Variant report

Variant	rs1800038
Chromosome Location	chr10:112838892-112838893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112837126..112840004-chr10:112842044..112844644,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11195384	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap]
rs11195386	0.87[JPT][hapmap];0.87[YRI][hapmap]
rs11195389	0.88[JPT][hapmap];0.87[YRI][hapmap]
rs11195392	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs11195393	0.84[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs11195402	0.82[AFR][1000 genomes]
rs11195421	0.80[AMR][1000 genomes]
rs12241684	0.85[AFR][1000 genomes]
rs12242885	0.84[AMR][1000 genomes]
rs12244153	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12245003	0.88[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12247360	0.84[AMR][1000 genomes]
rs12248431	0.94[JPT][hapmap];0.87[YRI][hapmap];0.81[ASN][1000 genomes]
rs12248739	0.86[ASW][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap]
rs12249521	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12249906	0.87[YRI][hapmap]
rs12253950	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12257528	0.82[AMR][1000 genomes]
rs12259584	0.80[AMR][1000 genomes]
rs12264063	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1327552	0.86[ASW][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13306146	1.00[ASW][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1410052	0.86[ASW][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap]
rs17128270	0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17128355	0.94[AFR][1000 genomes]
rs4378315	0.80[AMR][1000 genomes]
rs488003	0.82[AMR][1000 genomes]
rs4917593	0.86[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4918610	0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap]
rs4918620	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4918621	0.81[AMR][1000 genomes]
rs4918622	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4918624	0.82[AMR][1000 genomes]
rs55879225	0.82[ASN][1000 genomes]
rs56005122	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs57258802	0.80[AMR][1000 genomes]
rs59265487	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60227073	0.80[AMR][1000 genomes]
rs60899455	0.80[AMR][1000 genomes]
rs670082	0.81[AMR][1000 genomes]
rs7905110	0.82[AMR][1000 genomes]
rs7918801	0.82[AMR][1000 genomes]
rs9804245	0.89[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498045	chr10:112794518-113353550	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv825566	chr10:112830014-112871333	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527400	chr10:112833561-112843085	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv896004	chr10:112834763-112842961	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3321787	chr10:112835962-112840760	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv896005	chr10:112835992-112846298	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3377744	chr10:112837487-112840335	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3426722	chr10:112837812-112839710	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112835600-112839000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr10:112835600-112839000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:112835800-112840400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr10:112836000-112839200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:112836800-112839200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr10:112837000-112839400	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr10:112837200-112839600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:112837600-112839000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
9	chr10:112837600-112839600	Bivalent Enhancer	Placenta	Placenta
10	chr10:112838000-112839000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:112838000-112839000	Bivalent Enhancer	Fetal Heart	heart
12	chr10:112838000-112839200	ZNF genes & repeats	Gastric	stomach
13	chr10:112838000-112839600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:112838000-112839600	Transcr. at gene 5' and 3'	Pancreas	Pancrea
15	chr10:112838200-112839000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:112838200-112839000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr10:112838200-112839200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr10:112838400-112839000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:112838400-112839000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr10:112838400-112839000	Active TSS	Duodenum Mucosa	Duodenum
21	chr10:112838400-112839000	Bivalent Enhancer	Lung	lung
22	chr10:112838400-112839200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
23	chr10:112838400-112839200	Active TSS	Colonic Mucosa	Colon
24	chr10:112838400-112839400	ZNF genes & repeats	Spleen	Spleen
25	chr10:112838400-112840400	Bivalent Enhancer	Fetal Stomach	stomach
26	chr10:112838400-112847200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:112838600-112839000	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:112838600-112839000	Active TSS	Ovary	ovary
29	chr10:112838600-112839000	Bivalent Enhancer	NH-A	brain
30	chr10:112838800-112839000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:112838800-112839000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:112838800-112839000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr10:112838800-112839400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr10:112838800-112839400	Enhancers	Right Atrium	heart
35	chr10:112838800-112839800	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr10:112838800-112839800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr10:112838800-112839800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr10:112838800-112840200	Flanking Active TSS	Adipose Nuclei	Adipose

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