Variant report

Variant	rs686196
Chromosome Location	chr18:29915261-29915262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr18:29915252-29915660	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29915109..29917928-chr18:29952038..29954321,2	MCF-7	breast:

Variant related genes	Relation type
GAREM	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1037753	0.84[CEU][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1689030	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16963287	0.83[ASW][hapmap];0.88[JPT][hapmap]
rs2034968	0.82[CHD][hapmap]
rs2421462	0.88[JPT][hapmap]
rs41527551	0.82[CHD][hapmap]
rs4530209	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs594344	0.82[MKK][hapmap]
rs595792	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs616601	0.88[CEU][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap]
rs618004	0.88[CEU][hapmap];0.89[MKK][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs625361	0.88[CEU][hapmap];0.83[YRI][hapmap]
rs638142	0.88[CEU][hapmap]
rs638868	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656946	0.88[CEU][hapmap];0.86[LWK][hapmap];0.99[MKK][hapmap];0.83[YRI][hapmap]
rs657479	0.86[CEU][hapmap]
rs668857	0.88[CEU][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs677721	0.82[YRI][hapmap]
rs7227973	0.88[ASN][1000 genomes]
rs7239218	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968099	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868200-29923800	Weak transcription	Gastric	stomach
2	chr18:29897200-29918800	Weak transcription	Fetal Intestine Large	intestine
3	chr18:29897200-29926400	Weak transcription	Fetal Stomach	stomach
4	chr18:29897400-29923800	Weak transcription	Esophagus	oesophagus
5	chr18:29897400-29923800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr18:29898000-29918600	Weak transcription	Fetal Intestine Small	intestine
7	chr18:29898200-29915400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:29903400-29915800	Weak transcription	Fetal Brain Male	brain
9	chr18:29904400-29930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:29904600-29917200	Weak transcription	HMEC	breast
11	chr18:29906800-29917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:29906800-29922200	Weak transcription	Ovary	ovary
13	chr18:29906800-29923800	Weak transcription	Right Atrium	heart
14	chr18:29907800-29921800	Weak transcription	Liver	Liver
15	chr18:29909000-29917800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:29909200-29917600	Weak transcription	Stomach Mucosa	stomach
17	chr18:29910600-29929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr18:29911600-29915400	Enhancers	Fetal Heart	heart
19	chr18:29911800-29916000	Enhancers	Brain Cingulate Gyrus	brain
20	chr18:29912000-29918600	Weak transcription	Small Intestine	intestine
21	chr18:29912200-29916000	Enhancers	Brain Hippocampus Middle	brain
22	chr18:29912800-29916000	Enhancers	Brain Angular Gyrus	brain
23	chr18:29912800-29918000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr18:29912800-29923800	Weak transcription	Lung	lung
25	chr18:29913200-29916000	Enhancers	Pancreas	Pancrea
26	chr18:29913400-29916000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr18:29913400-29918800	Weak transcription	Psoas Muscle	Psoas
28	chr18:29913400-29926600	Weak transcription	Aorta	Aorta
29	chr18:29913600-29916000	Enhancers	Brain Anterior Caudate	brain
30	chr18:29914000-29916000	Enhancers	Fetal Brain Female	brain
31	chr18:29914000-29923400	Weak transcription	Right Ventricle	heart
32	chr18:29914200-29917200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:29914200-29918800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr18:29914600-29915400	Enhancers	Fetal Kidney	kidney
35	chr18:29914600-29916000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:29914800-29915600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:29914800-29915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr18:29914800-29916000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:29914800-29916000	Enhancers	Left Ventricle	heart
40	chr18:29914800-29917400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:29915000-29915800	Weak transcription	Spleen	Spleen
42	chr18:29915000-29916000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:29915000-29916000	Enhancers	Brain Germinal Matrix	brain
44	chr18:29915000-29923400	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:29915200-29916000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:29915200-29916000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr18:29915200-29916000	Enhancers	Adipose Nuclei	Adipose
48	chr18:29915200-29916000	Enhancers	Brain Substantia Nigra	brain

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