Variant report

Variant	rs2919988
Chromosome Location	chr18:28881180-28881181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11664218	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11664391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11665531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16961644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16961651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16961653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17658536	0.83[AMR][1000 genomes]
rs2912336	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2912340	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2919984	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2919985	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2919989	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41326652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7236477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3422577	chr18:28862003-28881811	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28877000-28883600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28880000-28882400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:28880200-28881200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr18:28880200-28882000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr18:28880200-28882400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:28880400-28881200	Enhancers	Stomach Mucosa	stomach
7	chr18:28880400-28882000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr18:28880400-28882000	Enhancers	Fetal Muscle Leg	muscle
9	chr18:28880400-28882600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:28880400-28882600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr18:28880400-28884600	Enhancers	HMEC	breast
12	chr18:28880600-28881400	Enhancers	Fetal Kidney	kidney
13	chr18:28880600-28881600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:28880600-28881600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:28880600-28881600	Enhancers	Fetal Intestine Small	intestine
16	chr18:28880600-28882000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:28880600-28882000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr18:28880600-28882000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:28880600-28882000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr18:28880600-28882400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr18:28880600-28884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:28880600-28884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:28880600-28885200	Enhancers	NHEK	skin
24	chr18:28880800-28881400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:28880800-28881400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:28880800-28881600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:28880800-28882000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr18:28880800-28882000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:28880800-28882200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr18:28880800-28883600	Weak transcription	Placenta	Placenta
31	chr18:28881000-28881600	Enhancers	Right Atrium	heart
32	chr18:28881000-28881600	Enhancers	HUVEC	blood vessel
33	chr18:28881000-28882000	Enhancers	Left Ventricle	heart
34	chr18:28881000-28883000	Enhancers	Fetal Intestine Large	intestine

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