Variant report

Variant	rs7544269
Chromosome Location	chr1:151816563-151816564
allele	A/G
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:2)
LncRNA
region (count:4)
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	MAX	chr1:151816425-151816660	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151816087..151819402-chr1:151853584..151856662,4	MCF-7	breast:
2	chr1:151814545..151817210-chr1:151817754..151819395,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-2	chr1:151816517-151816718	NONHSAT006443
2	lnc-OAZ3-2	chr1:151816521-151816718	ENSG00000234614.1
3	lnc-OAZ3-2	chr1:151816521-151816718	NONHSAT006440
4	lnc-OAZ3-2	chr1:151816491-151816718	NONHSAT006442

No data

Variant related genes	Relation type
ENSG00000201134	TF binding region
C2CD4D	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10888439	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11204899	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204900	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204901	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12083746	0.82[AFR][1000 genomes]
rs12140021	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16833584	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2130529	0.88[ASN][1000 genomes]
rs6587625	0.83[JPT][hapmap]
rs7536659	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7544269	S100A10	cis	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151810000-151818800	Weak transcription	A549	lung
2	chr1:151812800-151820600	Weak transcription	Right Atrium	heart
3	chr1:151813200-151818800	Weak transcription	Placenta	Placenta
4	chr1:151813200-151818800	Weak transcription	Gastric	stomach
5	chr1:151813200-151819000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:151813400-151818400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:151813400-151818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:151813400-151818600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:151813400-151818600	Weak transcription	Pancreas	Pancrea
10	chr1:151813400-151818800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:151813400-151819000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:151813400-151819000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:151813400-151821200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:151813400-151828600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:151813800-151818600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:151813800-151818600	Weak transcription	NHEK	skin
17	chr1:151814000-151818200	Weak transcription	Hela-S3	cervix
18	chr1:151814000-151819000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:151814000-151820800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:151814200-151818600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:151814400-151818600	Weak transcription	HMEC	breast
22	chr1:151814600-151818600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:151814600-151818600	Weak transcription	HUVEC	blood vessel
24	chr1:151814800-151818600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:151814800-151827400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:151815600-151817200	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:151815800-151817400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:151816200-151816800	Enhancers	Primary B cells from cord blood	blood
29	chr1:151816400-151817800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:151816400-151818600	Weak transcription	Primary hematopoietic stem cells	blood

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