Variant report

Variant	rs56173210
Chromosome Location	chr18:12280019-12280020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12279096..12281383-chr18:12306708..12308820,2	MCF-7	breast:
2	chr18:12274162..12275837-chr18:12279387..12281024,2	MCF-7	breast:
3	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
4	chr18:12278124..12280961-chr18:12313263..12315293,2	K562	blood:
5	chr18:11850419..11853228-chr18:12278563..12280532,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIDEA-4	chr18:12279426-12282738	NONHSAT058361

No data

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000176014	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58511967	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6416992	0.80[EUR][1000 genomes]
rs7229921	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv870342	chr18:12270808-12295798	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12277000-12281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr18:12278000-12280200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:12278200-12280200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:12278200-12280400	Enhancers	Lung	lung
5	chr18:12278200-12280400	Flanking Active TSS	HSMM	muscle
6	chr18:12278200-12284200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr18:12278400-12280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:12278400-12280400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:12278400-12280400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr18:12278600-12280400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:12278600-12280400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr18:12278600-12280400	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr18:12278800-12280200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:12278800-12280200	Active TSS	Aorta	Aorta
15	chr18:12278800-12281600	Weak transcription	NHEK	skin
16	chr18:12279200-12281000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:12279200-12283000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:12279400-12280200	Flanking Active TSS	Left Ventricle	heart
19	chr18:12279400-12280600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr18:12279400-12280600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:12279600-12280200	Active TSS	Right Ventricle	heart
22	chr18:12279600-12280200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr18:12279600-12280400	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr18:12279600-12280600	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr18:12279600-12284200	Enhancers	Placenta	Placenta
26	chr18:12279600-12287600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:12279800-12280400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:12279800-12280400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr18:12279800-12280400	Enhancers	Adipose Nuclei	Adipose
30	chr18:12279800-12280400	Enhancers	Brain Anterior Caudate	brain
31	chr18:12279800-12280400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr18:12279800-12280400	Enhancers	HMEC	breast
33	chr18:12279800-12280800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr18:12279800-12280800	Flanking Active TSS	Fetal Heart	heart
35	chr18:12279800-12280800	Enhancers	Fetal Lung	lung
36	chr18:12279800-12281000	Enhancers	Fetal Stomach	stomach
37	chr18:12279800-12281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:12279800-12281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:12279800-12281800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:12279800-12282200	Weak transcription	Hela-S3	cervix
41	chr18:12279800-12282400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:12279800-12282400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:12279800-12283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr18:12279800-12283400	Enhancers	NHLF	lung
45	chr18:12279800-12284200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr18:12280000-12280200	Active TSS	Fetal Muscle Trunk	muscle
47	chr18:12280000-12280200	Active TSS	HSMMtube	muscle
48	chr18:12280000-12280200	Enhancers	Osteobl	bone
49	chr18:12280000-12280400	Enhancers	HUVEC	blood vessel
50	chr18:12280000-12280600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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