Variant report

Variant	rs10899802
Chromosome Location	chr10:43931587-43931588
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr10:43931532-43932622	K562	blood:	n/a	chr10:43932545-43932554
2	MXI1	chr10:43931441-43933680	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr10:43930733-43932910	HepG2	liver:	n/a	n/a
4	MXI1	chr10:43931520-43933034	IMR90	lung:	n/a	n/a
5	NR2F2	chr10:43931518-43932846	K562	blood:	n/a	n/a
6	POLR2A	chr10:43931433-43933157	Hela-S3	cervix:	n/a	n/a
7	REST	chr10:43931585-43932878	H1-neurons	neurons:	n/a	chr10:43932797-43932810 chr10:43932557-43932570 chr10:43932237-43932247
8	MAX	chr10:43931550-43932853	K562	blood:	n/a	chr10:43932575-43932584
9	HEY1	chr10:43931577-43932922	HepG2	liver:	n/a	chr10:43932715-43932730
10	PML	chr10:43931536-43932618	K562	blood:	n/a	n/a
11	SIN3AK20	chr10:43931581-43933166	MCF-7	breast:	n/a	n/a
12	CBX3	chr10:43931575-43933002	K562	blood:	n/a	n/a
13	ZNF384	chr10:43931353-43932547	K562	blood:	n/a	n/a
14	POLR2A	chr10:43931527-43933130	Hela-S3	cervix:	n/a	n/a
15	ZNF384	chr10:43931527-43932453	GM12878	blood:	n/a	n/a
16	MYBL2	chr10:43931585-43932546	HepG2	liver:	n/a	n/a
17	TRIM28	chr10:43931549-43932698	K562	blood:	n/a	n/a
18	POLR2A	chr10:43931523-43932611	K562	blood:	n/a	n/a
19	MYC	chr10:43931570-43932737	K562	blood:	n/a	chr10:43932575-43932584

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43903244..43904543-chr10:43931320..43932838,6	Hela-S3	cervix:
2	chr10:43889891..43893674-chr10:43930869..43934431,5	MCF-7	breast:
3	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
4	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
5	chr10:43931567..43932335-chr8:33342087..33342660,2	Hela-S3	cervix:
6	chr10:43913553..43915356-chr10:43929097..43931961,3	K562	blood:
7	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
8	chr10:43930452..43932223-chr17:43227607..43229368,2	K562	blood:
9	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
10	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
11	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF487	TF binding region
ENSG00000221400	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000230555	Chromatin interaction
ENSG00000198042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10409	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899791	0.84[ASN][1000 genomes]
rs10899793	0.84[ASN][1000 genomes]
rs10899796	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899800	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899801	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899803	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899806	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899808	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238525	0.82[ASN][1000 genomes]
rs11238530	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11238532	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238536	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238553	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11238558	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11238566	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11238572	0.88[AMR][1000 genomes]
rs11525297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11815101	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12220230	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12220528	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12245541	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12250140	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12254798	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12261855	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12262836	0.88[AMR][1000 genomes]
rs13376803	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13376924	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153534	0.84[ASN][1000 genomes]
rs28865415	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4648316	0.84[ASN][1000 genomes]
rs59383062	0.84[ASN][1000 genomes]
rs59806733	0.85[ASN][1000 genomes]
rs7099802	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7907179	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7921001	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr10:43916800-43931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:43916800-43931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:43917000-43931600	Weak transcription	Fetal Brain Female	brain
4	chr10:43917200-43931600	Weak transcription	Brain Anterior Caudate	brain
5	chr10:43917400-43931600	Weak transcription	Brain Angular Gyrus	brain
6	chr10:43917600-43931600	Weak transcription	Right Ventricle	heart
7	chr10:43920200-43931600	Weak transcription	Fetal Lung	lung
8	chr10:43923800-43931600	Weak transcription	Primary T cells from cord blood	blood
9	chr10:43925800-43931600	Weak transcription	Left Ventricle	heart
10	chr10:43928800-43931600	Weak transcription	Fetal Intestine Small	intestine
11	chr10:43929400-43931600	Weak transcription	Fetal Stomach	stomach
12	chr10:43929800-43931600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:43929800-43931600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:43930000-43931600	Weak transcription	NHDF-Ad	bronchial
15	chr10:43930400-43931600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr10:43930400-43931600	Enhancers	Primary B cells from peripheral blood	blood
17	chr10:43930400-43931600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr10:43930400-43931600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr10:43930400-43931600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:43930400-43931600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr10:43930400-43933000	Active TSS	Hela-S3	cervix
22	chr10:43930600-43931600	Enhancers	Primary B cells from cord blood	blood
23	chr10:43930600-43931600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr10:43930600-43931600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr10:43930600-43931600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr10:43930600-43931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr10:43930600-43933000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:43930800-43931600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr10:43930800-43931600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:43930800-43931600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:43930800-43931600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr10:43930800-43931600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:43930800-43931600	Enhancers	Fetal Heart	heart
34	chr10:43930800-43931600	Enhancers	Fetal Muscle Leg	muscle
35	chr10:43930800-43933200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:43930800-43933200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr10:43931000-43931600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:43931000-43931600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:43931000-43931600	Weak transcription	Brain Substantia Nigra	brain
40	chr10:43931000-43931600	Enhancers	Fetal Brain Male	brain
41	chr10:43931000-43931600	Weak transcription	Stomach Mucosa	stomach
42	chr10:43931000-43931600	Enhancers	Thymus	Thymus
43	chr10:43931000-43931600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr10:43931000-43931800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr10:43931000-43932800	Active TSS	Brain Hippocampus Middle	brain
46	chr10:43931000-43932800	Active TSS	NHEK	skin
47	chr10:43931000-43933000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:43931000-43933000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:43931000-43933000	Active TSS	HSMM	muscle
50	chr10:43931000-43933200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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