Variant report

Variant	rs72945999
Chromosome Location	chr6:74017164-74017165
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74012200-74019242..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
2	6:74012200-74019242..6:74062967-74076046	Hela-S3	cervix:
3	chr6:74010598..74017256-chr6:74017490..74021575,10	K562	blood:

Variant related genes	Relation type
ENSG00000231332	Chromatin interaction
ENSG00000135314	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000203909	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59126262	0.81[ASN][1000 genomes]
rs59378494	0.81[ASN][1000 genomes]
rs73462545	0.81[ASN][1000 genomes]
rs73462547	0.81[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv518874	chr6:74014468-74041424	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:73973600-74018600	Weak transcription	A549	lung
3	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:73974000-74018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:73983800-74018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:73984400-74018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:73989000-74017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:73994200-74018600	Weak transcription	Stomach Mucosa	stomach
9	chr6:74001000-74017200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:74005200-74018600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:74007800-74017400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:74008800-74018400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:74009000-74018400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:74009400-74017200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:74009400-74017200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:74009400-74017200	Weak transcription	Fetal Thymus	thymus
17	chr6:74009400-74017200	Weak transcription	Pancreas	Pancrea
18	chr6:74009400-74017400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:74009400-74018400	Weak transcription	Fetal Lung	lung
20	chr6:74009400-74019000	Weak transcription	Right Atrium	heart
21	chr6:74009600-74017200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:74009600-74017400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:74009600-74017400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:74009600-74017400	Weak transcription	Osteobl	bone
25	chr6:74009600-74018600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:74009600-74018600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:74009600-74018600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:74009600-74018600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:74009600-74018600	Weak transcription	NHLF	lung
30	chr6:74009800-74018800	Weak transcription	Ovary	ovary
31	chr6:74009800-74018800	Weak transcription	Spleen	Spleen
32	chr6:74010000-74018400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:74010000-74018600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:74010000-74018800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:74010000-74018800	Weak transcription	Thymus	Thymus
36	chr6:74010600-74018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:74012400-74017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:74012600-74018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:74014200-74017400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:74014200-74018800	Weak transcription	Primary B cells from cord blood	blood
41	chr6:74014400-74018800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:74016000-74017600	Enhancers	Fetal Brain Male	brain
43	chr6:74016200-74017200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:74016200-74017200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:74016200-74017400	Weak transcription	Gastric	stomach
46	chr6:74016200-74018600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:74016200-74018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:74016200-74020400	Active TSS	Hela-S3	cervix
49	chr6:74016400-74017200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:74016600-74017600	Enhancers	Brain Germinal Matrix	brain

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