Variant report

Variant	rs7126188
Chromosome Location	chr11:93277266-93277267
allele	C/T
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	RAD21	chr11:93275299-93277325	SK-N-SH	brain:	n/a	chr11:93276580-93276593
2	WRNIP1	chr11:93276582-93277421	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
2	chr11:93276670..93279805-chr11:93289602..93292268,3	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000182919	Chromatin interaction
ENSG00000240202	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11020413	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12223863	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12416843	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12417178	0.87[CEU][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2399676	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2399681	0.80[JPT][hapmap]
rs2399683	0.80[JPT][hapmap]
rs2399685	0.80[JPT][hapmap]
rs2895470	0.96[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2895472	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4753468	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4753471	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7118364	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7125151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128507	0.96[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7126188	C11orf75	cis	lymphoblastoid	seeQTL
rs7126188	MED17	cis	cerebellum	SCAN
rs7126188	SCARNA9	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93275600-93277400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:93275800-93277400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:93276600-93277400	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr11:93276600-93277400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr11:93276600-93277400	Flanking Active TSS	Dnd41	blood
6	chr11:93276800-93277400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:93276800-93277400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:93276800-93277400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr11:93276800-93277400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:93276800-93277400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:93276800-93277400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:93276800-93277400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:93276800-93277400	Flanking Active TSS	Fetal Brain Female	brain
14	chr11:93276800-93277400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:93276800-93277400	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr11:93276800-93277600	Flanking Active TSS	Hela-S3	cervix
17	chr11:93277000-93277400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:93277000-93277400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:93277000-93277400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:93277000-93277400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:93277000-93277400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:93277000-93277400	Enhancers	Primary B cells from peripheral blood	blood
23	chr11:93277000-93277400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:93277000-93277400	Enhancers	Brain Germinal Matrix	brain
25	chr11:93277000-93277400	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr11:93277000-93277400	Enhancers	Fetal Lung	lung
27	chr11:93277000-93277400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:93277000-93277800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:93277000-93277800	Enhancers	Thymus	Thymus
30	chr11:93277000-93278000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:93277000-93282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:93277200-93277400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:93277200-93277400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:93277200-93277400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:93277200-93277400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:93277200-93277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:93277200-93277400	Enhancers	Adipose Nuclei	Adipose
38	chr11:93277200-93277400	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:93277200-93277400	Enhancers	Brain Substantia Nigra	brain
40	chr11:93277200-93277400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr11:93277200-93277400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr11:93277200-93277400	Enhancers	Fetal Heart	heart
43	chr11:93277200-93277400	Active TSS	Fetal Intestine Small	intestine
44	chr11:93277200-93277400	Enhancers	Fetal Muscle Leg	muscle
45	chr11:93277200-93277400	Enhancers	Placenta	Placenta
46	chr11:93277200-93277400	Active TSS	Stomach Smooth Muscle	stomach
47	chr11:93277200-93277400	Flanking Active TSS	A549	lung
48	chr11:93277200-93277400	Bivalent Enhancer	HepG2	liver
49	chr11:93277200-93277400	Enhancers	HMEC	breast
50	chr11:93277200-93277400	Active TSS	NHDF-Ad	bronchial

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