Variant report

Variant	rs11096678
Chromosome Location	chr2:20792173-20792174
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
2	chr2:20790147..20792298-chr2:20794346..20796797,2	K562	blood:
3	chr2:20783982..20787771-chr2:20790367..20794656,9	K562	blood:
4	chr2:20792169..20793794-chr2:20803902..20806488,2	K562	blood:
5	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233416	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000269976	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10190590	1.00[CHB][hapmap]
rs1109689	1.00[CHB][hapmap]
rs4666435	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv581167	chr2:20791125-20827846	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785800-20793000	Weak transcription	Gastric	stomach
4	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
7	chr2:20786000-20792200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20786000-20792800	Weak transcription	Colonic Mucosa	Colon
9	chr2:20786000-20793000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
13	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
15	chr2:20787400-20792800	Weak transcription	Fetal Kidney	kidney
16	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:20789000-20794000	Enhancers	NHEK	skin
20	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:20789200-20797000	Enhancers	Spleen	Spleen
22	chr2:20789200-20800400	Enhancers	Placenta	Placenta
23	chr2:20789400-20795400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:20789600-20792800	Weak transcription	HUVEC	blood vessel
25	chr2:20790000-20792800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:20790200-20797800	Enhancers	Fetal Intestine Large	intestine
27	chr2:20790400-20792400	Weak transcription	A549	lung
28	chr2:20790400-20793600	Enhancers	Fetal Intestine Small	intestine
29	chr2:20790600-20792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:20790600-20792600	Weak transcription	Osteobl	bone
31	chr2:20790600-20792800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:20790800-20792200	Weak transcription	NH-A	brain
33	chr2:20790800-20792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:20790800-20792800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:20790800-20801200	Enhancers	Adipose Nuclei	Adipose
36	chr2:20791000-20792200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:20791000-20792200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:20791000-20792200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:20791000-20792200	Weak transcription	HMEC	breast
40	chr2:20791000-20792400	Weak transcription	Lung	lung
41	chr2:20791000-20792800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:20791000-20794200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:20791200-20792200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:20791200-20792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:20791200-20792600	Weak transcription	Stomach Mucosa	stomach
46	chr2:20791200-20793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:20791200-20793000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:20791200-20793800	Weak transcription	Brain Angular Gyrus	brain
49	chr2:20791200-20794800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:20791200-20794800	Weak transcription	Brain Substantia Nigra	brain

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