Variant report

Variant	rs73778379
Chromosome Location	chr6:144996959-144996960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56388113	1.00[AMR][1000 genomes]
rs58413349	1.00[AMR][1000 genomes]
rs6899827	1.00[AMR][1000 genomes]
rs6904051	1.00[AMR][1000 genomes]
rs6926495	1.00[AMR][1000 genomes]
rs6937108	1.00[AMR][1000 genomes]
rs73778380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781916	1.00[AMR][1000 genomes]
rs73781917	1.00[AMR][1000 genomes]
rs7743704	1.00[AMR][1000 genomes]
rs7750421	1.00[AMR][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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv604822	chr6:144968195-145001887	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144981200-145031000	Weak transcription	Placenta	Placenta
2	chr6:144982800-145010000	Weak transcription	Fetal Stomach	stomach
3	chr6:144983000-145024600	Weak transcription	Fetal Kidney	kidney
4	chr6:144985000-145004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:144986200-145002000	Weak transcription	Small Intestine	intestine
6	chr6:144993000-145000800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:144995000-144999600	Weak transcription	HepG2	liver
8	chr6:144995400-145002000	Weak transcription	Primary T cells from cord blood	blood
9	chr6:144995600-144997000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:144995600-144997000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:144995600-144997000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr6:144995600-144998400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:144995800-144997000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:144995800-145001800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:144996000-144997000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:144996000-144997000	Flanking Active TSS	Dnd41	blood
17	chr6:144996000-145000000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:144996000-145010000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:144996200-144997000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:144996200-144997000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:144996200-144997000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:144996200-144997000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr6:144996200-144997000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:144996200-144997000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:144996200-144997000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr6:144996200-144997000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:144996200-144997000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:144996200-144997000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:144996200-144997000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:144996200-144997000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:144996200-144997000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:144996200-144997000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:144996200-144997000	Enhancers	Esophagus	oesophagus
34	chr6:144996200-144997000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr6:144996200-144997000	Enhancers	Fetal Muscle Leg	muscle
36	chr6:144996200-144997000	Enhancers	Gastric	stomach
37	chr6:144996200-144997000	Enhancers	Psoas Muscle	Psoas
38	chr6:144996200-144997000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:144996200-144997000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:144996200-144997000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:144996200-144997000	Enhancers	Spleen	Spleen
42	chr6:144996200-144997000	Enhancers	HMEC	breast
43	chr6:144996200-144997000	Enhancers	HSMM	muscle
44	chr6:144996200-144997000	Enhancers	NHDF-Ad	bronchial
45	chr6:144996200-144997000	Enhancers	NHEK	skin
46	chr6:144996200-144997000	Flanking Active TSS	Osteobl	bone
47	chr6:144996200-144997200	Enhancers	NHLF	lung
48	chr6:144996400-144997000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:144996400-144997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:144996400-144997000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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