Variant report

Variant	rs12433998
Chromosome Location	chr14:68226303-68226304
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	chr14:68224045..68225804-chr14:68225977..68227685,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10782455	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11158691	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158692	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622772	0.92[ASN][1000 genomes]
rs12435035	0.90[ASN][1000 genomes]
rs12879105	0.81[ASN][1000 genomes]
rs12881478	0.99[ASN][1000 genomes]
rs3825726	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs742868	0.88[ASN][1000 genomes]
rs9449	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
2	chr14:68206200-68251000	Weak transcription	K562	blood
3	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
4	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:68212800-68229800	Strong transcription	Fetal Intestine Large	intestine
6	chr14:68213000-68229800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:68213200-68229800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:68213600-68229200	Strong transcription	Placenta	Placenta
14	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:68213800-68228800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:68213800-68280600	Strong transcription	Liver	Liver
18	chr14:68214000-68232000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
20	chr14:68214600-68232800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:68214600-68281000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:68214800-68266800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:68214800-68276200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:68214800-68280200	Strong transcription	Fetal Thymus	thymus
25	chr14:68216600-68267200	Strong transcription	Fetal Stomach	stomach
26	chr14:68218600-68236400	Strong transcription	GM12878-XiMat	blood
27	chr14:68220000-68251200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr14:68220200-68232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:68220200-68273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:68220400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:68220600-68227600	Weak transcription	Fetal Heart	heart
32	chr14:68221200-68227200	Weak transcription	Small Intestine	intestine
33	chr14:68221400-68226800	Weak transcription	Psoas Muscle	Psoas
34	chr14:68221400-68227600	Weak transcription	A549	lung
35	chr14:68221600-68226400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:68221600-68227600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:68221600-68227600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:68221600-68233800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:68221800-68226400	Weak transcription	Brain Angular Gyrus	brain
40	chr14:68221800-68226400	Weak transcription	HUVEC	blood vessel
41	chr14:68221800-68226600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:68221800-68226800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:68221800-68226800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:68221800-68227000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:68221800-68229000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr14:68222000-68227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:68222000-68227000	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:68222200-68226400	Weak transcription	Ovary	ovary
49	chr14:68222200-68226800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:68222200-68227000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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