Variant report

Variant	rs6448489
Chromosome Location	chr4:27018583-27018584
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	chr4:27017252..27018946-chr4:27020943..27022633,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10028164	0.88[AMR][1000 genomes]
rs4140681	0.88[AMR][1000 genomes]
rs4599399	0.88[AMR][1000 genomes]
rs4692016	0.88[AMR][1000 genomes]
rs4692017	0.88[AMR][1000 genomes]
rs4692135	0.83[AMR][1000 genomes]
rs4692138	0.88[AMR][1000 genomes]
rs6448490	1.00[ASN][1000 genomes]
rs7670520	0.88[AMR][1000 genomes]
rs7688601	0.88[AMR][1000 genomes]
rs887792	0.88[AMR][1000 genomes]
rs9790760	0.88[AMR][1000 genomes]
rs9994911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26978400-27019200	Weak transcription	Fetal Intestine Small	intestine
2	chr4:26980400-27019400	Weak transcription	Left Ventricle	heart
3	chr4:26985400-27019400	Weak transcription	Esophagus	oesophagus
4	chr4:26989400-27024800	Weak transcription	Psoas Muscle	Psoas
5	chr4:26989600-27027000	Weak transcription	HepG2	liver
6	chr4:26995000-27019000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:26995000-27028200	Weak transcription	Pancreas	Pancrea
8	chr4:26996400-27026200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:26996600-27019200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:26996800-27019200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:26997400-27019200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:27001200-27029600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:27001600-27019000	Weak transcription	Spleen	Spleen
14	chr4:27002000-27019200	Weak transcription	Lung	lung
15	chr4:27002000-27019200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:27002800-27026000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:27004200-27027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:27004800-27025000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:27005000-27019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:27005600-27019200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:27005600-27019600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:27005600-27021800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:27005800-27019400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:27005800-27019400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:27005800-27019400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr4:27006000-27019200	Weak transcription	HMEC	breast
27	chr4:27006000-27020200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:27006400-27019400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:27006400-27024200	Weak transcription	Small Intestine	intestine
30	chr4:27006600-27026000	Weak transcription	Fetal Kidney	kidney
31	chr4:27006800-27019200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:27007000-27025800	Weak transcription	Placenta	Placenta
33	chr4:27007800-27025200	Weak transcription	K562	blood
34	chr4:27007800-27026200	Weak transcription	Gastric	stomach
35	chr4:27008000-27024200	Weak transcription	Brain Substantia Nigra	brain
36	chr4:27008400-27019400	Weak transcription	Brain Angular Gyrus	brain
37	chr4:27008400-27019400	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:27008600-27019200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:27009600-27026000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:27011400-27019000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:27011400-27019200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:27011400-27019200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:27011400-27019200	Weak transcription	Thymus	Thymus
44	chr4:27011400-27019200	Weak transcription	GM12878-XiMat	blood
45	chr4:27011400-27019400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:27011400-27019400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:27011400-27019400	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:27011400-27019400	Weak transcription	HSMMtube	muscle
49	chr4:27011400-27020200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:27011600-27019000	Weak transcription	Monocytes-CD14+_RO01746	blood

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