Variant report

Variant	rs2999555
Chromosome Location	chr1:152014485-152014486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:152014367-152014748	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
2	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
3	chr1:152013400..152016839-chr1:152017055..152020661,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-3	chr1:152014061-152015250	ENSG00000229021.2

No data

Variant related genes	Relation type
S100A11	TF binding region
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1003107	1.00[CHB][hapmap]
rs10158030	1.00[CHB][hapmap]
rs1038746	1.00[CHB][hapmap]
rs1038748	1.00[CHB][hapmap]
rs10788813	1.00[CHB][hapmap]
rs10788816	1.00[CHB][hapmap]
rs10888453	1.00[CHB][hapmap]
rs11204911	1.00[CHB][hapmap]
rs11204912	1.00[CHB][hapmap]
rs11204923	0.82[CEU][hapmap]
rs11578030	1.00[CHB][hapmap]
rs12723616	1.00[CHB][hapmap]
rs1387834	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs1387835	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs1490187	1.00[CHB][hapmap]
rs1490191	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs1496037	1.00[CHB][hapmap]
rs1552606	1.00[CHB][hapmap]
rs1552607	1.00[CHB][hapmap]
rs1602245	1.00[CHB][hapmap]
rs1602248	1.00[CHB][hapmap]
rs17583707	1.00[CHB][hapmap]
rs1873311	1.00[CHB][hapmap]
rs1873312	1.00[CHB][hapmap]
rs1967085	1.00[CHB][hapmap];0.88[MEX][hapmap]
rs2338018	1.00[CHB][hapmap]
rs2932563	1.00[CHB][hapmap]
rs2932567	1.00[CHB][hapmap]
rs2932592	1.00[CHB][hapmap]
rs2999514	1.00[CHB][hapmap]
rs2999527	1.00[CHB][hapmap]
rs2999529	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2999535	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2999536	1.00[CHB][hapmap]
rs2999537	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2999538	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs2999547	1.00[JPT][hapmap]
rs2999550	0.84[ASN][1000 genomes]
rs2999551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2999552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2999553	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2999554	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2999558	1.00[CHB][hapmap]
rs2999559	0.85[ASN][1000 genomes]
rs3001979	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3007671	1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3007672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[EUR][1000 genomes]
rs3007673	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3007674	0.91[ASN][1000 genomes]
rs3007676	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[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007677	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3007678	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3007679	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];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3007690	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3007700	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3007701	1.00[CHB][hapmap]
rs3007704	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs3122300	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[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3122301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3122302	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3122303	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3122304	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3134814	1.00[CHB][hapmap]
rs3811422	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845385	1.00[CHB][hapmap]
rs4845388	1.00[CHB][hapmap]
rs4845393	1.00[CHB][hapmap]
rs4845660	1.00[CHB][hapmap]
rs4845664	1.00[CHB][hapmap]
rs6587626	1.00[CHB][hapmap]
rs6587628	1.00[CHB][hapmap]
rs6587629	1.00[CHB][hapmap]
rs6587630	1.00[CHB][hapmap]
rs6587641	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs6659029	1.00[CHB][hapmap]
rs6685291	1.00[CHB][hapmap]
rs6691350	1.00[CHB][hapmap]
rs7529451	1.00[CHB][hapmap]
rs7532721	1.00[CHB][hapmap]
rs902314	1.00[CHB][hapmap]
rs902315	1.00[CHB][hapmap]
rs959945	1.00[CHB][hapmap];0.89[MEX][hapmap]
rs9943225	1.00[CHB][hapmap]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2999555	S100A11	cis	lymphoblastoid	seeQTL
rs2999555	S100A11	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152009600-152019800	Weak transcription	Small Intestine	intestine
2	chr1:152010000-152016400	Weak transcription	Adipose Nuclei	Adipose
3	chr1:152010000-152017000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:152010000-152018400	Weak transcription	A549	lung
5	chr1:152010000-152018400	Weak transcription	NHEK	skin
6	chr1:152010000-152019800	Weak transcription	Primary T cells from cord blood	blood
7	chr1:152010000-152020000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:152010200-152016000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:152010200-152020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:152010200-152020000	Weak transcription	Colonic Mucosa	Colon
11	chr1:152010200-152020400	Weak transcription	Gastric	stomach
12	chr1:152010800-152018600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:152011200-152016400	Weak transcription	Hela-S3	cervix
14	chr1:152011400-152019600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:152012000-152015200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:152012600-152019200	Weak transcription	Esophagus	oesophagus
17	chr1:152012800-152016200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:152012800-152019600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:152012800-152019600	Weak transcription	Thymus	Thymus
20	chr1:152013000-152016000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:152013200-152018600	Weak transcription	K562	blood
22	chr1:152013800-152016000	Weak transcription	Fetal Thymus	thymus
23	chr1:152014000-152018800	Weak transcription	Stomach Mucosa	stomach
24	chr1:152014400-152016400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:152014400-152016600	Weak transcription	Monocytes-CD14+_RO01746	blood

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