200	Strong transcription	HUVEC	blood vessel
15	chr1:86817600-86825200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:86817600-86825400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:86817600-86826000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:86817600-86826200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:86817600-86843000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:86817800-86828000	Weak transcription	Fetal Stomach	stomach
21	chr1:86817800-86828000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:86817800-86835400	Weak transcription	Esophagus	oesophagus
23	chr1:86817800-86840000	Weak transcription	GM12878-XiMat	blood
24	chr1:86817800-86842400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:86818000-86822400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:86818000-86842600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:86818000-86843200	Weak transcription	Pancreas	Pancrea
28	chr1:86818000-86851600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:86818200-86841000	Weak transcription	Fetal Kidney	kidney
30	chr1:86818400-86823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:86818400-86824000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:86818600-86822400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:86818600-86822400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:86818800-86823600	Strong transcription	Primary T cells from cord blood	blood
35	chr1:86819000-86824000	Strong transcription	Fetal Intestine Large	intestine
36	chr1:86819000-86838400	Weak transcription	NHDF-Ad	bronchial
37	chr1:86819800-86823200	Weak transcription	Colonic Mucosa	Colon
38	chr1:86819800-86824000	Weak transcription	Right Ventricle	heart
39	chr1:86819800-86828000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:86819800-86830200	Weak transcription	Spleen	Spleen
41	chr1:86819800-86839400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:86819800-86839400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:86819800-86840200	Weak transcription	Brain Angular Gyrus	brain
44	chr1:86819800-86840200	Weak transcription	HMEC	breast
45	chr1:86819800-86842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:86819800-86842600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:86819800-86843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:86819800-86843000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:86820200-86823600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:86820200-86824000	Weak transcription	H1 Cell Line	embryonic stem cell

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