Variant report

Variant	rs6489519
Chromosome Location	chr12:4245002-4245003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4242954..4245466-chr12:4380001..4382165,3	K562	blood:
2	chr12:4244497..4246706-chr12:4251170..4253999,2	K562	blood:
3	chr12:4244218..4247672-chr12:4248422..4253383,4	K562	blood:
4	chr12:4235187..4238006-chr12:4244480..4246170,2	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	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10744631	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774197	0.93[ASN][1000 genomes]
rs10774198	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10848981	0.93[ASN][1000 genomes]
rs10848982	0.93[ASN][1000 genomes]
rs10848985	0.93[ASN][1000 genomes]
rs10848986	0.85[EUR][1000 genomes]
rs10848988	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11063002	0.93[ASN][1000 genomes]
rs11063011	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11063012	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861175	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1978311	0.87[EUR][1000 genomes]
rs2003578	0.93[ASN][1000 genomes]
rs2003579	0.93[ASN][1000 genomes]
rs7137733	0.83[EUR][1000 genomes]
rs7304518	0.83[EUR][1000 genomes]
rs759310	0.87[EUR][1000 genomes]
rs7967520	0.93[ASN][1000 genomes]
rs873613	0.93[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4240800-4245400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:4241000-4248400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:4241800-4247200	Enhancers	Fetal Muscle Leg	muscle
5	chr12:4242000-4247200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:4242200-4246000	Enhancers	Placenta	Placenta
7	chr12:4242200-4246600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:4242200-4246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:4242200-4247000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:4242200-4247200	Enhancers	Fetal Muscle Trunk	muscle
11	chr12:4242600-4246600	Enhancers	Fetal Stomach	stomach
12	chr12:4242800-4245400	Enhancers	GM12878-XiMat	blood
13	chr12:4242800-4246200	Enhancers	Fetal Lung	lung
14	chr12:4242800-4247000	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:4243000-4246600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:4243200-4246200	Enhancers	Spleen	Spleen
17	chr12:4243200-4246600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:4243200-4247000	Enhancers	Fetal Thymus	thymus
19	chr12:4243200-4247200	Enhancers	Primary B cells from cord blood	blood
20	chr12:4243200-4250600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:4243400-4245200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:4243400-4245200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:4243400-4245400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:4243400-4246800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:4243600-4245200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:4243600-4245400	Weak transcription	Fetal Brain Male	brain
27	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:4244000-4245200	Weak transcription	HSMMtube	muscle
29	chr12:4244000-4245400	Weak transcription	Adipose Nuclei	Adipose
30	chr12:4244200-4245200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:4244200-4245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:4244200-4245400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:4244200-4246000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:4244200-4246600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:4244400-4245400	Weak transcription	Fetal Heart	heart
36	chr12:4244400-4245400	Weak transcription	Fetal Kidney	kidney
37	chr12:4244400-4245400	Weak transcription	Right Atrium	heart
38	chr12:4244400-4245600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:4244400-4245600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:4244400-4245600	Weak transcription	Right Ventricle	heart
41	chr12:4244400-4245800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:4244400-4246600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:4244400-4246600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:4244400-4246800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:4244400-4248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr12:4244400-4249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:4244600-4246200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr12:4244600-4246400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:4244600-4246800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:4244600-4247000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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