Variant report

Variant	rs11119845
Chromosome Location	chr1:212264087-212264088
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212263201..212265024-chr1:212267233..212269275,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10779569	1.00[YRI][hapmap]
rs11119825	1.00[YRI][hapmap]
rs11119826	1.00[YRI][hapmap]
rs11119827	1.00[YRI][hapmap]
rs11119865	1.00[YRI][hapmap]
rs12116748	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12122247	1.00[YRI][hapmap]
rs12122488	1.00[YRI][hapmap]
rs12123274	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12125159	1.00[YRI][hapmap]
rs12125796	1.00[YRI][hapmap]
rs12126761	1.00[YRI][hapmap]
rs12130548	1.00[YRI][hapmap]
rs12131060	1.00[YRI][hapmap]
rs12132233	1.00[YRI][hapmap]
rs12135924	1.00[YRI][hapmap]
rs12144884	1.00[YRI][hapmap]
rs12145020	1.00[YRI][hapmap]
rs12723988	1.00[YRI][hapmap]
rs12724564	1.00[YRI][hapmap]
rs12747761	1.00[YRI][hapmap]
rs17699316	0.83[AFR][1000 genomes]
rs3795836	1.00[YRI][hapmap]
rs6661987	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:212229600-212266600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:212229800-212266400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:212230000-212265200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:212233000-212266400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:212234000-212265400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:212234000-212265800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:212234200-212267400	Strong transcription	Dnd41	blood
9	chr1:212236000-212265200	Strong transcription	K562	blood
10	chr1:212237000-212266200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:212237200-212267000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:212237600-212266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:212241600-212264200	Weak transcription	Fetal Brain Female	brain
14	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:212244600-212267200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:212249400-212266000	Strong transcription	A549	lung
17	chr1:212253000-212270800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:212254800-212278000	Weak transcription	NHDF-Ad	bronchial
19	chr1:212256000-212266600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:212256000-212266800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:212256000-212271000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:212256400-212264800	Weak transcription	HepG2	liver
23	chr1:212256400-212265800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:212256400-212271200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:212256400-212278600	Weak transcription	NHLF	lung
26	chr1:212259400-212264600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:212261000-212264800	Enhancers	Fetal Heart	heart
28	chr1:212261000-212265200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr1:212261200-212264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:212261800-212264600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:212261800-212271800	Weak transcription	Spleen	Spleen
32	chr1:212262000-212265200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:212262000-212266400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:212262000-212266400	Weak transcription	Fetal Stomach	stomach
35	chr1:212262000-212266600	Weak transcription	HSMM	muscle
36	chr1:212262000-212266800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:212262000-212271800	Weak transcription	Hela-S3	cervix
38	chr1:212262000-212276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:212262000-212283000	Weak transcription	NH-A	brain
40	chr1:212262000-212284400	Weak transcription	Osteobl	bone
41	chr1:212262200-212264800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:212262200-212266600	Weak transcription	Thymus	Thymus
43	chr1:212262200-212272200	Weak transcription	Gastric	stomach
44	chr1:212262200-212273600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:212262200-212273800	Weak transcription	NHEK	skin
46	chr1:212262200-212279600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:212262600-212264400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:212262600-212267200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:212262600-212267800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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