Variant report

Variant	rs9961298
Chromosome Location	chr18:12279656-12279657
allele	C/T
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12274281..12279698-chr18:12305807..12311128,5	K562	blood:
2	chr18:12279096..12281383-chr18:12306708..12308820,2	MCF-7	breast:
3	chr18:12274162..12275837-chr18:12279387..12281024,2	MCF-7	breast:
4	chr18:12271533..12274633-chr18:12277025..12281374,4	K562	blood:
5	chr18:12278124..12280961-chr18:12313263..12315293,2	K562	blood:
6	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
ENSG00000176014	Chromatin interaction
ENSG00000267165	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs9946027	1.00[AMR][1000 genomes]
rs9950999	1.00[AFR][1000 genomes]
rs9961477	1.00[AFR][1000 genomes]
rs9962240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9962634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9964600	1.00[AMR][1000 genomes]
rs9964653	1.00[AMR][1000 genomes]
rs9965144	1.00[AFR][1000 genomes];1.00[AMR][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:81 , 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	chr18:12277400-12279800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr18:12278000-12279800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12278000-12280200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:12278200-12279800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:12278200-12279800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:12278200-12280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:12278200-12280000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:12278200-12280000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:12278200-12280000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:12278200-12280000	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr18:12278200-12280000	Enhancers	Stomach Mucosa	stomach
13	chr18:12278200-12280000	Flanking Active TSS	Osteobl	bone
14	chr18:12278200-12280200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:12278200-12280400	Enhancers	Lung	lung
16	chr18:12278200-12280400	Flanking Active TSS	HSMM	muscle
17	chr18:12278200-12284200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr18:12278400-12279800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:12278400-12279800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:12278400-12279800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr18:12278400-12279800	Flanking Active TSS	Fetal Stomach	stomach
22	chr18:12278400-12279800	Enhancers	Hela-S3	cervix
23	chr18:12278400-12280000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr18:12278400-12280000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:12278400-12280000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr18:12278400-12280000	Active TSS	Colonic Mucosa	Colon
27	chr18:12278400-12280000	Flanking Active TSS	HUVEC	blood vessel
28	chr18:12278400-12280000	Flanking Active TSS	NH-A	brain
29	chr18:12278400-12280400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr18:12278400-12280400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:12278400-12280400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr18:12278600-12279800	Flanking Active TSS	Fetal Lung	lung
33	chr18:12278600-12280400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:12278600-12280400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr18:12278600-12280400	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr18:12278800-12279800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:12278800-12279800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr18:12278800-12279800	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr18:12278800-12279800	Active TSS	Fetal Intestine Small	intestine
40	chr18:12278800-12279800	Flanking Active TSS	HMEC	breast
41	chr18:12278800-12280200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:12278800-12280200	Active TSS	Aorta	Aorta
43	chr18:12278800-12281600	Weak transcription	NHEK	skin
44	chr18:12279000-12279800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr18:12279000-12279800	Flanking Active TSS	HepG2	liver
46	chr18:12279000-12280000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr18:12279200-12279800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr18:12279200-12279800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr18:12279200-12279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:12279200-12279800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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