Variant report

Variant	rs35427829
Chromosome Location	chr10:38693159-38693160
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	POLR2A	chr10:38691146-38693403	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:38690756-38693454	GM12892	blood:	n/a	n/a
3	PAX5	chr10:38693149-38693363	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:38691377-38693333	GM12891	blood:	n/a	n/a
5	POLR2A	chr10:38690522-38693601	GM12892	blood:	n/a	n/a
6	POU2F2	chr10:38691982-38693379	GM12891	blood:	n/a	n/a
7	POLR2A	chr10:38691287-38693460	GM12891	blood:	n/a	n/a
8	POLR2A	chr10:38692009-38693383	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF3	chr10:38693152-38693352	GM12878	blood:	n/a	n/a
10	POU2F2	chr10:38690863-38693502	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:38692751-38693387	H1-hESC	embryonic stem cell:	n/a	n/a
12	HEY1	chr10:38691108-38693448	K562	blood:	n/a	n/a
13	HEY1	chr10:38693081-38693410	HepG2	liver:	n/a	n/a
14	FOSL2	chr10:38693105-38693417	HepG2	liver:	n/a	n/a
15	POLR2A	chr10:38693152-38693370	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr10:38691269-38693362	GM12878	blood:	n/a	n/a
17	PAX5	chr10:38692728-38693449	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:38689909-38693482	GM12892	blood:	n/a	n/a
19	POLR2A	chr10:38689987-38693615	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:38690697-38693726	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:38690535-38693500	GM12878	blood:	n/a	n/a
22	ZBTB33	chr10:38693071-38693402	GM12878	blood:	n/a	n/a
23	HEY1	chr10:38691301-38693428	K562	blood:	n/a	n/a
24	CTCF	chr10:38691387-38693167	K562	blood:	n/a	n/a

Variant related genes	Relation type
SEPT7P9	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11011582	1.00[AMR][1000 genomes]
rs11498331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11498337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12242023	1.00[AMR][1000 genomes]
rs12242170	1.00[AMR][1000 genomes]
rs12244101	1.00[AMR][1000 genomes]
rs12247862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12250039	1.00[AMR][1000 genomes]
rs12252556	1.00[AMR][1000 genomes]
rs12257173	1.00[AMR][1000 genomes]
rs12257629	1.00[AMR][1000 genomes]
rs12259006	1.00[AMR][1000 genomes]
rs12261622	1.00[AMR][1000 genomes]
rs12264035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12775500	1.00[EUR][1000 genomes]
rs12784488	1.00[EUR][1000 genomes]
rs16937701	1.00[EUR][1000 genomes]
rs28607758	1.00[EUR][1000 genomes]
rs28886590	1.00[AMR][1000 genomes]
rs34453975	1.00[AMR][1000 genomes]
rs34571803	1.00[EUR][1000 genomes]
rs34579247	1.00[EUR][1000 genomes]
rs34908048	1.00[EUR][1000 genomes]
rs35769459	1.00[AMR][1000 genomes]
rs36114117	1.00[EUR][1000 genomes]
rs59353999	1.00[AMR][1000 genomes]
rs71235515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71498883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71500421	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1048953	chr10:38645824-39074038	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv428230	chr10:38652001-38818835	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757379	chr10:38677023-38978680	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759744	chr10:38677023-39154935	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv947860	chr10:38678275-38747483	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv895035	chr10:38678941-38739427	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv895036	chr10:38678941-38741100	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv895037	chr10:38678941-38741777	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895038	chr10:38678941-38890240	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1036840	chr10:38682579-39074038	ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv948258	chr10:38683949-38693538	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv540569	chr10:38689167-38769822	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38691800-38698000	Weak transcription	Spleen	Spleen
2	chr10:38692200-38741000	Weak transcription	Aorta	Aorta
3	chr10:38692400-38739600	Weak transcription	Gastric	stomach
4	chr10:38692600-38698000	Weak transcription	Ovary	ovary
5	chr10:38692600-38699400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:38692600-38716400	Weak transcription	Primary T cells from cord blood	blood
7	chr10:38692600-38736800	Weak transcription	Pancreas	Pancrea
8	chr10:38692600-38737200	Weak transcription	Esophagus	oesophagus
9	chr10:38692800-38693200	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:38692800-38698000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:38692800-38698000	Weak transcription	Lung	lung
12	chr10:38692800-38699800	Weak transcription	Fetal Stomach	stomach
13	chr10:38692800-38700000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:38692800-38700200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:38692800-38701800	Weak transcription	Fetal Intestine Small	intestine
16	chr10:38692800-38703200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:38692800-38709200	Weak transcription	Adipose Nuclei	Adipose
18	chr10:38692800-38714600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:38692800-38728800	Weak transcription	Brain Substantia Nigra	brain
20	chr10:38692800-38736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:38692800-38736800	Weak transcription	Brain Anterior Caudate	brain
22	chr10:38692800-38736800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:38692800-38737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:38692800-38737200	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:38692800-38737400	Weak transcription	Fetal Intestine Large	intestine
26	chr10:38692800-38737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:38692800-38741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr10:38693000-38693200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr10:38693000-38693400	Enhancers	Dnd41	blood
30	chr10:38693000-38697200	Weak transcription	Liver	Liver
31	chr10:38693000-38698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:38693000-38698000	Weak transcription	Left Ventricle	heart
33	chr10:38693000-38700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:38693000-38700200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:38693000-38714000	Weak transcription	Right Ventricle	heart
36	chr10:38693000-38716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:38693000-38736800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr10:38693000-38737200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:38693000-38737200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:38693000-38737200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:38693000-38737200	Weak transcription	Fetal Muscle Leg	muscle
42	chr10:38693000-38737400	Weak transcription	Placenta	Placenta
43	chr10:38693000-38739200	Weak transcription	Primary B cells from peripheral blood	blood

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