Variant report

Variant	rs7950893
Chromosome Location	chr11:93453436-93453437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93451779..93453500-chr11:93464766..93467627,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221170	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000207304	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160552	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10765620	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10831089	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10831091	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10831093	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939565	0.87[EUR][1000 genomes]
rs1944104	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4146891	0.89[EUR][1000 genomes]
rs61229806	0.88[EUR][1000 genomes]
rs6483261	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6483262	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105804	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119996	0.91[EUR][1000 genomes]
rs7939460	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv3382440	chr11:93453185-93453705	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7950893	TAF1D,SNORA1,SNORA18,SNORA25,SNORA32,SNORA40,SNORA8,SNORD5,SNORD6	cis	brain	BrainEAC

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
2	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:93440200-93460000	Weak transcription	NHLF	lung
5	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
6	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
7	chr11:93442200-93454200	Weak transcription	NH-A	brain
8	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
9	chr11:93443600-93454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:93443600-93460200	Weak transcription	NHDF-Ad	bronchial
11	chr11:93444000-93454400	Weak transcription	A549	lung
12	chr11:93444000-93454400	Weak transcription	HMEC	breast
13	chr11:93444000-93455200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:93444200-93454400	Weak transcription	Fetal Heart	heart
16	chr11:93444200-93462200	Weak transcription	Psoas Muscle	Psoas
17	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:93445400-93458600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:93445800-93454400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:93446200-93454800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:93447200-93459800	Strong transcription	Fetal Stomach	stomach
23	chr11:93447600-93457800	Strong transcription	Liver	Liver
24	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:93448000-93460000	Strong transcription	Fetal Intestine Small	intestine
26	chr11:93448000-93465600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:93448600-93461400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:93448600-93465400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:93449000-93462200	Weak transcription	Small Intestine	intestine
30	chr11:93449200-93462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
32	chr11:93449400-93454400	Weak transcription	Fetal Kidney	kidney
33	chr11:93449400-93455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:93449400-93455600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:93449400-93458800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:93449400-93461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:93449400-93463800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:93449400-93465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:93449600-93455000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:93449600-93457400	Weak transcription	Fetal Brain Female	brain
41	chr11:93449600-93462200	Weak transcription	Spleen	Spleen
42	chr11:93449600-93462400	Weak transcription	Right Ventricle	heart
43	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
44	chr11:93450000-93454400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:93450000-93454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:93450000-93455200	Weak transcription	Left Ventricle	heart
47	chr11:93450000-93458800	Weak transcription	Lung	lung
48	chr11:93450000-93459400	Weak transcription	Aorta	Aorta
49	chr11:93450000-93462200	Weak transcription	Pancreas	Pancrea
50	chr11:93450200-93454600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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