Variant report

Variant	rs6591240
Chromosome Location	chr11:67072786-67072787
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:8)
LncRNA
region (count:0)
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	SIN3AK20	chr11:67069436-67072792	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
2	chr11:67071730..67073534-chr11:67162398..67164599,2	MCF-7	breast:
3	chr11:67071359..67073756-chr16:3070064..3072908,2	MCF-7	breast:
4	chr11:67071096..67073778-chr17:56708400..56710426,2	MCF-7	breast:
5	chr11:67070778..67073065-chr11:67157993..67159732,2	MCF-7	breast:
6	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
7	chr11:67070995..67072990-chr11:67129655..67131719,2	K562	blood:
8	chr11:67069948..67073118-chr11:67121673..67124639,3	MCF-7	breast:

No data

Variant related genes	Relation type
SSH3	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000253024	Chromatin interaction
ENSG00000184697	Chromatin interaction
ENSG00000006327	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000201684	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3737460	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4244822	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7934433	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
7	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
10	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
12	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
13	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6591240	PTPRCAP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67069200-67073600	Weak transcription	GM12878-XiMat	blood
2	chr11:67069200-67079200	Weak transcription	K562	blood
3	chr11:67070200-67084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:67070400-67083800	Weak transcription	Dnd41	blood
5	chr11:67071600-67072800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:67071800-67084400	Weak transcription	Fetal Kidney	kidney
7	chr11:67072000-67073400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:67072000-67075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:67072000-67080000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr11:67072000-67084000	Weak transcription	HUVEC	blood vessel
11	chr11:67072200-67072800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:67072200-67072800	Enhancers	Fetal Stomach	stomach
13	chr11:67072200-67072800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr11:67072200-67073200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:67072200-67073200	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:67072200-67073200	Enhancers	Fetal Muscle Leg	muscle
17	chr11:67072200-67073200	Enhancers	Ovary	ovary
18	chr11:67072200-67073200	Enhancers	Right Ventricle	heart
19	chr11:67072200-67073400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:67072200-67075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:67072200-67076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:67072200-67079800	Weak transcription	Primary T cells from cord blood	blood
23	chr11:67072200-67084000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:67072200-67084000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:67072200-67084400	Weak transcription	Fetal Brain Female	brain
26	chr11:67072400-67073200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:67072400-67073200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:67072400-67073200	Enhancers	Fetal Intestine Large	intestine
29	chr11:67072400-67073200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:67072400-67073200	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:67072400-67073200	Genic enhancers	Spleen	Spleen
32	chr11:67072400-67073200	Enhancers	HepG2	liver
33	chr11:67072400-67073400	Enhancers	Placenta	Placenta
34	chr11:67072400-67073400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:67072400-67074000	Weak transcription	NHEK	skin
36	chr11:67072400-67074200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr11:67072400-67074200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:67072400-67074400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:67072400-67074400	Weak transcription	Liver	Liver
40	chr11:67072400-67074400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:67072400-67074400	Weak transcription	NHLF	lung
42	chr11:67072400-67074600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:67072400-67074600	Weak transcription	Fetal Lung	lung
44	chr11:67072400-67074600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:67072400-67074800	Weak transcription	Brain Angular Gyrus	brain
46	chr11:67072400-67075000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:67072400-67075400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:67072400-67075800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:67072400-67075800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:67072400-67076000	Weak transcription	Brain Anterior Caudate	brain

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