Variant report

Variant	rs7100137
Chromosome Location	chr10:97598203-97598204
allele	A/C
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	chr10:97596341-97598608	GM18505	blood:	n/a	n/a
2	POLR2A	chr10:97596362-97598568	GM19099	blood:	n/a	n/a
3	RELA	chr10:97596905-97598486	GM18505	blood:	n/a	n/a
4	NFIC	chr10:97597139-97598221	GM12878	blood:	n/a	n/a
5	NFATC1	chr10:97596297-97598523	GM12878	blood:	n/a	n/a
6	MXI1	chr10:97597153-97598346	GM12878	blood:	n/a	n/a
7	PML	chr10:97596259-97598570	GM12878	blood:	n/a	n/a
8	MEF2A	chr10:97597359-97598263	GM12878	blood:	n/a	chr10:97597775-97597792 chr10:97597777-97597792
9	RELA	chr10:97596569-97598487	GM15510	blood:	n/a	n/a
10	NFIC	chr10:97596538-97598651	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:97596457-97598591	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:97598162-97598643	GM12891	blood:	n/a	n/a
13	EP300	chr10:97597480-97598257	GM12878	blood:	n/a	n/a
14	ATF2	chr10:97597122-97598505	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:97596210-97598687	GM12878	blood:	n/a	n/a
16	SPI1	chr10:97597194-97598306	GM12878	blood:	n/a	chr10:97597865-97597878 chr10:97597651-97597664
17	POLR2A	chr10:97598181-97598655	GM12892	blood:	n/a	n/a
18	POLR2A	chr10:97596339-97599695	GM12891	blood:	n/a	n/a
19	MTA3	chr10:97596281-97598646	GM12878	blood:	n/a	n/a
20	EP300	chr10:97597122-97598287	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:97596353-97598552	GM12892	blood:	n/a	n/a
22	POLR2A	chr10:97596330-97598631	GM12878	blood:	n/a	n/a
23	NFATC1	chr10:97596542-97598642	GM12878	blood:	n/a	n/a
24	POLR2A	chr10:97598193-97598526	GM12878	blood:	n/a	n/a
25	SMC3	chr10:97597381-97598349	GM12878	blood:	n/a	n/a
26	POLR2A	chr10:97598131-97598553	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10786235	0.88[ASN][1000 genomes]
rs10786238	0.97[ASN][1000 genomes]
rs10882670	0.90[ASN][1000 genomes]
rs11188482	0.86[ASN][1000 genomes]
rs11188485	0.97[ASN][1000 genomes]
rs11188488	0.97[ASN][1000 genomes]
rs11498722	0.82[ASN][1000 genomes]
rs11528098	0.88[ASN][1000 genomes]
rs12240959	0.88[ASN][1000 genomes]
rs12262943	0.87[ASN][1000 genomes]
rs1340837	0.89[AFR][1000 genomes]
rs2901874	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3176883	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4409759	0.90[ASN][1000 genomes]
rs60227189	0.90[ASN][1000 genomes]
rs6584026	0.88[ASN][1000 genomes]
rs6584028	0.88[ASN][1000 genomes]
rs6584031	0.88[ASN][1000 genomes]
rs6584033	0.89[ASN][1000 genomes]
rs7069234	0.88[ASN][1000 genomes]
rs7084741	0.87[ASN][1000 genomes]
rs7090320	0.97[ASN][1000 genomes]
rs7098750	0.88[ASN][1000 genomes]
rs7901116	0.88[ASN][1000 genomes]
rs7909917	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking 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	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic 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	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
2	chr10:97581000-97600600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:97581200-97602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:97586200-97600000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:97590200-97598800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr10:97591600-97601000	Weak transcription	Spleen	Spleen
7	chr10:97592000-97602200	Enhancers	Primary B cells from cord blood	blood
8	chr10:97592000-97607200	Weak transcription	Left Ventricle	heart
9	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:97592800-97600400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:97593000-97601400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:97594200-97601200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:97594200-97601400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:97594200-97602200	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:97594400-97600400	Weak transcription	Fetal Intestine Large	intestine
16	chr10:97596400-97598600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:97596800-97598400	Flanking Active TSS	GM12878-XiMat	blood
18	chr10:97597000-97598400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr10:97597200-97599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:97597200-97601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:97597200-97601600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:97597200-97627200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:97597400-97598400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:97597400-97599600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:97597400-97600600	Weak transcription	Small Intestine	intestine
26	chr10:97597400-97601200	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:97597400-97601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:97597400-97601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:97597400-97601400	Weak transcription	Brain Substantia Nigra	brain
30	chr10:97597400-97602600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:97597400-97604600	Weak transcription	Lung	lung
32	chr10:97597400-97624600	Weak transcription	Placenta	Placenta
33	chr10:97597400-97627400	Weak transcription	Brain Angular Gyrus	brain
34	chr10:97597600-97600800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:97597600-97601200	Weak transcription	Brain Anterior Caudate	brain
36	chr10:97597600-97601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:97597600-97609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr10:97597600-97620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr10:97597800-97600000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr10:97597800-97601400	Weak transcription	Fetal Stomach	stomach
41	chr10:97597800-97601400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr10:97598000-97599000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:97598000-97600200	Weak transcription	HepG2	liver
44	chr10:97598000-97600400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:97598200-97598400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr10:97598200-97601400	Weak transcription	Colon Smooth Muscle	Colon
47	chr10:97598200-97602600	Weak transcription	Stomach Smooth Muscle	stomach

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