Variant report

Variant	rs983112
Chromosome Location	chr11:101988580-101988581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101981472..101985692-chr11:101986825..101990078,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137693	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10750631	0.85[EUR][1000 genomes]
rs10791563	0.89[EUR][1000 genomes]
rs10895255	0.90[EUR][1000 genomes]
rs10895256	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11225132	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365331	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426395	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1426398	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549496	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1820453	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2033081	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2033083	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752685	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3824930	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61918360	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61918361	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7105334	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7106388	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7128788	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7931899	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7932563	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9787758	0.95[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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101982800-101989200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:101983400-101998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:101983600-101989200	Weak transcription	Esophagus	oesophagus
4	chr11:101983600-101990800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:101983600-101990800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:101983600-101990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:101983600-101990800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:101983600-101991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:101983600-101998000	Weak transcription	Right Ventricle	heart
10	chr11:101983600-101998200	Weak transcription	Colonic Mucosa	Colon
11	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
12	chr11:101984000-101991600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:101984400-101988600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:101984400-101991600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr11:101984800-101988800	Genic enhancers	HSMM	muscle
16	chr11:101984800-101991600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:101985000-101988800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:101985000-101989200	Weak transcription	Fetal Stomach	stomach
19	chr11:101985000-101991400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:101985200-101988600	Enhancers	Fetal Intestine Small	intestine
21	chr11:101985200-101989200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:101985200-101989200	Weak transcription	Lung	lung
23	chr11:101985200-101989800	Weak transcription	Fetal Brain Male	brain
24	chr11:101985200-101998000	Weak transcription	Gastric	stomach
25	chr11:101985200-102009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:101985600-101991200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:101985800-101990800	Enhancers	Fetal Intestine Large	intestine
28	chr11:101986000-101991000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:101986000-101991600	Enhancers	Colon Smooth Muscle	Colon
30	chr11:101986200-101991600	Enhancers	Stomach Mucosa	stomach
31	chr11:101986400-101989400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr11:101986400-101989600	Enhancers	Fetal Kidney	kidney
33	chr11:101986400-101989600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:101986600-101989800	Weak transcription	Aorta	Aorta
35	chr11:101986600-101990800	Flanking Active TSS	A549	lung
36	chr11:101986800-101989200	Weak transcription	Left Ventricle	heart
37	chr11:101986800-101989600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:101986800-101989600	Weak transcription	Fetal Brain Female	brain
39	chr11:101986800-101991000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:101986800-101991800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr11:101986800-101992000	Weak transcription	Psoas Muscle	Psoas
42	chr11:101986800-101992200	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:101986800-101995400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:101986800-101995600	Weak transcription	Right Atrium	heart
45	chr11:101987000-101989000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:101987000-101989600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:101987000-101991400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:101987200-101988800	Enhancers	HepG2	liver
49	chr11:101987200-101989000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:101987200-101989000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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