Variant report

Variant	rs56104831
Chromosome Location	chr1:212571343-212571344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212570221..212572169-chr1:212580241..212582437,2	K562	blood:
2	chr1:212569599..212572522-chr1:212576653..212579387,2	K562	blood:
3	chr1:212559670..212562304-chr1:212569400..212571450,2	K562	blood:
4	chr1:212569162..212572404-chr1:212781980..212783777,4	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119919	0.84[ASN][1000 genomes]
rs11119920	0.84[ASN][1000 genomes]
rs11119924	0.88[ASN][1000 genomes]
rs11119929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119930	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576769	0.84[ASN][1000 genomes]
rs11584189	0.82[ASN][1000 genomes]
rs11587555	0.84[ASN][1000 genomes]
rs11588867	0.84[ASN][1000 genomes]
rs11590242	0.88[ASN][1000 genomes]
rs11590672	0.92[ASN][1000 genomes]
rs12060029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062818	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090970	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12095810	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12411213	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12726409	0.84[ASN][1000 genomes]
rs12736502	0.84[ASN][1000 genomes]
rs12756678	0.84[ASN][1000 genomes]
rs1470390	0.84[ASN][1000 genomes]
rs2120770	0.84[ASN][1000 genomes]
rs2297306	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358454	0.84[ASN][1000 genomes]
rs2884465	0.92[ASN][1000 genomes]
rs2884466	0.92[ASN][1000 genomes]
rs34080686	0.84[ASN][1000 genomes]
rs4951595	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754339	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518399	0.84[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	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	esv6419	chr1:212571216-212571386	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212526800-212582800	Weak transcription	Fetal Brain Male	brain
2	chr1:212528400-212583000	Weak transcription	Fetal Kidney	kidney
3	chr1:212540400-212575400	Weak transcription	HUVEC	blood vessel
4	chr1:212553200-212578400	Weak transcription	K562	blood
5	chr1:212556800-212587600	Weak transcription	Small Intestine	intestine
6	chr1:212558600-212578800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:212558600-212580000	Weak transcription	Left Ventricle	heart
8	chr1:212560200-212578400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:212560400-212580200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:212560600-212578200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:212560600-212578800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:212560600-212580200	Weak transcription	HSMMtube	muscle
13	chr1:212560600-212582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:212560600-212582000	Weak transcription	Gastric	stomach
15	chr1:212561000-212575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:212561000-212578000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:212561000-212579800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:212561000-212579800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:212561000-212580000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:212561000-212582400	Weak transcription	Aorta	Aorta
21	chr1:212561200-212572000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:212562000-212578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:212564200-212578800	Weak transcription	Esophagus	oesophagus
24	chr1:212564400-212575400	Weak transcription	Thymus	Thymus
25	chr1:212564600-212576200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:212564600-212577800	Weak transcription	Spleen	Spleen
27	chr1:212564600-212578600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:212564600-212579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:212569000-212572200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr1:212569400-212572000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr1:212569400-212572400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr1:212569400-212572800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:212569600-212582600	Weak transcription	Ovary	ovary
34	chr1:212569800-212571600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr1:212569800-212571800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:212569800-212572000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr1:212570000-212571600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr1:212570000-212571600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:212570000-212572600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:212570000-212572600	ZNF genes & repeats	Dnd41	blood
41	chr1:212570000-212572600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr1:212570200-212571400	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr1:212570200-212572000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:212570200-212572000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:212570400-212571400	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr1:212570400-212572400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr1:212570400-212572600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:212570400-212573000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr1:212570400-212578800	Weak transcription	Fetal Stomach	stomach
50	chr1:212570600-212571400	ZNF genes & repeats	NHEK	skin

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