Variant report

Variant	rs7233649
Chromosome Location	chr18:9608708-9608709
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9607097..9610234-chr18:9611887..9616228,7	MCF-7	breast:
2	chr18:9598014..9601741-chr18:9607589..9612497,6	MCF-7	breast:
3	chr18:9608061..9610764-chr18:9617117..9619483,2	MCF-7	breast:
4	chr18:9474317..9476491-chr18:9607261..9609060,2	K562	blood:
5	chr18:9595087..9597869-chr18:9607007..9610720,3	MCF-7	breast:
6	chr18:9606592..9610420-chr18:9613242..9616597,5	MCF-7	breast:
7	chr18:9608014..9609757-chr18:9710686..9713009,2	K562	blood:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1036930	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11081487	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12327541	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16955297	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869737	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869738	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1869739	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028657	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2840354	0.86[ASN][1000 genomes]
rs55841197	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56883068	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57539299	0.86[ASN][1000 genomes]
rs58800301	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58982927	0.86[ASN][1000 genomes]
rs60290408	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61275183	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62087456	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088860	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088870	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088872	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088873	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088875	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088876	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62088880	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088881	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088885	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088904	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62088908	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6506677	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7228280	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7231531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233308	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7234355	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7235935	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236274	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237018	0.86[ASN][1000 genomes]
rs7238137	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7239083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72945737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096551	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9581400-9609200	Weak transcription	Pancreas	Pancrea
4	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:9589000-9608800	Weak transcription	Thymus	Thymus
6	chr18:9589000-9609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:9589000-9611000	Weak transcription	Lung	lung
8	chr18:9594200-9609200	Weak transcription	Aorta	Aorta
9	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:9595200-9612000	Weak transcription	Esophagus	oesophagus
11	chr18:9595400-9608800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr18:9596000-9611000	Weak transcription	Gastric	stomach
13	chr18:9597000-9608800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:9597200-9611000	Weak transcription	NH-A	brain
15	chr18:9597400-9609200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr18:9597600-9609200	Weak transcription	Ovary	ovary
18	chr18:9598000-9612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:9600200-9609400	Weak transcription	HSMM	muscle
20	chr18:9601400-9609200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:9601400-9610800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr18:9601600-9610800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:9601800-9609200	Weak transcription	Fetal Muscle Leg	muscle
24	chr18:9601800-9610400	Weak transcription	Fetal Stomach	stomach
25	chr18:9601800-9612200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:9603200-9609200	Weak transcription	Dnd41	blood
27	chr18:9603200-9610800	Weak transcription	Placenta	Placenta
28	chr18:9603200-9611000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr18:9603400-9609000	Weak transcription	Fetal Thymus	thymus
30	chr18:9603600-9611000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:9603800-9609200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr18:9603800-9611000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:9604200-9608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:9604200-9611000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:9604400-9610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:9604400-9611000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:9604600-9609200	Weak transcription	Left Ventricle	heart
38	chr18:9604600-9609200	Weak transcription	Psoas Muscle	Psoas
39	chr18:9604600-9609200	Weak transcription	NHDF-Ad	bronchial
40	chr18:9604600-9610800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr18:9604600-9611000	Weak transcription	Primary B cells from cord blood	blood
42	chr18:9604600-9611000	Weak transcription	Spleen	Spleen
43	chr18:9604800-9612200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr18:9604800-9612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr18:9605000-9608800	Weak transcription	Primary T cells from cord blood	blood
46	chr18:9605000-9608800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr18:9605000-9611200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr18:9605200-9610800	Weak transcription	Fetal Intestine Large	intestine
49	chr18:9605600-9611600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:9606000-9611000	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links