Variant report

Variant	rs73228905
Chromosome Location	chr21:45478835-45478836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45476652..45480295-chr21:45485072..45489102,4	MCF-7	breast:
2	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2242949	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2838475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788100	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55794203	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55956418	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56273547	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56340987	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
5	chr21:45458000-45482800	Weak transcription	HMEC	breast
6	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:45463400-45480600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:45463400-45485200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:45463600-45485000	Strong transcription	Thymus	Thymus
12	chr21:45464200-45480000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr21:45465200-45485200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:45465800-45480000	Strong transcription	Dnd41	blood
15	chr21:45465800-45485000	Strong transcription	Fetal Thymus	thymus
16	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:45466000-45480800	Strong transcription	Primary T cells from cord blood	blood
18	chr21:45466000-45484400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:45466200-45480600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:45469000-45480000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr21:45469000-45480400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45470400-45480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:45470800-45480000	Strong transcription	GM12878-XiMat	blood
28	chr21:45471400-45480000	Strong transcription	Esophagus	oesophagus
29	chr21:45471400-45480400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr21:45471400-45487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:45471600-45480000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr21:45471800-45480600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
34	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
35	chr21:45472000-45480400	Strong transcription	Adipose Nuclei	Adipose
36	chr21:45472000-45480400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
38	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr21:45472200-45479000	Weak transcription	Small Intestine	intestine
40	chr21:45472200-45480000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:45472200-45480600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr21:45472400-45491200	Strong transcription	Fetal Intestine Large	intestine
43	chr21:45472600-45483200	Weak transcription	Stomach Mucosa	stomach
44	chr21:45472600-45504400	Strong transcription	Fetal Stomach	stomach
45	chr21:45472800-45480000	Strong transcription	Primary B cells from cord blood	blood
46	chr21:45472800-45480200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:45472800-45503800	Strong transcription	Liver	Liver
48	chr21:45473000-45485200	Weak transcription	Colon Smooth Muscle	Colon
49	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr21:45474800-45480000	Strong transcription	Gastric	stomach

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