Variant report

Variant	rs7548044
Chromosome Location	chr1:151935467-151935468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151919533..151922319-chr1:151932817..151935606,2	MCF-7	breast:
2	chr1:151933684..151936159-chr1:151941486..151943210,2	MCF-7	breast:
3	chr1:151932606..151935514-chr1:151936511..151938848,2	MCF-7	breast:
4	chr1:151913842..151916280-chr1:151933238..151936084,3	MCF-7	breast:
5	chr1:151881894..151884208-chr1:151935307..151938264,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159445	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11204902	1.00[LWK][hapmap]
rs12064020	0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067912	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16828432	0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833610	1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833734	1.00[EUR][1000 genomes]
rs16833865	1.00[EUR][1000 genomes]
rs16833870	1.00[EUR][1000 genomes]
rs16833876	1.00[EUR][1000 genomes]
rs1826173	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2337687	0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41363352	1.00[EUR][1000 genomes]
rs56024264	1.00[EUR][1000 genomes]
rs56124007	1.00[EUR][1000 genomes]
rs56156422	1.00[EUR][1000 genomes]
rs58132665	1.00[EUR][1000 genomes]
rs60525930	1.00[EUR][1000 genomes]
rs6587639	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671719	1.00[AMR][1000 genomes]
rs74126341	1.00[EUR][1000 genomes]
rs74126343	1.00[EUR][1000 genomes]
rs74127703	1.00[EUR][1000 genomes]
rs7532162	1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533854	1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs998750	1.00[AMR][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	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	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7548044	S100A10	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151930800-151940800	Weak transcription	NHDF-Ad	bronchial
2	chr1:151932800-151936400	Enhancers	Fetal Kidney	kidney
3	chr1:151933200-151936200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:151933400-151935600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:151933400-151936400	Enhancers	NHEK	skin
6	chr1:151933600-151937200	Enhancers	HUVEC	blood vessel
7	chr1:151933600-151945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:151934000-151940600	Weak transcription	Gastric	stomach
9	chr1:151934200-151935800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:151934200-151936800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:151934200-151937000	Weak transcription	Stomach Mucosa	stomach
12	chr1:151934200-151940600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:151934200-151942600	Weak transcription	HSMM	muscle
14	chr1:151934400-151940200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:151934600-151936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:151934600-151940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:151934600-151953400	Weak transcription	Psoas Muscle	Psoas
18	chr1:151934800-151936800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:151934800-151939600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:151934800-151940200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:151935200-151936400	Enhancers	Hela-S3	cervix
22	chr1:151935200-151936600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:151935200-151937000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:151935200-151940400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:151935400-151935800	Enhancers	Fetal Muscle Leg	muscle

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