Variant report

Variant	rs60891069
Chromosome Location	chr4:48377288-48377289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:48377280-48377855	SH-SY5Y	brain:	n/a	chr4:48377434-48377442 chr4:48377519-48377530
2	GATA3	chr4:48377110-48378315	SK-N-SH	brain:	n/a	chr4:48377434-48377442 chr4:48377519-48377530
3	E2F4	chr4:48377286-48377506	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48375599..48377309-chr4:48383332..48385949,2	K562	blood:
2	chr4:48342254..48344251-chr4:48376571..48378779,2	MCF-7	breast:

Variant related genes	Relation type
SLAIN2	TF binding region
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10517225	0.86[EUR][1000 genomes]
rs11932126	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13134960	0.86[EUR][1000 genomes]
rs1565218	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1565221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861344	0.86[EUR][1000 genomes]
rs16861347	0.86[EUR][1000 genomes]
rs17609521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609535	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	0.86[EUR][1000 genomes]
rs17609761	0.86[EUR][1000 genomes]
rs17655725	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171577	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581223	0.86[EUR][1000 genomes]
rs4695378	0.95[EUR][1000 genomes]
rs55730515	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55986500	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56932035	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57676508	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58038882	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58244627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707818	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6810911	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6847014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73814762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814763	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814782	0.86[EUR][1000 genomes]
rs7693468	0.92[AMR][1000 genomes];1.00[EUR][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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48355000-48380000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
3	chr4:48355200-48377600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:48355200-48379800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:48355800-48390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:48357200-48384600	Weak transcription	Lung	lung
7	chr4:48359200-48384400	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:48361000-48384600	Weak transcription	Fetal Stomach	stomach
9	chr4:48362600-48378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:48362600-48378200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:48362600-48384600	Weak transcription	Left Ventricle	heart
12	chr4:48363000-48377600	Weak transcription	Psoas Muscle	Psoas
13	chr4:48363000-48380000	Weak transcription	Fetal Lung	lung
14	chr4:48363000-48384600	Weak transcription	Ovary	ovary
15	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
16	chr4:48363600-48377600	Weak transcription	Osteobl	bone
17	chr4:48363600-48382600	Weak transcription	Fetal Brain Male	brain
18	chr4:48363600-48382800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:48364000-48377400	Weak transcription	NHDF-Ad	bronchial
20	chr4:48364000-48381400	Weak transcription	Fetal Heart	heart
21	chr4:48364200-48377600	Weak transcription	NH-A	brain
22	chr4:48364200-48381800	Weak transcription	Adipose Nuclei	Adipose
23	chr4:48368600-48384600	Weak transcription	Thymus	Thymus
24	chr4:48368800-48384600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:48369400-48377600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr4:48369400-48377600	Weak transcription	Colonic Mucosa	Colon
27	chr4:48369600-48377400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:48369600-48377400	Weak transcription	HMEC	breast
29	chr4:48369600-48382600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:48371400-48395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:48371600-48377400	Weak transcription	HUVEC	blood vessel
32	chr4:48371600-48377600	Weak transcription	NHLF	lung
33	chr4:48371600-48377800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:48371600-48379600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:48371800-48377800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:48372000-48379600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:48372000-48380600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:48372000-48384200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:48372200-48377600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:48372200-48380800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:48372600-48377800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:48372600-48377800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:48372600-48380000	Weak transcription	Brain Angular Gyrus	brain
44	chr4:48372600-48387000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
46	chr4:48372800-48377600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:48372800-48377600	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:48372800-48377800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:48372800-48379600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:48372800-48379800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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