Variant report

Variant	rs680510
Chromosome Location	chr18:11997904-11997905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:11993400-11998536	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:

Variant related genes	Relation type
IMPA2	TF binding region
ENSG00000266955	TF binding region
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs586585	0.93[AFR][1000 genomes]
rs633140	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7242991	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv528699	chr18:11989416-12029857	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982400-12005000	Weak transcription	Aorta	Aorta
2	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
3	chr18:11991000-11999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr18:11993200-11998000	Enhancers	Stomach Mucosa	stomach
5	chr18:11993200-11998400	Enhancers	Fetal Muscle Trunk	muscle
6	chr18:11993400-11999400	Enhancers	Fetal Muscle Leg	muscle
7	chr18:11993400-12016000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:11995000-11999200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:11995400-11998400	Enhancers	Brain Hippocampus Middle	brain
10	chr18:11995400-11999200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:11995400-12001800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:11995600-11998200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr18:11995600-11998600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:11995600-11998800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:11995600-11999000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:11995600-11999000	Weak transcription	Fetal Brain Female	brain
17	chr18:11995600-11999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:11995600-11999400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:11995600-12014400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr18:11995800-11999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr18:11995800-11999400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr18:11996000-11998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:11996000-11998000	Weak transcription	Fetal Lung	lung
24	chr18:11996000-11998000	Weak transcription	NHDF-Ad	bronchial
25	chr18:11996000-11998200	Weak transcription	Brain Angular Gyrus	brain
26	chr18:11996000-11998600	Weak transcription	HSMM	muscle
27	chr18:11996000-11999200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:11996000-11999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:11996000-11999200	Weak transcription	Fetal Intestine Large	intestine
30	chr18:11996000-11999200	Enhancers	HepG2	liver
31	chr18:11996000-12001400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:11996000-12001400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr18:11996000-12004000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:11996000-12004800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:11996000-12004800	Weak transcription	HMEC	breast
36	chr18:11996000-12005600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:11996200-11998000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:11996200-11998400	Weak transcription	Fetal Kidney	kidney
39	chr18:11996200-11998400	Enhancers	Lung	lung
40	chr18:11996200-11999000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:11996200-11999000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:11996200-11999000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:11996200-11999000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:11996200-11999000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:11996200-11999200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:11996200-11999200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:11996200-11999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr18:11996200-11999600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:11996200-12004800	Weak transcription	NHEK	skin
50	chr18:11996200-12005200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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