Variant report

Variant	rs181992466
Chromosome Location	chr6:109805180-109805181
allele	C/T
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	IRF1	chr6:109804297-109805329	K562	blood:	n/a	chr6:109805018-109805031 chr6:109804343-109804357
2	HCFC1	chr6:109803636-109805262	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr6:109803674-109805276	IMR90	lung:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
4	MXI1	chr6:109803160-109805900	SK-N-SH	brain:	n/a	chr6:109804471-109804480 chr6:109804473-109804482 chr6:109804473-109804482
5	MAZ	chr6:109803443-109805739	IMR90	lung:	n/a	chr6:109804472-109804481 chr6:109804472-109804482 chr6:109804471-109804482 chr6:109805428-109805437 chr6:109804467-109804486 chr6:109804471-109804481 chr6:109804471-109804481 chr6:109804471-109804480 chr6:109804472-109804481 chr6:109804472-109804481 chr6:109804468-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804471-109804482 chr6:109804470-109804483 chr6:109804472-109804482 chr6:109804470-109804483
6	POLR2A	chr6:109804762-109805232	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
2	chr6:109804505..109806373-chr6:109808766..109811459,2	K562	blood:
3	chr6:109702597..109705942-chr6:109803330..109806291,3	K562	blood:
4	chr6:31782365..31783340-chr6:109804610..109805551,2	Hela-S3	cervix:
5	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
6	chr6:109703226..109705290-chr6:109802868..109805423,2	K562	blood:
7	chr6:109700978..109703685-chr6:109804896..109807033,2	MCF-7	breast:
8	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
9	chr6:109804488..109806145-chr6:109811754..109813384,2	K562	blood:
10	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223537	TF binding region
ZBTB24	TF binding region
ENSG00000223537	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000204389	Chromatin interaction
ENSG00000185250	Chromatin interaction
ENSG00000135587	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000204390	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3377564	chr6:109803284-109806132	Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	esv3324958	chr6:109803709-109805707	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109803200-109805200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:109803200-109805400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:109803400-109805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:109803400-109805200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:109803400-109805200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:109803400-109805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:109803400-109805200	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr6:109803400-109805200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:109803400-109805200	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:109803400-109805200	Active TSS	Osteobl	bone
11	chr6:109803400-109805400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:109803400-109805400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:109803400-109805400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:109803400-109805400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:109803400-109805400	Active TSS	GM12878-XiMat	blood
16	chr6:109803400-109805400	Active TSS	NHEK	skin
17	chr6:109803400-109805400	Active TSS	NHLF	lung
18	chr6:109803600-109805200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:109803600-109805200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:109803600-109805200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:109803600-109805200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr6:109803600-109805200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr6:109803600-109805200	Active TSS	Brain Hippocampus Middle	brain
24	chr6:109803600-109805200	Active TSS	Colonic Mucosa	Colon
25	chr6:109803600-109805200	Active TSS	Colon Smooth Muscle	Colon
26	chr6:109803600-109805200	Active TSS	Fetal Intestine Large	intestine
27	chr6:109803600-109805200	Active TSS	Placenta	Placenta
28	chr6:109803600-109805200	Active TSS	Fetal Stomach	stomach
29	chr6:109803600-109805200	Active TSS	Psoas Muscle	Psoas
30	chr6:109803600-109805200	Active TSS	Stomach Smooth Muscle	stomach
31	chr6:109803600-109805400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr6:109803600-109805400	Active TSS	Ovary	ovary
33	chr6:109803600-109805400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr6:109803800-109805200	Active TSS	Brain Cingulate Gyrus	brain
35	chr6:109803800-109805200	Active TSS	Left Ventricle	heart
36	chr6:109803800-109805200	Active TSS	Right Atrium	heart
37	chr6:109803800-109805200	Active TSS	Right Ventricle	heart
38	chr6:109803800-109805400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:109804000-109805200	Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:109804000-109805200	Active TSS	Fetal Muscle Leg	muscle
41	chr6:109804000-109805200	Active TSS	Fetal Thymus	thymus
42	chr6:109804000-109805400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:109804000-109805400	Active TSS	Fetal Muscle Trunk	muscle
44	chr6:109804200-109805200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr6:109804200-109805400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:109804400-109805200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr6:109804400-109805200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:109804400-109805400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:109804400-109814200	Weak transcription	Gastric	stomach
50	chr6:109804800-109805200	Flanking Active TSS	Primary B cells from peripheral blood	blood

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