Variant report

Variant	rs6818461
Chromosome Location	chr4:187621281-187621282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187619873..187621530-chr4:187627927..187629448,2	K562	blood:
2	chr4:187618926..187621391-chr4:187624842..187626723,2	K562	blood:
3	chr4:187619254..187623290-chr4:187636723..187640845,3	MCF-7	breast:
4	chr4:187613163..187617339-chr4:187617909..187621339,4	K562	blood:
5	chr4:187578695..187580964-chr4:187621080..187622858,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17077740	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2017933	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs327067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327095	0.88[GIH][hapmap]
rs327101	0.90[GIH][hapmap]
rs327102	1.00[CEU][hapmap];0.87[GIH][hapmap];0.83[TSI][hapmap]
rs327111	0.88[CHB][hapmap]
rs3733409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3733415	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs455219	0.95[GIH][hapmap]
rs462509	0.88[CHB][hapmap]
rs59035714	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73015642	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73015656	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73015660	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73015670	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6818461	HELT	cis	parietal	SCAN
rs6818461	CLDN22	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:187608000-187632400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:187608200-187622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:187614800-187629400	Weak transcription	Esophagus	oesophagus
5	chr4:187615000-187621400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:187615000-187622000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:187615000-187623400	Weak transcription	Hela-S3	cervix
8	chr4:187615200-187621800	Weak transcription	Adipose Nuclei	Adipose
9	chr4:187615400-187628000	Weak transcription	K562	blood
10	chr4:187615600-187621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:187618200-187621400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:187618400-187625000	Genic enhancers	Fetal Intestine Small	intestine
13	chr4:187618600-187621800	Weak transcription	Fetal Brain Female	brain
14	chr4:187618600-187622000	Strong transcription	A549	lung
15	chr4:187619000-187621400	Enhancers	Right Ventricle	heart
16	chr4:187619000-187621600	Enhancers	Fetal Heart	heart
17	chr4:187619000-187623200	Genic enhancers	Fetal Intestine Large	intestine
18	chr4:187619200-187623400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:187619600-187621600	Weak transcription	NHLF	lung
20	chr4:187619600-187622200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:187619800-187621600	Weak transcription	Lung	lung
22	chr4:187619800-187623400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr4:187620000-187621600	Weak transcription	NH-A	brain
24	chr4:187620000-187621800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:187620000-187622000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:187620000-187622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:187620000-187628800	Weak transcription	Small Intestine	intestine
28	chr4:187620400-187623400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:187620400-187624200	Enhancers	Fetal Muscle Leg	muscle
30	chr4:187620400-187625400	Genic enhancers	HMEC	breast
31	chr4:187620600-187621400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:187620600-187621600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:187620600-187621600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:187620600-187621800	Enhancers	Aorta	Aorta
35	chr4:187620600-187622000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:187620600-187623200	Genic enhancers	NHEK	skin
37	chr4:187620600-187624000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:187620600-187624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:187620600-187624400	Enhancers	Fetal Kidney	kidney
40	chr4:187620600-187624600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:187620600-187624600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr4:187620600-187624600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:187620600-187625800	Enhancers	Fetal Lung	lung
44	chr4:187620800-187621800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:187620800-187622000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:187620800-187622000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:187620800-187622200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:187620800-187623000	Genic enhancers	HepG2	liver
49	chr4:187620800-187624200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:187620800-187625400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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