Variant report

Variant	rs61310654
Chromosome Location	chr4:144140713-144140714
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144129425..144131595-chr4:144140468..144141998,2	K562	blood:
2	chr4:144135439..144138168-chr4:144138686..144140969,3	K562	blood:
3	chr4:144135439..144137101-chr4:144138686..144140840,2	K562	blood:
4	chr4:144138937..144141049-chr4:144142588..144145133,2	K562	blood:
5	chr4:144130095..144132510-chr4:144139242..144141968,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10519682	1.00[AMR][1000 genomes]
rs11944825	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945757	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1440409	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017390	1.00[AMR][1000 genomes]
rs17017397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017481	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017495	1.00[AMR][1000 genomes]
rs17017555	1.00[AMR][1000 genomes]
rs17017571	1.00[AMR][1000 genomes]
rs4132265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58337819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58547743	1.00[AMR][1000 genomes]
rs7677238	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr4:144109200-144142800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:144110200-144145600	Weak transcription	Stomach Mucosa	stomach
3	chr4:144118400-144142600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:144118400-144142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:144118400-144143000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:144118400-144150000	Weak transcription	Aorta	Aorta
7	chr4:144119400-144144400	Weak transcription	Hela-S3	cervix
8	chr4:144120600-144142800	Weak transcription	Spleen	Spleen
9	chr4:144120600-144147000	Weak transcription	Esophagus	oesophagus
10	chr4:144120800-144149400	Weak transcription	Pancreas	Pancrea
11	chr4:144122400-144145600	Weak transcription	Right Ventricle	heart
12	chr4:144122800-144144600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:144122800-144145800	Weak transcription	Colonic Mucosa	Colon
14	chr4:144125800-144155600	Weak transcription	Fetal Stomach	stomach
15	chr4:144126000-144142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:144126600-144142800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:144126600-144146200	Weak transcription	A549	lung
18	chr4:144128200-144148600	Weak transcription	K562	blood
19	chr4:144133400-144142800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:144133600-144145400	Weak transcription	NHDF-Ad	bronchial
21	chr4:144135200-144144200	Weak transcription	Ovary	ovary
22	chr4:144135200-144145400	Weak transcription	Gastric	stomach
23	chr4:144135200-144145600	Weak transcription	Small Intestine	intestine
24	chr4:144135200-144146600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:144135200-144151400	Weak transcription	Lung	lung
26	chr4:144135400-144143800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:144135800-144141400	Weak transcription	HUVEC	blood vessel
28	chr4:144135800-144143800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:144135800-144145200	Weak transcription	HepG2	liver
30	chr4:144135800-144146200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:144135800-144148000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:144135800-144151400	Weak transcription	Left Ventricle	heart
33	chr4:144135800-144153400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:144136000-144142800	Weak transcription	Primary T cells from cord blood	blood
35	chr4:144136000-144142800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:144136000-144142800	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:144136000-144142800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:144136000-144143000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:144136000-144143000	Weak transcription	NHLF	lung
40	chr4:144136000-144145600	Weak transcription	Fetal Intestine Large	intestine
41	chr4:144136000-144145600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:144136000-144148200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:144136000-144148200	Weak transcription	Brain Germinal Matrix	brain
44	chr4:144136000-144148400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:144136000-144149200	Weak transcription	Psoas Muscle	Psoas
46	chr4:144136000-144149600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:144136000-144149600	Weak transcription	Thymus	Thymus
48	chr4:144136200-144140800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:144136200-144142600	Weak transcription	HMEC	breast
50	chr4:144136200-144143000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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