Variant report

Variant	rs7277227
Chromosome Location	chr21:45650800-45650801
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45648743..45651558-chr21:45652534..45654668,2	K562	blood:
2	chr21:45561699..45563814-chr21:45648554..45651236,3	K562	blood:
3	chr21:45561699..45563359-chr21:45648827..45651236,2	K562	blood:
4	chr21:45647000..45652679-chr21:45655526..45663684,10	MCF-7	breast:
5	chr21:45626157..45628593-chr21:45648782..45651445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2298565	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2329714	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2329716	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4511811	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818890	0.95[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4819387	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7280525	0.91[ASN][1000 genomes]
rs9977351	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
9	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
10	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
11	nsv913901	chr21:45615741-45665330	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv470906	chr21:45627976-45661343	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
15	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
16	nsv913903	chr21:45630608-45657970	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv913904	chr21:45636881-45700641	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
18	nsv913905	chr21:45640629-45696025	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
2	chr21:45632200-45659600	Weak transcription	Fetal Kidney	kidney
3	chr21:45639800-45659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45640000-45659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:45640600-45653400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr21:45641600-45654400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:45643400-45653600	Weak transcription	HepG2	liver
8	chr21:45643400-45659600	Weak transcription	Hela-S3	cervix
9	chr21:45643600-45652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:45643600-45653400	Weak transcription	Left Ventricle	heart
11	chr21:45643600-45653400	Weak transcription	HMEC	breast
12	chr21:45643600-45653800	Weak transcription	Stomach Mucosa	stomach
13	chr21:45643600-45654400	Weak transcription	NHEK	skin
14	chr21:45643600-45654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:45644800-45659400	Weak transcription	Small Intestine	intestine
16	chr21:45645200-45659200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:45645400-45653200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr21:45645600-45651600	Strong transcription	Esophagus	oesophagus
19	chr21:45645800-45651200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:45645800-45651600	Strong transcription	GM12878-XiMat	blood
21	chr21:45645800-45656600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr21:45646000-45651600	Genic enhancers	Brain Hippocampus Middle	brain
23	chr21:45646000-45653400	Weak transcription	Thymus	Thymus
24	chr21:45646000-45659000	Strong transcription	Fetal Intestine Small	intestine
25	chr21:45646200-45656400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:45646200-45657400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:45646200-45657400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45646200-45658600	Strong transcription	Liver	Liver
29	chr21:45646200-45658800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr21:45646400-45651600	Strong transcription	Gastric	stomach
31	chr21:45646400-45657600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr21:45646600-45651600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr21:45646600-45651800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr21:45646600-45651800	Strong transcription	Placenta	Placenta
35	chr21:45646800-45651400	Strong transcription	Lung	lung
36	chr21:45646800-45651400	Strong transcription	Spleen	Spleen
37	chr21:45646800-45657000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr21:45646800-45658400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45646800-45658800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:45647000-45652800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:45647000-45653200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr21:45647400-45651400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:45647400-45657400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr21:45647800-45657400	Strong transcription	Colonic Mucosa	Colon
45	chr21:45647800-45657600	Strong transcription	Primary B cells from cord blood	blood
46	chr21:45648000-45650800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:45648200-45651600	Strong transcription	Adipose Nuclei	Adipose
48	chr21:45648400-45651400	ZNF genes & repeats	Fetal Stomach	stomach
49	chr21:45648400-45656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr21:45648400-45658400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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