Variant report

Variant	rs1981254
Chromosome Location	chr1:84873835-84873836
allele	A/G
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	chr1:84873460-84874294	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:84873500-84874338	H1-neurons	neurons:	n/a	n/a
3	REST	chr1:84873401-84874283	H1-neurons	neurons:	n/a	n/a
4	NR3C1	chr1:84873510-84873838	A549	lung:	n/a	chr1:84873655-84873673
5	GATA3	chr1:84873350-84873904	T-47D	breast:	n/a	chr1:84873589-84873599 chr1:84873765-84873775
6	GATA3	chr1:84873128-84874019	T-47D	breast:	n/a	chr1:84873259-84873269 chr1:84873589-84873599 chr1:84873765-84873775
7	REST	chr1:84873207-84874580	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
DNASE2B	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11163955	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11163957	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163958	0.91[ASN][1000 genomes]
rs11163959	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163960	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11163963	0.91[ASN][1000 genomes]
rs11578928	0.91[CHB][hapmap]
rs12027418	0.81[CEU][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12029581	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12029668	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12030472	0.91[ASN][1000 genomes]
rs12032962	0.85[ASN][1000 genomes]
rs12034438	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12036961	0.91[ASN][1000 genomes]
rs12123671	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1246386	0.90[JPT][hapmap]
rs1246392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12740453	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1340595	0.90[CHB][hapmap]
rs1506699	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1506700	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1542963	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131659	0.90[JPT][hapmap]
rs1971350	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1995643	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2063037	0.85[ASN][1000 genomes]
rs2066197	0.87[ASN][1000 genomes]
rs2104210	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2185486	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2389723	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3116415	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3116433	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3116435	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3117747	0.90[JPT][hapmap]
rs3121147	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35459071	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3768253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813608	1.00[JPT][hapmap]
rs3956461	0.90[JPT][hapmap]
rs472601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4907063	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4907064	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4907070	0.86[ASN][1000 genomes]
rs507772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528310	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs553775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6576700	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576701	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6576702	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576708	0.85[ASN][1000 genomes]
rs6663802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676987	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs925014	0.85[ASN][1000 genomes]
rs937840	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84870200-84874200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr1:84871000-84874400	Enhancers	Fetal Intestine Large	intestine
3	chr1:84871200-84874200	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:84871200-84874400	Enhancers	Fetal Intestine Small	intestine
5	chr1:84872000-84874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:84872000-84876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:84872200-84874200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:84872200-84874400	Enhancers	Stomach Mucosa	stomach
9	chr1:84872400-84875000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:84872400-84876800	Weak transcription	Gastric	stomach
11	chr1:84872800-84874000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr1:84873000-84874000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:84873200-84874000	Enhancers	HUVEC	blood vessel
14	chr1:84873200-84876400	Weak transcription	Osteobl	bone
15	chr1:84873400-84874000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:84873400-84874200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:84873400-84874400	Enhancers	Liver	Liver
18	chr1:84873600-84874000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:84873600-84874000	Enhancers	Psoas Muscle	Psoas
20	chr1:84873600-84874000	Enhancers	Small Intestine	intestine
21	chr1:84873600-84874000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr1:84873600-84874200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:84873600-84874200	Enhancers	Brain Substantia Nigra	brain
24	chr1:84873600-84874200	Enhancers	Colonic Mucosa	Colon
25	chr1:84873800-84874000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:84873800-84874000	Enhancers	Skeletal Muscle Male	skeletal muscle

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