Variant report

Variant	rs60631733
Chromosome Location	chr11:8889698-8889699
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	chr11:8854026..8855722-chr11:8888927..8890740,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11042113	1.00[EUR][1000 genomes]
rs16906027	1.00[EUR][1000 genomes]
rs2116513	1.00[EUR][1000 genomes]
rs4061641	1.00[EUR][1000 genomes]
rs56947653	1.00[EUR][1000 genomes]
rs56980703	1.00[AMR][1000 genomes]
rs57375414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58094352	1.00[EUR][1000 genomes]
rs58735631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314648	0.86[AFR][1000 genomes]
rs59619952	1.00[AMR][1000 genomes]
rs60719227	1.00[EUR][1000 genomes]
rs61505319	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108310	1.00[EUR][1000 genomes]
rs7129159	1.00[AMR][1000 genomes]
rs73408102	1.00[AMR][1000 genomes]
rs73410050	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3402630	chr11:8887304-8893757	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3325077	chr11:8887314-8893755	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:8878200-8891800	Weak transcription	Psoas Muscle	Psoas
3	chr11:8880200-8892000	Weak transcription	Gastric	stomach
4	chr11:8884400-8891800	Weak transcription	Left Ventricle	heart
5	chr11:8885600-8891400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:8885600-8891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:8885800-8889800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:8885800-8889800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:8885800-8891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:8885800-8891400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:8885800-8891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:8885800-8891800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:8887000-8890200	Enhancers	Fetal Lung	lung
14	chr11:8887200-8891400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:8887200-8891600	Weak transcription	Adipose Nuclei	Adipose
16	chr11:8887200-8891800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:8887200-8892000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:8887400-8891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:8888000-8889800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:8888000-8890200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:8888000-8890400	Enhancers	NH-A	brain
22	chr11:8888000-8890600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:8888000-8890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:8888000-8891600	Enhancers	Placenta	Placenta
25	chr11:8888000-8891600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr11:8888200-8890000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:8888200-8890200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:8888200-8890400	Enhancers	NHEK	skin
29	chr11:8888200-8891400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:8888200-8891400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:8888200-8891600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:8888400-8890600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:8888400-8891400	Enhancers	Fetal Stomach	stomach
34	chr11:8888400-8891800	Weak transcription	Brain Angular Gyrus	brain
35	chr11:8888600-8889800	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:8888600-8891400	Enhancers	Fetal Muscle Leg	muscle
37	chr11:8888600-8891800	Weak transcription	Stomach Mucosa	stomach
38	chr11:8888800-8889800	Weak transcription	A549	lung
39	chr11:8888800-8891400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:8888800-8891600	Weak transcription	Right Atrium	heart
41	chr11:8888800-8891800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:8888800-8891800	Weak transcription	Colonic Mucosa	Colon
43	chr11:8889000-8891600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:8889000-8891600	Weak transcription	HUVEC	blood vessel
45	chr11:8889200-8889800	Enhancers	Lung	lung
46	chr11:8889400-8889800	Enhancers	HSMMtube	muscle
47	chr11:8889400-8890200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:8889400-8890200	Enhancers	HMEC	breast
49	chr11:8889400-8890200	Enhancers	HSMM	muscle
50	chr11:8889400-8890400	Enhancers	Colon Smooth Muscle	Colon

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