Variant report

Variant	rs10206797
Chromosome Location	chr2:74228465-74228466
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	MXI1	chr2:74228178-74230662	IMR90	lung:	n/a	n/a
2	FOS	chr2:74228319-74228670	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr2:74228431-74228670	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:74228343-74228671	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr2:74228382-74228619	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF263	chr2:74226599-74228865	HEK293-T-REx	kidney:	n/a	chr2:74226898-74226907
7	STAT3	chr2:74228405-74228636	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74227509..74230131-chr2:74424857..74427331,4	MCF-7	breast:
2	chr2:74227214..74229329-chr2:74244433..74246897,2	K562	blood:
3	chr2:74227468..74229424-chr2:74305762..74308272,2	K562	blood:
4	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:
5	chr2:74156030..74157687-chr2:74228022..74229641,2	K562	blood:
6	chr2:74055799..74057566-chr2:74228295..74229864,2	MCF-7	breast:
7	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:

Variant related genes	Relation type
TET3	TF binding region
ENSG00000114956	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10165243	0.84[EUR][1000 genomes]
rs10166357	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12713802	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13391360	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391722	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13404452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13416937	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28534414	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28569001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34363691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34961871	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35259799	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35972889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4241258	0.90[EUR][1000 genomes]
rs7581252	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7608044	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:74221200-74228800	Weak transcription	Psoas Muscle	Psoas
5	chr2:74221400-74229000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:74222600-74229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:74222800-74229000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:74222800-74229200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:74223800-74228800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:74224000-74229200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74224000-74229200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:74224000-74229400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:74224000-74230000	Enhancers	Fetal Brain Male	brain
14	chr2:74224800-74229000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:74225400-74229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:74225600-74228600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:74225600-74229200	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:74225800-74229200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:74226000-74229200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:74226000-74229200	Enhancers	Placenta	Placenta
21	chr2:74226000-74229400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:74226000-74229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:74226200-74228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:74226200-74228800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:74226200-74229000	Enhancers	Fetal Brain Female	brain
26	chr2:74226200-74229200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:74226200-74229400	Enhancers	A549	lung
28	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
29	chr2:74226400-74228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:74226400-74229000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:74226400-74229200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:74226400-74229200	Genic enhancers	Fetal Intestine Small	intestine
33	chr2:74226400-74229200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr2:74226400-74229200	Enhancers	K562	blood
35	chr2:74226400-74229400	Enhancers	Fetal Intestine Large	intestine
36	chr2:74226400-74229400	Enhancers	Lung	lung
37	chr2:74226600-74228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:74226600-74228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:74226600-74228800	Enhancers	Stomach Mucosa	stomach
40	chr2:74226600-74229000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:74226600-74229200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:74226600-74229200	Enhancers	Fetal Lung	lung
43	chr2:74226600-74229400	Enhancers	Esophagus	oesophagus
44	chr2:74226600-74229600	Enhancers	NHEK	skin
45	chr2:74226600-74229800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:74226800-74229000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:74226800-74229000	Enhancers	Brain Hippocampus Middle	brain
48	chr2:74226800-74229200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:74226800-74229200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:74226800-74229200	Enhancers	Fetal Muscle Leg	muscle

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