Variant report

Variant	rs12087051
Chromosome Location	chr1:9859824-9859825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9858725..9860856-chr1:9868974..9871058,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10779731	0.89[EUR][1000 genomes]
rs10864437	0.88[EUR][1000 genomes]
rs10864438	0.89[EUR][1000 genomes]
rs11121490	0.83[EUR][1000 genomes]
rs11121493	0.85[EUR][1000 genomes]
rs11674	0.89[EUR][1000 genomes]
rs11806520	0.93[EUR][1000 genomes]
rs12034239	0.82[EUR][1000 genomes]
rs12047054	0.84[EUR][1000 genomes]
rs12068489	0.90[ASN][1000 genomes]
rs12078414	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12088273	0.88[EUR][1000 genomes]
rs1220386	0.84[ASN][1000 genomes]
rs1228434	0.85[EUR][1000 genomes]
rs1615629	0.91[EUR][1000 genomes]
rs1631962	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1660738	0.91[ASN][1000 genomes]
rs1660741	0.91[EUR][1000 genomes]
rs1660742	0.91[EUR][1000 genomes]
rs1767277	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2582979	0.91[ASN][1000 genomes]
rs2788605	0.91[EUR][1000 genomes]
rs4585981	0.91[EUR][1000 genomes]
rs56109009	0.89[EUR][1000 genomes]
rs57480158	0.83[EUR][1000 genomes]
rs57560942	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59729812	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699320	0.91[EUR][1000 genomes]
rs72855716	0.89[EUR][1000 genomes]
rs72855733	0.89[EUR][1000 genomes]
rs72855735	0.91[EUR][1000 genomes]
rs72855745	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72855747	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7550246	0.89[EUR][1000 genomes]
rs767762	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935071	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946277	0.83[EUR][1000 genomes]
rs946278	0.83[EUR][1000 genomes]
rs946279	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1822763	chr1:9847032-9864493	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9843000-9864400	Weak transcription	Stomach Mucosa	stomach
2	chr1:9848200-9860000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:9848600-9864600	Weak transcription	Small Intestine	intestine
4	chr1:9854000-9864600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:9854000-9871600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:9854200-9865200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:9854400-9865200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:9854600-9862800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:9855000-9864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:9856600-9860000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:9856800-9860200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:9857000-9863400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:9857200-9860000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:9857200-9860200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:9857200-9860200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:9857200-9865000	Weak transcription	K562	blood
17	chr1:9857400-9860000	Weak transcription	Dnd41	blood
18	chr1:9857400-9863000	Weak transcription	Psoas Muscle	Psoas
19	chr1:9857400-9864800	Weak transcription	Lung	lung
20	chr1:9857400-9865000	Weak transcription	HepG2	liver
21	chr1:9857400-9865200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:9857600-9867000	Weak transcription	Thymus	Thymus
23	chr1:9857600-9868600	Weak transcription	Spleen	Spleen
24	chr1:9857800-9862200	Weak transcription	Fetal Heart	heart
25	chr1:9857800-9867600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:9858600-9860000	Enhancers	GM12878-XiMat	blood
27	chr1:9858600-9865000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:9858600-9865200	Weak transcription	Fetal Kidney	kidney
29	chr1:9858800-9861800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:9858800-9864600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:9858800-9864600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:9858800-9865200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:9858800-9867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:9859000-9860000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:9859000-9860000	Enhancers	NHEK	skin
36	chr1:9859000-9860200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:9859000-9862000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:9859000-9862800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:9859000-9867800	Weak transcription	Fetal Stomach	stomach
40	chr1:9859000-9870800	Weak transcription	Fetal Brain Female	brain
41	chr1:9859000-9871400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:9859000-9875000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:9859000-9881800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:9859000-9882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:9859200-9862200	Weak transcription	Primary T cells from cord blood	blood
46	chr1:9859200-9863000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:9859200-9863200	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:9859200-9864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:9859200-9864400	Weak transcription	Pancreas	Pancrea
50	chr1:9859200-9864400	Weak transcription	HMEC	breast

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