Variant report

Variant	rs1144128
Chromosome Location	chr11:100642694-100642695
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	chr11:100556918..100559342-chr11:100641280..100643769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248027	Chromatin interaction
ENSG00000165895	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs492237	0.83[ASW][hapmap];0.91[YRI][hapmap]
rs598369	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625761	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs693080	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7945463	0.91[YRI][hapmap]

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	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
2	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
3	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:100629200-100642800	Weak transcription	Liver	Liver
5	chr11:100631800-100645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:100632200-100645200	Weak transcription	Colonic Mucosa	Colon
7	chr11:100632200-100647200	Weak transcription	HSMM	muscle
8	chr11:100632800-100645000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:100632800-100645000	Weak transcription	Gastric	stomach
10	chr11:100633000-100647000	Weak transcription	NHLF	lung
11	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
12	chr11:100633600-100647400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:100635200-100647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:100635800-100645600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:100636600-100643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:100637000-100644400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:100639800-100643800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:100639800-100645600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:100639800-100647400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:100640000-100648600	Weak transcription	Small Intestine	intestine
22	chr11:100640000-100649600	Weak transcription	Fetal Kidney	kidney
23	chr11:100640000-100655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:100640200-100642800	Weak transcription	Fetal Intestine Small	intestine
25	chr11:100640200-100644200	Weak transcription	Fetal Heart	heart
26	chr11:100640200-100644400	Weak transcription	Fetal Lung	lung
27	chr11:100640200-100644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:100640200-100645000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:100640200-100645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:100640200-100645000	Weak transcription	Fetal Stomach	stomach
31	chr11:100640200-100647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:100640200-100647200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:100640200-100648600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:100640200-100651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:100640400-100642800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:100640400-100642800	Weak transcription	HSMMtube	muscle
37	chr11:100640400-100645200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:100640400-100646600	Weak transcription	Dnd41	blood
39	chr11:100640400-100647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:100640400-100648800	Weak transcription	Osteobl	bone
41	chr11:100640400-100651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:100640600-100642800	Weak transcription	Fetal Intestine Large	intestine
43	chr11:100640800-100642800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:100640800-100643000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:100640800-100644000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:100640800-100645400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:100640800-100645800	Weak transcription	Ovary	ovary
48	chr11:100640800-100655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:100640800-100655200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:100640800-100655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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