Variant report

Variant	rs146166888
Chromosome Location	chr6:74020359-74020360
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:74020145-74020515	GM12878	blood:	n/a	n/a
2	FOXM1	chr6:74019432-74020377	GM12878	blood:	n/a	n/a
3	CTCF	chr6:74019665-74020428	SK-N-SH	brain:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
4	CTCF	chr6:74018747-74020427	A549	lung:	n/a	chr6:74019106-74019116 chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
5	SPI1	chr6:74020208-74020469	K562	blood:	n/a	n/a
6	SPI1	chr6:74020160-74020470	GM12891	blood:	n/a	n/a
7	SPI1	chr6:74019779-74020723	GM12878	blood:	n/a	n/a
8	SPI1	chr6:74020230-74020421	GM12878	blood:	n/a	n/a
9	SPI1	chr6:74020103-74020510	GM12891	blood:	n/a	n/a
10	RCOR1	chr6:74018745-74020413	K562	blood:	n/a	n/a
11	CTCF	chr6:74019788-74020362	GM12878	blood:	n/a	chr6:74020150-74020163 chr6:74020153-74020162 chr6:74020147-74020160
12	SPI1	chr6:74020170-74020446	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:74018617..74020402-chr6:74229038..74231578,2	K562	blood:
2	chr6:74019132..74021037-chr6:74035102..74038001,2	MCF-7	breast:
3	chr6:74019175..74020751-chr6:74101665..74105754,3	MCF-7	breast:
4	chr1:24285827..24286696-chr6:74019562..74020370,2	Hela-S3	cervix:

Variant related genes	Relation type
KHDC1	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000226840	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000189266	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
3	nsv966628	chr6:74020000-74034657	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74016200-74020400	Active TSS	Hela-S3	cervix
2	chr6:74017200-74020800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:74018200-74020400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:74018200-74020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr6:74018400-74020400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:74018400-74020400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:74018400-74020400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:74018400-74020600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:74018400-74020600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:74018400-74020600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:74018600-74020400	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:74018600-74020400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:74018600-74020400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:74018600-74020400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:74018600-74020400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:74018600-74020400	Flanking Active TSS	Fetal Thymus	thymus
17	chr6:74018600-74020400	Active TSS	A549	lung
18	chr6:74018600-74020600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:74018600-74020600	Active TSS	Brain Germinal Matrix	brain
20	chr6:74018600-74020600	Active TSS	Fetal Brain Female	brain
21	chr6:74018800-74020400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:74018800-74020400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:74018800-74020400	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr6:74018800-74020400	Active TSS	NHDF-Ad	bronchial
25	chr6:74018800-74020400	Active TSS	NHLF	lung
26	chr6:74018800-74020600	Active TSS	Brain Angular Gyrus	brain
27	chr6:74018800-74020600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:74018800-74020600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr6:74019000-74020400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:74019000-74020400	Active TSS	Brain Anterior Caudate	brain
31	chr6:74019000-74020400	Active TSS	Fetal Heart	heart
32	chr6:74019000-74020400	Active TSS	Fetal Kidney	kidney
33	chr6:74019000-74020400	Active TSS	Rectal Smooth Muscle	rectum
34	chr6:74019000-74020600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:74019000-74020600	Active TSS	Brain Substantia Nigra	brain
36	chr6:74019000-74020600	Active TSS	Fetal Lung	lung
37	chr6:74019000-74020600	Active TSS	Ovary	ovary
38	chr6:74019200-74020400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:74019200-74020400	Active TSS	Aorta	Aorta
40	chr6:74019200-74020400	Active TSS	Colon Smooth Muscle	Colon
41	chr6:74019200-74020400	Flanking Active TSS	Right Ventricle	heart
42	chr6:74019200-74020400	Active TSS	HSMMtube	muscle
43	chr6:74019200-74020400	Active TSS	K562	blood
44	chr6:74019200-74020400	Active TSS	Osteobl	bone
45	chr6:74019200-74020600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:74019200-74020800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr6:74019400-74020400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr6:74019400-74020400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:74019400-74020400	Active TSS	Fetal Brain Male	brain
50	chr6:74019400-74020400	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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