Variant report

Variant	rs11885661
Chromosome Location	chr2:99232417-99232418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99231735-99232634	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:99231889-99232623	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:99231852-99232462	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:99231720-99232579	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:99231953-99233355	K562	blood:	n/a	n/a
6	POLR2A	chr2:99231799-99232519	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:99231976-99232886	GM12878	blood:	n/a	n/a
8	CTCF	chr2:99232300-99232450	A549	lung:	n/a	n/a
9	POLR2A	chr2:99231680-99232887	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr2:99229952-99236699	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:

Variant related genes	Relation type
UNC50	TF binding region
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10183473	1.00[AMR][1000 genomes]
rs11890366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11892907	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6710669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716095	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99225800-99235000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:99226600-99234400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:99226600-99234600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:99226600-99235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:99226600-99235800	Strong transcription	HSMM	muscle
6	chr2:99226800-99233600	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr2:99226800-99234400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:99226800-99235200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:99226800-99235400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:99226800-99235600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:99226800-99238600	Strong transcription	Primary B cells from cord blood	blood
12	chr2:99227000-99239000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:99227200-99234800	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:99227200-99234800	Strong transcription	Ovary	ovary
15	chr2:99227200-99235400	Strong transcription	NH-A	brain
16	chr2:99227200-99236000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:99227200-99236000	Strong transcription	Placenta	Placenta
18	chr2:99227200-99257400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:99227400-99233400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr2:99227400-99234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:99227400-99234600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:99227400-99234800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:99227400-99234800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:99227400-99234800	Strong transcription	Thymus	Thymus
25	chr2:99227400-99234800	Strong transcription	A549	lung
26	chr2:99227400-99234800	Strong transcription	HSMMtube	muscle
27	chr2:99227400-99235000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:99227400-99235200	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:99227400-99235400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:99227400-99235400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:99227400-99235600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:99227400-99235600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:99227400-99235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:99227600-99233400	Strong transcription	Primary T cells from cord blood	blood
35	chr2:99227600-99234000	Strong transcription	HMEC	breast
36	chr2:99227600-99234200	Strong transcription	Fetal Stomach	stomach
37	chr2:99227600-99235000	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:99227600-99235200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr2:99227600-99235200	Strong transcription	Osteobl	bone
40	chr2:99227600-99243200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:99227800-99234600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:99227800-99234600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:99227800-99234800	Strong transcription	GM12878-XiMat	blood
44	chr2:99227800-99239400	Strong transcription	HUVEC	blood vessel
45	chr2:99227800-99240200	Strong transcription	Fetal Thymus	thymus
46	chr2:99228000-99233600	Strong transcription	Fetal Lung	lung
47	chr2:99228000-99233800	Strong transcription	Fetal Intestine Small	intestine
48	chr2:99228000-99234200	Strong transcription	Brain Anterior Caudate	brain
49	chr2:99228000-99234800	Strong transcription	K562	blood
50	chr2:99228000-99235400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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