Variant report

Variant	rs9949927
Chromosome Location	chr18:6784692-6784693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11660929	0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6506441	0.87[JPT][hapmap]
rs7232852	0.94[ASN][1000 genomes]
rs7244520	0.80[EUR][1000 genomes]
rs8084111	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8099536	0.82[JPT][hapmap]

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:43 , 50 per page) page: 1

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	chr18:6781000-6786600	Enhancers	Placenta	Placenta
4	chr18:6781800-6786200	Enhancers	HSMM	muscle
5	chr18:6781800-6786400	Weak transcription	Lung	lung
6	chr18:6782200-6785400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:6782200-6785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:6782200-6788000	Weak transcription	Fetal Intestine Small	intestine
9	chr18:6782200-6789000	Weak transcription	Pancreas	Pancrea
10	chr18:6782200-6790400	Weak transcription	Adipose Nuclei	Adipose
11	chr18:6782200-6793800	Weak transcription	Fetal Kidney	kidney
12	chr18:6782400-6785200	Weak transcription	NH-A	brain
13	chr18:6782400-6785400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:6782400-6785400	Weak transcription	Osteobl	bone
15	chr18:6783000-6785800	Enhancers	Ovary	ovary
16	chr18:6783200-6785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:6783400-6786000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr18:6783600-6785000	Enhancers	Psoas Muscle	Psoas
19	chr18:6783600-6785800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:6783600-6785800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:6783800-6785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr18:6783800-6785200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr18:6783800-6785200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr18:6783800-6785800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr18:6784000-6784800	Active TSS	Colon Smooth Muscle	Colon
26	chr18:6784000-6785400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:6784000-6785600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr18:6784000-6785800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:6784000-6785800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:6784200-6784800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:6784200-6785400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:6784200-6785800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr18:6784200-6786200	Enhancers	HSMMtube	muscle
34	chr18:6784200-6792600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr18:6784400-6785600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:6784400-6786000	Enhancers	Fetal Heart	heart
37	chr18:6784400-6786200	Enhancers	Fetal Lung	lung
38	chr18:6784400-6786400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr18:6784400-6788600	Weak transcription	Fetal Muscle Leg	muscle
40	chr18:6784600-6785800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr18:6784600-6787800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:6784600-6788000	Weak transcription	Fetal Stomach	stomach
43	chr18:6784600-6795800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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