Variant report

Variant	rs10187257
Chromosome Location	chr2:149099206-149099207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10084377	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10168627	0.89[AFR][1000 genomes]
rs10172107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10172459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10175126	0.93[AFR][1000 genomes]
rs10179991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180813	0.89[AFR][1000 genomes]
rs10181040	0.89[AFR][1000 genomes]
rs10181462	0.93[AFR][1000 genomes]
rs10186976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189852	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191591	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191867	0.89[AFR][1000 genomes]
rs10197288	0.89[AFR][1000 genomes]
rs10199100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199661	0.89[AFR][1000 genomes]
rs10206286	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385606	0.89[AFR][1000 genomes]
rs13385697	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387197	0.89[AFR][1000 genomes]
rs13397712	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399551	0.89[AFR][1000 genomes]
rs13403934	0.86[AFR][1000 genomes]
rs13409565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417167	0.89[AFR][1000 genomes]
rs13419602	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422826	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426081	0.93[AFR][1000 genomes]
rs28405957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28594070	0.93[AFR][1000 genomes]
rs28605140	1.00[AMR][1000 genomes]
rs28647742	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv523090	chr2:149037012-149110873	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1012123	chr2:149078500-149151358	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv583289	chr2:149091754-149170115	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875277	chr2:149094415-149178974	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875278	chr2:149094415-149201775	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149059400-149100400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:149069400-149100200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:149071000-149105000	Weak transcription	Thymus	Thymus
4	chr2:149071400-149100400	Weak transcription	Ovary	ovary
5	chr2:149071800-149100400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:149085400-149100400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:149086400-149099600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:149086400-149099800	Weak transcription	GM12878-XiMat	blood
9	chr2:149086800-149100400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:149088400-149100400	Weak transcription	Fetal Kidney	kidney
11	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:149089600-149100400	Weak transcription	Fetal Intestine Large	intestine
13	chr2:149089600-149105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:149090000-149104200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:149090400-149100400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:149090400-149100400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:149090600-149100200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:149091000-149100000	Weak transcription	Pancreas	Pancrea
19	chr2:149092400-149100400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:149092400-149100400	Weak transcription	Right Ventricle	heart
21	chr2:149092600-149100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:149092600-149100400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:149092600-149100400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:149092600-149100400	Weak transcription	Fetal Brain Female	brain
25	chr2:149092600-149100400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:149092600-149100400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:149092600-149100400	Weak transcription	Small Intestine	intestine
28	chr2:149092800-149100400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:149092800-149101200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:149093000-149100400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:149093000-149100400	Weak transcription	Psoas Muscle	Psoas
32	chr2:149093000-149101200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:149093000-149103400	Weak transcription	Aorta	Aorta
34	chr2:149093200-149102400	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:149093200-149104000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:149094400-149101600	Weak transcription	Dnd41	blood
37	chr2:149094600-149100400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:149094600-149100400	Weak transcription	Primary B cells from cord blood	blood
39	chr2:149094600-149100400	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:149094600-149100400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:149094600-149100400	Weak transcription	Fetal Lung	lung
42	chr2:149094600-149100400	Weak transcription	Left Ventricle	heart
43	chr2:149094600-149100400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:149094600-149100800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:149094600-149102400	Weak transcription	Fetal Thymus	thymus
46	chr2:149094600-149115400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:149094600-149119800	Weak transcription	Fetal Stomach	stomach
48	chr2:149094800-149100400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:149095000-149103400	Weak transcription	Spleen	Spleen
50	chr2:149095200-149110200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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