Variant report

Variant	rs10848986
Chromosome Location	chr12:4248240-4248241
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10459129	0.82[EUR][1000 genomes]
rs10744631	0.83[EUR][1000 genomes]
rs10774198	0.91[EUR][1000 genomes]
rs10848988	0.92[EUR][1000 genomes]
rs11063011	0.85[EUR][1000 genomes]
rs11063012	0.82[EUR][1000 genomes]
rs11063013	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12230013	0.86[ASN][1000 genomes]
rs12579813	0.86[ASN][1000 genomes]
rs1861175	0.92[EUR][1000 genomes]
rs1978311	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2160161	0.86[ASN][1000 genomes]
rs2358837	0.83[ASN][1000 genomes]
rs3889565	0.81[ASN][1000 genomes]
rs4766209	0.86[ASN][1000 genomes]
rs58334161	0.86[ASN][1000 genomes]
rs60789908	0.83[ASN][1000 genomes]
rs6489519	0.85[EUR][1000 genomes]
rs7137733	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7298905	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7304518	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs759310	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9634153	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4241000-4248400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:4243200-4250600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4244400-4248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:4244400-4249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:4244800-4253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:4245200-4249600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:4245200-4251800	Weak transcription	Fetal Intestine Large	intestine
10	chr12:4245600-4251600	Weak transcription	NHEK	skin
11	chr12:4245800-4248400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:4245800-4248600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:4245800-4248600	Weak transcription	Thymus	Thymus
14	chr12:4245800-4248600	Weak transcription	Dnd41	blood
15	chr12:4245800-4251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:4245800-4251600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr12:4245800-4251800	Weak transcription	HSMM	muscle
18	chr12:4245800-4252000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:4245800-4252000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:4246000-4248600	Weak transcription	Primary T cells from cord blood	blood
21	chr12:4246000-4248800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:4246000-4250000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:4246000-4251800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:4246200-4249800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:4246200-4249800	Weak transcription	Fetal Lung	lung
26	chr12:4246200-4251200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:4246200-4251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:4246200-4251600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:4246200-4251600	Weak transcription	Spleen	Spleen
30	chr12:4246400-4249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:4246600-4248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:4246600-4248800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:4246600-4248800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:4246600-4249200	Weak transcription	Fetal Stomach	stomach
35	chr12:4246600-4249600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:4246600-4249600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:4246600-4249600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:4246600-4249800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:4246800-4248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:4246800-4248600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:4246800-4248600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:4246800-4249000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:4246800-4249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:4246800-4249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:4246800-4249200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:4246800-4249200	Weak transcription	Brain Germinal Matrix	brain
47	chr12:4246800-4249600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:4246800-4249600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:4246800-4251200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:4246800-4257600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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