Variant report

Variant	rs62400367
Chromosome Location	chr6:45481873-45481874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11498194	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1319069	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55910744	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56146601	0.81[EUR][1000 genomes]
rs59695096	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61243460	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400363	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62400366	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400368	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400369	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62400374	0.82[AMR][1000 genomes]
rs62400375	0.82[AMR][1000 genomes]
rs62400376	0.82[AMR][1000 genomes];0.81[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45466400-45483400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:45466800-45488200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:45466800-45497200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:45467200-45487800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:45472200-45482400	Weak transcription	Spleen	Spleen
7	chr6:45473000-45482400	Weak transcription	Esophagus	oesophagus
8	chr6:45473000-45482400	Weak transcription	Placenta	Placenta
9	chr6:45473600-45482000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:45473600-45482200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:45473600-45482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:45473600-45482200	Weak transcription	HMEC	breast
13	chr6:45473600-45482600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:45474000-45489000	Weak transcription	Primary T cells from cord blood	blood
15	chr6:45475000-45486000	Strong transcription	HSMM	muscle
16	chr6:45476400-45482000	Weak transcription	Hela-S3	cervix
17	chr6:45478600-45482200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:45478600-45482600	Strong transcription	Dnd41	blood
19	chr6:45479000-45482800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:45479000-45483000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:45479000-45484400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr6:45479000-45500000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:45479200-45482000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:45479200-45483600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:45479200-45485200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:45479400-45482800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:45479400-45483000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:45479400-45483000	Strong transcription	Osteobl	bone
29	chr6:45479600-45482200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr6:45479800-45483000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:45480000-45482000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:45480000-45482000	Strong transcription	NHDF-Ad	bronchial
33	chr6:45480000-45482200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr6:45480000-45482200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:45480000-45482400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:45480000-45482400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:45480000-45482600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr6:45480000-45482600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:45480000-45482600	Strong transcription	NHLF	lung
40	chr6:45480000-45482800	Weak transcription	Brain Anterior Caudate	brain
41	chr6:45480000-45483000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:45480000-45483600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr6:45480000-45484600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr6:45480200-45482200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:45480200-45482200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:45480200-45482800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:45480200-45482800	Strong transcription	Fetal Thymus	thymus
48	chr6:45480200-45484200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:45480200-45488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:45480400-45482400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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