Variant report

Variant	rs608149
Chromosome Location	chr11:100850073-100850074
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	chr11:100849467..100854913-chr11:100993227..101000778,12	MCF-7	breast:
2	chr11:100849094..100850611-chr11:100903431..100905166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs533571	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs540089	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569270	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs581468	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590616	0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs654593	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs671333	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100810000-100852200	Weak transcription	Small Intestine	intestine
2	chr11:100830600-100858200	Weak transcription	Colonic Mucosa	Colon
3	chr11:100834400-100851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:100841600-100852200	Weak transcription	Spleen	Spleen
5	chr11:100841800-100852200	Weak transcription	Esophagus	oesophagus
6	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
7	chr11:100844400-100850600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:100844600-100850400	Strong transcription	Liver	Liver
9	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:100845800-100850800	Weak transcription	K562	blood
11	chr11:100846200-100857400	Weak transcription	Fetal Brain Male	brain
12	chr11:100846400-100855200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:100846800-100851200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:100847000-100855200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:100847200-100850600	Weak transcription	Aorta	Aorta
16	chr11:100847800-100850200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr11:100847800-100852200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:100847800-100854400	Weak transcription	Right Ventricle	heart
19	chr11:100848000-100851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:100848000-100861800	Weak transcription	Fetal Heart	heart
21	chr11:100848200-100850800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:100848200-100851600	Weak transcription	Ovary	ovary
23	chr11:100848200-100856200	Weak transcription	Fetal Intestine Small	intestine
24	chr11:100848200-100856400	Weak transcription	Fetal Stomach	stomach
25	chr11:100848200-100857400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:100848200-100858600	Weak transcription	Gastric	stomach
27	chr11:100848200-100859600	Weak transcription	Stomach Mucosa	stomach
28	chr11:100848200-100861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
30	chr11:100848400-100851800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:100848400-100852400	Weak transcription	Primary T cells from cord blood	blood
32	chr11:100848400-100859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:100848400-100859800	Weak transcription	Fetal Kidney	kidney
34	chr11:100848400-100860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:100848400-100863200	Weak transcription	Fetal Intestine Large	intestine
36	chr11:100848400-100864600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:100848600-100852800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:100848600-100859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:100848600-100863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:100848600-100865200	Weak transcription	Left Ventricle	heart
41	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:100848800-100855000	Weak transcription	Primary B cells from cord blood	blood
43	chr11:100848800-100857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:100848800-100858000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:100848800-100860000	Weak transcription	NH-A	brain
46	chr11:100848800-100864800	Weak transcription	HSMM	muscle
47	chr11:100849000-100850600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:100849000-100852200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:100849000-100862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:100849000-100863000	Weak transcription	Stomach Smooth Muscle	stomach

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