Variant report

Variant	rs16952206
Chromosome Location	chr18:7606303-7606304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7603792..7606517-chr18:7606532..7608686,2	K562	blood:
2	chr18:7601321..7603533-chr18:7605983..7608690,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11872624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952164	1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs16952198	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952201	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952203	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091758	0.81[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16952206	RIPPLY2	trans	brain	seeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7586400-7607600	Weak transcription	Aorta	Aorta
2	chr18:7600200-7607400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:7600400-7607200	Weak transcription	Fetal Brain Female	brain
4	chr18:7600800-7607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:7600800-7607800	Weak transcription	Adipose Nuclei	Adipose
6	chr18:7601000-7607400	Weak transcription	Placenta	Placenta
7	chr18:7601000-7608600	Weak transcription	Fetal Stomach	stomach
8	chr18:7601600-7607200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:7602000-7608000	Weak transcription	NHEK	skin
10	chr18:7602200-7607400	Weak transcription	HSMM	muscle
11	chr18:7602200-7607400	Weak transcription	NH-A	brain
12	chr18:7602200-7607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:7602200-7607800	Weak transcription	Spleen	Spleen
14	chr18:7602600-7607400	Weak transcription	HMEC	breast
15	chr18:7603200-7607400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr18:7603200-7609400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:7603400-7606400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:7603400-7607000	Enhancers	Fetal Heart	heart
19	chr18:7603400-7607200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr18:7603400-7610000	Enhancers	Fetal Muscle Leg	muscle
21	chr18:7603800-7606600	Weak transcription	HepG2	liver
22	chr18:7604000-7607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:7604200-7607400	Weak transcription	A549	lung
24	chr18:7604400-7606600	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:7604400-7607000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:7604400-7607400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:7604400-7607600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:7604400-7607600	Weak transcription	Fetal Lung	lung
29	chr18:7604400-7608000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:7604600-7607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr18:7604600-7608600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:7604800-7607600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr18:7604800-7607800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:7604800-7607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr18:7605000-7607800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:7605400-7606400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:7605400-7606600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr18:7605400-7606800	Enhancers	Right Ventricle	heart
39	chr18:7605400-7610000	Enhancers	Left Ventricle	heart
40	chr18:7605400-7610200	Enhancers	Psoas Muscle	Psoas
41	chr18:7605600-7606400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:7605600-7606400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:7605600-7606400	Enhancers	Lung	lung
44	chr18:7605600-7606400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr18:7605600-7607000	Enhancers	Ovary	ovary
46	chr18:7605800-7606400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr18:7605800-7606400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:7605800-7606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:7605800-7606400	Enhancers	Fetal Muscle Trunk	muscle
50	chr18:7605800-7606400	Enhancers	Gastric	stomach

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