Variant report

Variant	rs11063011
Chromosome Location	chr12:4246975-4246976
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	chr12:4244218..4247672-chr12:4248422..4253383,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10459129	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744631	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774197	0.91[ASN][1000 genomes]
rs10774198	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10848981	0.91[ASN][1000 genomes]
rs10848982	0.91[ASN][1000 genomes]
rs10848985	0.91[ASN][1000 genomes]
rs10848986	0.85[EUR][1000 genomes]
rs10848988	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11063002	0.91[ASN][1000 genomes]
rs11063012	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861175	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1978311	0.87[EUR][1000 genomes]
rs2003578	0.91[ASN][1000 genomes]
rs2003579	0.91[ASN][1000 genomes]
rs6489519	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137733	0.83[EUR][1000 genomes]
rs7304518	0.83[EUR][1000 genomes]
rs759310	0.87[EUR][1000 genomes]
rs7967520	0.91[ASN][1000 genomes]
rs873613	0.91[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:62 , 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	chr12:4241800-4247200	Enhancers	Fetal Muscle Leg	muscle
4	chr12:4242000-4247200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:4242200-4247000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:4242200-4247200	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:4242800-4247000	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:4243200-4247000	Enhancers	Fetal Thymus	thymus
9	chr12:4243200-4247200	Enhancers	Primary B cells from cord blood	blood
10	chr12:4243200-4250600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:4244400-4248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:4244400-4249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:4244600-4247000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:4244800-4253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:4245200-4247000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:4245200-4249600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:4245200-4251800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:4245600-4251600	Weak transcription	NHEK	skin
20	chr12:4245800-4248400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:4245800-4248600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:4245800-4248600	Weak transcription	Thymus	Thymus
23	chr12:4245800-4248600	Weak transcription	Dnd41	blood
24	chr12:4245800-4251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:4245800-4251600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:4245800-4251800	Weak transcription	HSMM	muscle
27	chr12:4245800-4252000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:4245800-4252000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:4246000-4248600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:4246000-4248800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:4246000-4250000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:4246000-4251800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:4246200-4249800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:4246200-4249800	Weak transcription	Fetal Lung	lung
35	chr12:4246200-4251200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:4246200-4251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:4246200-4251600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:4246200-4251600	Weak transcription	Spleen	Spleen
39	chr12:4246400-4249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:4246600-4247200	Enhancers	GM12878-XiMat	blood
41	chr12:4246600-4248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:4246600-4248800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:4246600-4248800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:4246600-4249200	Weak transcription	Fetal Stomach	stomach
45	chr12:4246600-4249600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:4246600-4249600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:4246600-4249600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:4246600-4249800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:4246800-4247000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:4246800-4247000	Enhancers	Monocytes-CD14+_RO01746	blood

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