Variant report

Variant	rs641777
Chromosome Location	chr18:29630817-29630818
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12455805	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12455807	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1984583	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2432697	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2433377	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2901365	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2911636	0.82[ASN][1000 genomes]
rs2912538	0.82[ASN][1000 genomes]
rs336273	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs336274	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs336275	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs336276	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs373667	0.80[ASN][1000 genomes]
rs417944	0.92[ASN][1000 genomes]
rs454768	0.80[ASN][1000 genomes]
rs62093943	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7228224	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8089092	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9947278	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs641777	RNF138	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
5	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
7	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
11	chr18:29622800-29639800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:29626200-29639800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr18:29627000-29637600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:29627200-29632000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr18:29627400-29637600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr18:29627600-29631400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr18:29627800-29631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:29627800-29631400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:29627800-29631400	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr18:29627800-29631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:29628200-29631200	Enhancers	Primary hematopoietic stem cells	blood
23	chr18:29628400-29631000	Enhancers	Fetal Intestine Large	intestine
24	chr18:29628400-29631000	Enhancers	Dnd41	blood
25	chr18:29628400-29631200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr18:29628400-29631200	Genic enhancers	Primary T cells from cord blood	blood
27	chr18:29628600-29631000	Enhancers	Placenta	Placenta
28	chr18:29629000-29633400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr18:29629200-29635000	Weak transcription	Lung	lung
30	chr18:29629200-29638200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:29629600-29631200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:29629800-29631000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:29629800-29631400	Enhancers	Hela-S3	cervix
34	chr18:29630000-29631000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:29630000-29631200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr18:29630000-29631800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:29630000-29633800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr18:29630000-29637800	Weak transcription	Right Atrium	heart
39	chr18:29630000-29638800	Weak transcription	Liver	Liver
40	chr18:29630000-29640200	Weak transcription	Thymus	Thymus
41	chr18:29630000-29646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr18:29630000-29664400	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:29630200-29631400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr18:29630200-29635200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr18:29630200-29635200	Weak transcription	Adipose Nuclei	Adipose
46	chr18:29630200-29636400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr18:29630200-29646400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr18:29630400-29632600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr18:29630400-29636200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr18:29630400-29646600	Weak transcription	Duodenum Mucosa	Duodenum

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