Variant report

Variant	rs12605379
Chromosome Location	chr18:6781695-6781696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:6780742..6782495-chr18:6812998..6814877,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11660929	0.95[JPT][hapmap]
rs58260708	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58861953	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6506440	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6506441	0.82[JPT][hapmap]
rs73382734	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73941107	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8084111	0.90[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs8099536	0.81[TSI][hapmap]
rs9947100	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9949927	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs9950848	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9965344	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv34611	chr18:6741970-6838290	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv576397	chr18:6758921-7036683	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	esv2758469	chr18:6762909-6943645	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	esv2758711	chr18:6762909-6943645	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6778200-6785600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr18:6779600-6785800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:6780000-6782600	Enhancers	Fetal Muscle Leg	muscle
4	chr18:6780000-6782800	Enhancers	Fetal Muscle Trunk	muscle
5	chr18:6780200-6783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:6780800-6782000	Enhancers	Psoas Muscle	Psoas
7	chr18:6781000-6781800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:6781000-6781800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:6781000-6781800	Enhancers	Fetal Intestine Large	intestine
10	chr18:6781000-6782000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:6781000-6782200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:6781000-6782200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:6781000-6782200	Enhancers	Fetal Intestine Small	intestine
14	chr18:6781000-6782200	Enhancers	Fetal Kidney	kidney
15	chr18:6781000-6782200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr18:6781000-6782200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr18:6781000-6782400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:6781000-6782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:6781000-6782400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:6781000-6782400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr18:6781000-6782400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:6781000-6782400	Enhancers	Fetal Heart	heart
23	chr18:6781000-6782400	Enhancers	Fetal Stomach	stomach
24	chr18:6781000-6782400	Enhancers	HUVEC	blood vessel
25	chr18:6781000-6782400	Enhancers	NHDF-Ad	bronchial
26	chr18:6781000-6783200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr18:6781000-6786600	Enhancers	Placenta	Placenta
28	chr18:6781200-6781800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr18:6781200-6781800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr18:6781200-6781800	Enhancers	Esophagus	oesophagus
31	chr18:6781200-6781800	Enhancers	Lung	lung
32	chr18:6781200-6782000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:6781200-6782200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr18:6781200-6782200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:6781200-6782200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr18:6781200-6782200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr18:6781200-6782200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:6781200-6782200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:6781200-6782200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:6781200-6782200	Enhancers	Left Ventricle	heart
41	chr18:6781200-6782200	Enhancers	Pancreas	Pancrea
42	chr18:6781200-6782200	Enhancers	Right Atrium	heart
43	chr18:6781200-6782200	Enhancers	Right Ventricle	heart
44	chr18:6781200-6782400	Enhancers	NH-A	brain
45	chr18:6781200-6782400	Enhancers	Osteobl	bone
46	chr18:6781200-6783000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:6781200-6784000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:6781200-6784600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:6781400-6781800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr18:6781400-6781800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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