Variant report

Variant	rs4849118
Chromosome Location	chr2:113497295-113497296
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	chr2:113490480..113492391-chr2:113497209..113499304,2	MCF-7	breast:
2	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10165537	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187872	0.83[EUR][1000 genomes]
rs10193063	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10200192	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10203064	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123148	0.83[EUR][1000 genomes]
rs11123149	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463996	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12475027	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12622683	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13013602	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13015273	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13016817	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13019249	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13026263	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13036237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13382217	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13429613	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17649681	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2862226	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811040	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827761	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4261731	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4848298	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55762606	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58694576	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6706663	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712572	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6721044	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721292	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753803	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577241	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591704	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594852	0.94[EUR][1000 genomes]
rs7599690	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7607470	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
3	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
6	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
8	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
9	chr2:113492000-113497600	Weak transcription	K562	blood
10	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
12	chr2:113492400-113497400	Weak transcription	NHLF	lung
13	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:113492400-113498000	Weak transcription	Fetal Lung	lung
16	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
19	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:113494400-113498000	Strong transcription	NHEK	skin
21	chr2:113494400-113500000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:113494600-113498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:113494600-113502400	Strong transcription	Fetal Stomach	stomach
26	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:113494800-113505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:113494800-113506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:113494800-113506200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr2:113494800-113507000	Strong transcription	Dnd41	blood
31	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:113495000-113497400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:113495000-113500000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:113495200-113500400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:113495200-113500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:113495200-113504200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:113495400-113497400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:113495400-113499200	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:113495600-113498200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:113495600-113499800	Weak transcription	Hela-S3	cervix
41	chr2:113495600-113500400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:113495600-113500400	Strong transcription	HSMM	muscle
43	chr2:113495600-113502400	Strong transcription	Thymus	Thymus
44	chr2:113495800-113497400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:113495800-113497800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:113495800-113499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:113495800-113500400	Strong transcription	GM12878-XiMat	blood
48	chr2:113495800-113500400	Strong transcription	NH-A	brain
49	chr2:113495800-113502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:113495800-113503600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links