Variant report

Variant	rs1391805
Chromosome Location	chr7:26896236-26896237
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	chr7:26896171-26896543	H1-neurons	neurons:	n/a	n/a
2	MYC	chr7:26895877-26896490	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr7:26896148-26896280	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:26896033-26896357	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26894665..26897647-chr7:27182466..27184718,4	MCF-7	breast:
2	chr7:26894828..26897181-chr7:27200837..27202990,2	K562	blood:
3	chr7:26893506..26896293-chr7:26902424..26905026,3	MCF-7	breast:
4	chr7:26894678..26896550-chr7:27170054..27174548,4	MCF-7	breast:

Variant related genes	Relation type
SKAP2	TF binding region
ENSG00000106004	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000197576	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10228105	0.90[TSI][hapmap]
rs10231272	0.81[ASN][1000 genomes]
rs10235427	0.81[ASN][1000 genomes]
rs10235680	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs10249383	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10252268	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10262797	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs10271306	0.81[ASN][1000 genomes]
rs10486480	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs10486481	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17323962	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[ASN][1000 genomes]
rs213524	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471536	1.00[JPT][hapmap]
rs477924	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs490366	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.81[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs501985	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs534981	1.00[JPT][hapmap]
rs550141	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs564260	1.00[JPT][hapmap]
rs567124	1.00[JPT][hapmap]
rs586947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591895	0.83[YRI][hapmap]
rs592359	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs622011	1.00[JPT][hapmap]
rs636371	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs640512	0.90[YRI][hapmap]
rs668052	0.82[AFR][1000 genomes]
rs673502	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs680704	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688039	1.00[JPT][hapmap]
rs6960091	1.00[CHB][hapmap]
rs73069515	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1391805	PRR15	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26867200-26897000	Weak transcription	Lung	lung
2	chr7:26871000-26902200	Weak transcription	Dnd41	blood
3	chr7:26877200-26897000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:26877200-26897000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:26886200-26903400	Weak transcription	Spleen	Spleen
6	chr7:26892800-26897200	Weak transcription	Pancreas	Pancrea
7	chr7:26893600-26897800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:26894400-26897000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr7:26894400-26897400	Enhancers	A549	lung
10	chr7:26894600-26896400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26895000-26898400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:26895200-26896600	Flanking Active TSS	HUVEC	blood vessel
13	chr7:26895200-26897200	Active TSS	HMEC	breast
14	chr7:26895200-26897600	Active TSS	NHLF	lung
15	chr7:26895200-26898200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:26895600-26897000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:26895800-26896400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:26895800-26896600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:26895800-26897800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:26895800-26898800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:26896000-26896400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:26896000-26896400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
23	chr7:26896000-26896400	Enhancers	Rectal Smooth Muscle	rectum
24	chr7:26896000-26896400	Flanking Active TSS	NHDF-Ad	bronchial
25	chr7:26896000-26896600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:26896000-26896600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:26896000-26896800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:26896000-26896800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:26896000-26896800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:26896000-26897000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr7:26896000-26897600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:26896000-26898600	Active TSS	Stomach Smooth Muscle	stomach
33	chr7:26896200-26896400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr7:26896200-26896400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr7:26896200-26896400	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:26896200-26896400	Bivalent Enhancer	Colon Smooth Muscle	Colon
37	chr7:26896200-26896400	Bivalent Enhancer	Fetal Intestine Large	intestine
38	chr7:26896200-26896400	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr7:26896200-26896400	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr7:26896200-26896400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr7:26896200-26896400	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:26896200-26896400	Flanking Active TSS	NHEK	skin
43	chr7:26896200-26896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:26896200-26896800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr7:26896200-26897000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:26896200-26897000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:26896200-26898400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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