Variant report

Variant	rs73091206
Chromosome Location	chr1:212271810-212271811
allele	A/G
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	NFIC	chr1:212271503-212272008	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:212271788-212272241	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:

Variant related genes	Relation type
DTL	TF binding region
ENSG00000066027	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17018239	1.00[AMR][1000 genomes]
rs17018259	1.00[AMR][1000 genomes]
rs17018260	1.00[AMR][1000 genomes]
rs17018263	1.00[AMR][1000 genomes]
rs17018265	1.00[AMR][1000 genomes]
rs17018280	1.00[AMR][1000 genomes]
rs17018378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34836942	0.82[AFR][1000 genomes]
rs57157835	0.85[AFR][1000 genomes]
rs57590060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58628059	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58894487	1.00[AMR][1000 genomes]
rs6676589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072526	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072538	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73072557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091040	1.00[AMR][1000 genomes]
rs73091041	1.00[AMR][1000 genomes]
rs73091059	1.00[AMR][1000 genomes]
rs73091209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091210	0.98[AFR][1000 genomes]
rs73091229	0.81[AFR][1000 genomes]

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	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212254800-212278000	Weak transcription	NHDF-Ad	bronchial
4	chr1:212256400-212278600	Weak transcription	NHLF	lung
5	chr1:212262000-212276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:212262000-212283000	Weak transcription	NH-A	brain
7	chr1:212262000-212284400	Weak transcription	Osteobl	bone
8	chr1:212262200-212272200	Weak transcription	Gastric	stomach
9	chr1:212262200-212273600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212262200-212273800	Weak transcription	NHEK	skin
11	chr1:212262200-212279600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:212262600-212273800	Weak transcription	HMEC	breast
14	chr1:212263000-212275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:212263400-212274000	Weak transcription	Fetal Lung	lung
16	chr1:212263400-212278200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:212263600-212273800	Weak transcription	HUVEC	blood vessel
18	chr1:212264000-212273800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:212264400-212282400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:212265200-212273000	Weak transcription	HepG2	liver
21	chr1:212266000-212273200	Weak transcription	A549	lung
22	chr1:212266000-212274200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:212266400-212272000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:212267000-212273800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:212267200-212273600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:212267200-212287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:212268600-212282800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:212269800-212272000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:212269800-212279600	Strong transcription	Dnd41	blood
30	chr1:212270200-212278800	Weak transcription	Primary T cells from cord blood	blood
31	chr1:212270400-212280400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:212270600-212276800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:212270600-212280200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:212270800-212279800	Strong transcription	Fetal Thymus	thymus
35	chr1:212271000-212272200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:212271000-212275400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:212271200-212272200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:212271200-212272200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:212271200-212272200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:212271200-212272200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:212271200-212272400	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr1:212271200-212272400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:212271200-212272600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:212271200-212274600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:212271400-212274400	Strong transcription	Thymus	Thymus
46	chr1:212271400-212280000	Strong transcription	GM12878-XiMat	blood
47	chr1:212271600-212272000	Enhancers	Lung	lung
48	chr1:212271600-212272200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr1:212271600-212272200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:212271600-212272400	Genic enhancers	Fetal Stomach	stomach

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