Variant report

Variant	rs73519448
Chromosome Location	chr6:119147005-119147006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119146807..119149048-chr6:119151965..119154852,2	K562	blood:
2	chr6:119146378..119148899-chr6:119149266..119150978,2	K562	blood:

Variant related genes	Relation type
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1334651	1.00[EUR][1000 genomes]
rs1334923	1.00[EUR][1000 genomes]
rs1413907	1.00[EUR][1000 genomes]
rs1688637	1.00[EUR][1000 genomes]
rs1762192	1.00[EUR][1000 genomes]
rs2000111	1.00[EUR][1000 genomes]
rs2638540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797353	1.00[EUR][1000 genomes]
rs2797354	1.00[EUR][1000 genomes]
rs284917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2884001	1.00[EUR][1000 genomes]
rs59547233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60554369	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6903032	1.00[EUR][1000 genomes]
rs6907441	1.00[EUR][1000 genomes]
rs6914241	1.00[EUR][1000 genomes]
rs73519453	1.00[EUR][1000 genomes]
rs73519455	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73521373	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73521381	1.00[EUR][1000 genomes]
rs73523318	1.00[EUR][1000 genomes]
rs73523320	1.00[EUR][1000 genomes]
rs73523339	1.00[EUR][1000 genomes]
rs73523343	1.00[EUR][1000 genomes]
rs73523351	1.00[EUR][1000 genomes]
rs73523361	1.00[EUR][1000 genomes]
rs73523365	1.00[EUR][1000 genomes]
rs7751545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs794265	1.00[EUR][1000 genomes]
rs9372513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9401100	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	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119128600-119151600	Weak transcription	Colonic Mucosa	Colon
2	chr6:119132200-119150600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:119132400-119150800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:119133400-119148000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:119133400-119151800	Weak transcription	Fetal Kidney	kidney
6	chr6:119134000-119150600	Weak transcription	Hela-S3	cervix
7	chr6:119135200-119150600	Weak transcription	NHLF	lung
8	chr6:119135400-119149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:119135400-119150200	Weak transcription	Brain Substantia Nigra	brain
10	chr6:119135400-119151000	Weak transcription	NH-A	brain
11	chr6:119135400-119151400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:119135800-119151000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:119137200-119149000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:119137400-119148800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:119137400-119149000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:119137600-119147600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:119137800-119149000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:119138000-119150800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:119142800-119150400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:119143000-119150400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:119143200-119147800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:119143200-119150400	Weak transcription	Fetal Brain Male	brain
23	chr6:119143200-119151000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:119143400-119150400	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:119143400-119150400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:119143400-119150400	Strong transcription	Fetal Intestine Large	intestine
27	chr6:119143400-119151200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:119143600-119150400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:119143600-119150400	Strong transcription	Aorta	Aorta
30	chr6:119143600-119150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:119143600-119150600	Strong transcription	Dnd41	blood
32	chr6:119143600-119150800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:119143600-119150800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:119143800-119147400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:119143800-119149600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:119144000-119150800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:119144200-119150400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:119144200-119154400	Weak transcription	Brain Germinal Matrix	brain
39	chr6:119144600-119147400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:119144600-119150800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:119144600-119151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:119144800-119148800	Weak transcription	Fetal Lung	lung
43	chr6:119144800-119152000	Weak transcription	Spleen	Spleen
44	chr6:119144800-119160400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:119144800-119173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:119145600-119150400	Strong transcription	Liver	Liver
47	chr6:119145600-119150400	Strong transcription	Ovary	ovary
48	chr6:119145800-119149600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:119145800-119149800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:119145800-119150400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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