Variant report

Variant	rs60328033
Chromosome Location	chr18:12372776-12372777
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12360642..12363502-chr18:12370085..12373310,4	K562	blood:
2	chr18:12274350..12275873-chr18:12371406..12373710,2	K562	blood:
3	chr18:12354655..12356676-chr18:12372302..12374649,2	K562	blood:
4	chr18:12372255..12374717-chr18:12702153..12705410,3	K562	blood:
5	chr18:12330814..12333752-chr18:12371346..12373010,2	MCF-7	breast:
6	chr18:12369983..12374854-chr18:12375235..12379102,8	MCF-7	breast:
7	chr18:12342599..12345334-chr18:12370833..12373384,2	K562	blood:
8	chr18:12283750..12286656-chr18:12370266..12373091,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128789	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12965349	1.00[AMR][1000 genomes]
rs1785338	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4797676	1.00[AMR][1000 genomes]
rs61460703	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6505747	1.00[AMR][1000 genomes]
rs6505752	1.00[AMR][1000 genomes]
rs7505123	1.00[AMR][1000 genomes]
rs7506586	1.00[AMR][1000 genomes]
rs8098572	1.00[AMR][1000 genomes]
rs9284396	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12337000-12374200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:12359200-12376000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12359800-12375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:12360000-12373400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:12367600-12373200	Weak transcription	HSMM	muscle
6	chr18:12367600-12376000	Weak transcription	Fetal Kidney	kidney
7	chr18:12367800-12372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:12367800-12373400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:12367800-12374400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr18:12367800-12375400	Weak transcription	HMEC	breast
11	chr18:12368600-12373000	Weak transcription	HUVEC	blood vessel
12	chr18:12368800-12374400	Weak transcription	Fetal Brain Male	brain
13	chr18:12368800-12375400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:12369400-12372800	Weak transcription	Fetal Brain Female	brain
15	chr18:12369400-12372800	Weak transcription	HepG2	liver
16	chr18:12369400-12373000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:12369400-12373000	Weak transcription	Brain Germinal Matrix	brain
18	chr18:12369400-12373200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:12369400-12373200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:12369400-12373200	Weak transcription	Aorta	Aorta
21	chr18:12369400-12373600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:12369400-12373600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:12369400-12373600	Weak transcription	Lung	lung
24	chr18:12369400-12373600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:12369400-12374000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr18:12369400-12374200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:12369400-12374600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:12369400-12374600	Weak transcription	Adipose Nuclei	Adipose
29	chr18:12369400-12374600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr18:12369400-12375000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr18:12369400-12375000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr18:12369400-12375400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr18:12369400-12375600	Weak transcription	A549	lung
34	chr18:12369400-12375800	Weak transcription	NHLF	lung
35	chr18:12369400-12376000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr18:12369600-12373200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:12369600-12373200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:12369600-12373400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:12369600-12373600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:12369600-12373600	Weak transcription	Gastric	stomach
41	chr18:12369600-12374600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:12369600-12374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:12369600-12375000	Weak transcription	Placenta	Placenta
44	chr18:12369600-12375000	Weak transcription	Spleen	Spleen
45	chr18:12369600-12375200	Weak transcription	Primary B cells from cord blood	blood
46	chr18:12369600-12375400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:12369600-12375400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:12369600-12375400	Weak transcription	Esophagus	oesophagus
49	chr18:12369800-12373400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr18:12369800-12373800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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