Variant report

Variant	rs60790636
Chromosome Location	chr18:29630377-29630378
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29628181..29630533-chr18:29631429..29634258,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10502580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10502581	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11874448	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55673393	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56403688	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57172349	1.00[EUR][1000 genomes]
rs57264191	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57412069	1.00[EUR][1000 genomes]
rs57807662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58115302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59338045	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59424188	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59939125	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60448569	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60933882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61038301	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61499404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61628852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73954971	1.00[EUR][1000 genomes]
rs73954976	1.00[EUR][1000 genomes]
rs73954980	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73954986	1.00[EUR][1000 genomes]
rs73954988	1.00[AMR][1000 genomes];1.00[EUR][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

No data

Chromatin state (count:70 , 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	chr18:29626800-29630800	Enhancers	Primary B cells from cord blood	blood
15	chr18:29627000-29637600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:29627200-29632000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:29627400-29630800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:29627400-29637600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr18:29627600-29631400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr18:29627800-29631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:29627800-29631400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr18:29627800-29631400	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr18:29627800-29631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:29628200-29630800	Enhancers	Fetal Intestine Small	intestine
25	chr18:29628200-29631200	Enhancers	Primary hematopoietic stem cells	blood
26	chr18:29628400-29630400	Enhancers	Duodenum Mucosa	Duodenum
27	chr18:29628400-29630600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr18:29628400-29631000	Enhancers	Fetal Intestine Large	intestine
29	chr18:29628400-29631000	Enhancers	Dnd41	blood
30	chr18:29628400-29631200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr18:29628400-29631200	Genic enhancers	Primary T cells from cord blood	blood
32	chr18:29628600-29630400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr18:29628600-29630400	Enhancers	Small Intestine	intestine
34	chr18:29628600-29630600	Enhancers	Fetal Thymus	thymus
35	chr18:29628600-29631000	Enhancers	Placenta	Placenta
36	chr18:29628800-29630400	Enhancers	Left Ventricle	heart
37	chr18:29629000-29630400	Enhancers	Right Ventricle	heart
38	chr18:29629000-29633400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr18:29629200-29630800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr18:29629200-29635000	Weak transcription	Lung	lung
41	chr18:29629200-29638200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr18:29629600-29630400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:29629600-29630400	Enhancers	HMEC	breast
44	chr18:29629600-29630400	Enhancers	HUVEC	blood vessel
45	chr18:29629600-29630400	Enhancers	NHEK	skin
46	chr18:29629600-29630800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr18:29629600-29631200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:29629800-29630400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:29629800-29630600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr18:29629800-29630800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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