Variant report

Variant	rs35336851
Chromosome Location	chr2:64244541-64244542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64243174..64244724-chr2:64244885..64246414,2	K562	blood:
2	chr2:64241698..64244802-chr2:64245150..64248810,6	MCF-7	breast:
3	chr2:64234313..64237072-chr2:64243615..64245579,2	MCF-7	breast:
4	chr2:64238078..64240765-chr2:64241757..64244633,2	K562	blood:
5	chr2:64236322..64240765-chr2:64241571..64244633,4	K562	blood:
6	chr2:64242543..64244844-chr2:64248879..64250453,2	K562	blood:
7	chr2:64241763..64244810-chr2:64244833..64246626,3	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10183479	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11558741	0.83[ASN][1000 genomes]
rs11674020	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11676710	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11682249	0.81[AFR][1000 genomes]
rs11683408	0.91[ASN][1000 genomes]
rs11691987	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11693906	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12713498	0.83[ASN][1000 genomes]
rs12996866	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13018690	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13431781	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1440002	0.85[ASN][1000 genomes]
rs17562177	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17562423	0.93[ASN][1000 genomes]
rs193031	0.86[ASN][1000 genomes]
rs2302808	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2439183	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2969395	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs329478	0.94[ASN][1000 genomes]
rs329488	0.86[ASN][1000 genomes]
rs34122334	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34765999	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34777730	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35002211	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35480874	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35697586	0.94[ASN][1000 genomes]
rs35960986	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36033991	0.85[ASN][1000 genomes]
rs36123537	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4538187	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671071	0.81[EUR][1000 genomes]
rs56904032	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6546029	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546030	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546032	0.83[ASN][1000 genomes]
rs6546033	0.82[ASN][1000 genomes]
rs6546035	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66980330	0.83[ASN][1000 genomes]
rs6715992	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67308158	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6731508	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6732746	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6755646	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67615384	0.87[ASN][1000 genomes]
rs67765474	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68117986	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808243	0.83[ASN][1000 genomes]
rs72893103	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74181291	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7590399	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:64209400-64244800	Weak transcription	HSMM	muscle
3	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
4	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
8	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:64229400-64244800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:64229400-64244800	Weak transcription	Fetal Stomach	stomach
14	chr2:64229400-64244800	Weak transcription	Right Ventricle	heart
15	chr2:64229400-64245400	Weak transcription	Pancreas	Pancrea
16	chr2:64231600-64244600	Weak transcription	Osteobl	bone
17	chr2:64231800-64244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:64236400-64244600	Weak transcription	Liver	Liver
19	chr2:64238400-64244800	Weak transcription	NH-A	brain
20	chr2:64241600-64244800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:64241800-64245000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:64242200-64244800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:64242400-64244600	Enhancers	Adipose Nuclei	Adipose
24	chr2:64242400-64244600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:64242400-64245000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:64242600-64244600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:64242600-64244600	Enhancers	Colon Smooth Muscle	Colon
28	chr2:64242600-64244600	Enhancers	Psoas Muscle	Psoas
29	chr2:64242600-64244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:64242600-64244800	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:64242600-64244800	Enhancers	Hela-S3	cervix
32	chr2:64242600-64245000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:64242800-64244600	Weak transcription	Primary B cells from cord blood	blood
34	chr2:64242800-64244800	Weak transcription	Right Atrium	heart
35	chr2:64242800-64245200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:64243000-64244600	Enhancers	Left Ventricle	heart
37	chr2:64243000-64244600	Enhancers	A549	lung
38	chr2:64243000-64244800	Weak transcription	Primary T cells from cord blood	blood
39	chr2:64243000-64246800	Active TSS	GM12878-XiMat	blood
40	chr2:64243200-64244600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:64243200-64244800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:64243200-64244800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:64243200-64244800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:64243200-64245000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:64243400-64244600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:64243400-64244600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:64243400-64244600	Weak transcription	Brain Substantia Nigra	brain
48	chr2:64243400-64244600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:64243400-64244600	Weak transcription	Fetal Kidney	kidney
50	chr2:64243400-64244600	Weak transcription	HMEC	breast

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