Variant report

Variant	rs6819696
Chromosome Location	chr4:48373287-48373288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48369922..48371901-chr4:48372726..48375719,2	MCF-7	breast:
2	chr4:48372818..48374345-chr4:48380268..48382079,2	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13101954	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13142082	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1352432	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1466631	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844149	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2029347	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291476	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28840724	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34239305	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34380340	0.80[AFR][1000 genomes]
rs35265097	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35963236	0.92[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36157430	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs366168	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs375259	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs384885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs393338	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3943122	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs397257	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs401463	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs409911	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4694894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4695374	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089943	0.80[AFR][1000 genomes]
rs565234	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs565385	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62309450	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62311260	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6447629	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66671150	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6819847	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73246021	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73246023	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48350000-48375800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:48355000-48376600	Weak transcription	Primary B cells from cord blood	blood
3	chr4:48355000-48380000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
5	chr4:48355200-48377600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:48355200-48379800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:48355800-48390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:48357200-48384600	Weak transcription	Lung	lung
9	chr4:48359200-48384400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:48361000-48384600	Weak transcription	Fetal Stomach	stomach
11	chr4:48362600-48378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:48362600-48378200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:48362600-48384600	Weak transcription	Left Ventricle	heart
14	chr4:48363000-48377600	Weak transcription	Psoas Muscle	Psoas
15	chr4:48363000-48380000	Weak transcription	Fetal Lung	lung
16	chr4:48363000-48384600	Weak transcription	Ovary	ovary
17	chr4:48363200-48376600	Weak transcription	A549	lung
18	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
19	chr4:48363600-48377600	Weak transcription	Osteobl	bone
20	chr4:48363600-48382600	Weak transcription	Fetal Brain Male	brain
21	chr4:48363600-48382800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr4:48364000-48377400	Weak transcription	NHDF-Ad	bronchial
23	chr4:48364000-48381400	Weak transcription	Fetal Heart	heart
24	chr4:48364200-48377600	Weak transcription	NH-A	brain
25	chr4:48364200-48381800	Weak transcription	Adipose Nuclei	Adipose
26	chr4:48364400-48377000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:48368400-48374400	Weak transcription	Primary T cells from cord blood	blood
28	chr4:48368600-48384600	Weak transcription	Thymus	Thymus
29	chr4:48368800-48384600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:48369200-48373800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:48369400-48377600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:48369400-48377600	Weak transcription	Colonic Mucosa	Colon
33	chr4:48369600-48374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:48369600-48376600	Weak transcription	Stomach Mucosa	stomach
35	chr4:48369600-48377400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:48369600-48377400	Weak transcription	HMEC	breast
37	chr4:48369600-48382600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:48370200-48376200	Weak transcription	Esophagus	oesophagus
39	chr4:48371400-48376600	Weak transcription	NHEK	skin
40	chr4:48371400-48395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:48371600-48373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:48371600-48376200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:48371600-48376600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:48371600-48377400	Weak transcription	HUVEC	blood vessel
45	chr4:48371600-48377600	Weak transcription	NHLF	lung
46	chr4:48371600-48377800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:48371600-48379600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:48371800-48374600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48371800-48377800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:48372000-48379600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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