Variant report

Variant	rs11736488
Chromosome Location	chr4:186642895-186642896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186642780..186645447-chr4:186647072..186650843,3	MCF-7	breast:
2	chr4:186642283..186645621-chr4:186649150..186653147,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11132341	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723622	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11725118	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11725143	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11726090	0.80[CHB][hapmap]
rs11729538	0.80[CHB][hapmap]
rs11731079	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11735888	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs11931896	0.91[CEU][hapmap]
rs12646619	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12650192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56341407	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62334776	0.84[ASN][1000 genomes]
rs62334780	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62334783	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6823546	0.80[CHB][hapmap]
rs6823677	0.80[CHB][hapmap]
rs6825881	1.00[CEU][hapmap];0.95[EUR][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	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS 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	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11736488	MLF1IP	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186622000-186651800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:186630000-186651600	Weak transcription	HSMM	muscle
3	chr4:186634400-186645200	Enhancers	Liver	Liver
4	chr4:186634400-186651800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:186638000-186645000	Weak transcription	Right Atrium	heart
6	chr4:186638400-186648200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:186638400-186648200	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:186638600-186651600	Weak transcription	Psoas Muscle	Psoas
9	chr4:186639000-186644000	Weak transcription	HUVEC	blood vessel
10	chr4:186639000-186651000	Enhancers	Fetal Heart	heart
11	chr4:186639600-186645800	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:186640000-186643800	Enhancers	Fetal Brain Male	brain
13	chr4:186640800-186653600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:186641000-186645400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:186641200-186643000	Weak transcription	Fetal Kidney	kidney
16	chr4:186641400-186647200	Weak transcription	Aorta	Aorta
17	chr4:186641400-186651600	Weak transcription	Right Ventricle	heart
18	chr4:186641600-186646800	Enhancers	Fetal Stomach	stomach
19	chr4:186641800-186643400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr4:186641800-186648200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:186642000-186643000	Enhancers	Brain Anterior Caudate	brain
22	chr4:186642000-186643800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:186642000-186646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:186642200-186644400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:186642200-186651600	Weak transcription	Spleen	Spleen
26	chr4:186642400-186643000	Flanking Active TSS	HepG2	liver
27	chr4:186642400-186643400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:186642400-186643800	Enhancers	Fetal Brain Female	brain
29	chr4:186642400-186645400	Enhancers	Stomach Mucosa	stomach
30	chr4:186642600-186643000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:186642600-186643000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:186642600-186643000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:186642600-186643000	Enhancers	Brain Hippocampus Middle	brain
34	chr4:186642600-186643000	Enhancers	Fetal Intestine Small	intestine
35	chr4:186642600-186643000	Flanking Active TSS	Hela-S3	cervix
36	chr4:186642600-186643200	Enhancers	Adipose Nuclei	Adipose
37	chr4:186642600-186643400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:186642600-186643400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:186642600-186643400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:186642600-186643400	Enhancers	HSMMtube	muscle
41	chr4:186642600-186643400	Enhancers	NHDF-Ad	bronchial
42	chr4:186642600-186643400	Enhancers	Osteobl	bone
43	chr4:186642600-186644400	Weak transcription	Ovary	ovary
44	chr4:186642600-186644600	Enhancers	Fetal Lung	lung
45	chr4:186642800-186643000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:186642800-186643000	Enhancers	Colon Smooth Muscle	Colon
47	chr4:186642800-186643000	Enhancers	Pancreas	Pancrea
48	chr4:186642800-186643200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:186642800-186643200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:186642800-186643800	Enhancers	Stomach Smooth Muscle	stomach

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