Variant report

Variant	rs2141907
Chromosome Location	chr2:99975725-99975726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99970079..99971652-chr2:99974840..99977531,2	K562	blood:
2	chr2:99961051..99963164-chr2:99974814..99976661,2	MCF-7	breast:
3	chr2:99974527..99976992-chr2:99985044..99988423,4	K562	blood:
4	chr2:99971535..99975778-chr2:99978394..99981073,4	K562	blood:
5	chr2:99860434..99863311-chr2:99975532..99977093,2	MCF-7	breast:
6	chr2:99952769..99956325-chr2:99973466..99976650,4	K562	blood:
7	chr2:99952346..99954433-chr2:99975150..99979293,3	K562	blood:

Variant related genes	Relation type
ENSG00000115514	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10496336	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11885942	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11893359	0.91[EUR][1000 genomes]
rs11896520	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12474305	0.82[EUR][1000 genomes]
rs2305352	0.87[EUR][1000 genomes]
rs2309618	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28369945	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28382977	0.87[EUR][1000 genomes]
rs3087403	0.85[EUR][1000 genomes]
rs3792143	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3792150	0.86[EUR][1000 genomes]
rs4851203	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851207	0.82[EUR][1000 genomes]
rs61436115	0.85[EUR][1000 genomes]
rs62153852	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62155769	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62155807	0.88[EUR][1000 genomes]
rs6714650	0.82[EUR][1000 genomes]
rs6748200	0.84[EUR][1000 genomes]
rs737094	0.84[EUR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99955000-99977000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:99955000-99979200	Weak transcription	Fetal Stomach	stomach
3	chr2:99955000-99979800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:99955200-99979600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:99955200-99982600	Weak transcription	Fetal Brain Male	brain
6	chr2:99955400-99976800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:99955400-99979600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:99955400-99979600	Weak transcription	NH-A	brain
9	chr2:99955600-99978200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:99955800-99976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:99956000-99976400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:99956200-99976600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:99956200-99977600	Weak transcription	Fetal Thymus	thymus
14	chr2:99956200-100004800	Weak transcription	Fetal Heart	heart
15	chr2:99956400-99979600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:99956400-99979600	Weak transcription	HUVEC	blood vessel
17	chr2:99956600-99977200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:99957000-99977200	Weak transcription	Dnd41	blood
19	chr2:99957000-99978000	Weak transcription	Small Intestine	intestine
20	chr2:99957400-99978200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:99957600-99989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:99957800-99978200	Weak transcription	Hela-S3	cervix
23	chr2:99958000-99978800	Weak transcription	Fetal Intestine Small	intestine
24	chr2:99958200-99979600	Weak transcription	A549	lung
25	chr2:99959800-99977000	Weak transcription	HepG2	liver
26	chr2:99959800-99980000	Weak transcription	Lung	lung
27	chr2:99960600-99976200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:99961200-99979400	Weak transcription	Ovary	ovary
29	chr2:99962400-99979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:99962400-99979800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:99962600-99977800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:99963000-99976600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:99965000-99977000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:99965000-99977000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:99965200-99977000	Weak transcription	Primary B cells from cord blood	blood
36	chr2:99965200-99978000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:99965600-99979800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:99966800-99976400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:99967000-99977800	Weak transcription	Primary T cells from cord blood	blood
40	chr2:99967200-99976000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:99968000-99977000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:99969400-99981600	Weak transcription	Fetal Brain Female	brain
43	chr2:99970400-99976600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:99970400-99977000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:99970800-99977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:99970800-99977000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:99970800-99977000	Weak transcription	NHEK	skin
48	chr2:99970800-99977600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:99970800-99977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:99970800-99979200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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