Variant report

Variant	rs531101709
Chromosome Location	chr6:109761007-109761008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr6:109760986-109762085	K562	blood:	n/a	n/a
2	CTCF	chr6:109760880-109761030	HCPEpiC	choroid plexus:	n/a	n/a
3	MXI1	chr6:109760621-109763112	SK-N-SH	brain:	n/a	chr6:109762145-109762160 chr6:109761832-109761847
4	FOSL2	chr6:109760677-109761114	A549	lung:	n/a	n/a
5	TBP	chr6:109760869-109762954	K562	blood:	n/a	n/a
6	JUND	chr6:109760643-109761063	K562	blood:	n/a	n/a
7	MXI1	chr6:109760770-109762521	Hela-S3	cervix:	n/a	chr6:109762145-109762160 chr6:109761832-109761847
8	UBTF	chr6:109760909-109762895	K562	blood:	n/a	n/a
9	RFX5	chr6:109760761-109761111	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr6:109760772-109761288	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr6:109760888-109762727	IMR90	lung:	n/a	n/a
12	FOS	chr6:109760742-109761192	HUVEC	blood vessel:	n/a	n/a
13	YY1	chr6:109760873-109761046	K562	blood:	n/a	n/a
14	POLR2A	chr6:109759972-109762988	MCF10A-Er-Src	breast:	n/a	n/a
15	JUN	chr6:109760673-109761236	K562	blood:	n/a	n/a
16	POLR2A	chr6:109760757-109761021	Hela-S3	cervix:	n/a	n/a
17	SMC3	chr6:109760785-109761144	Hela-S3	cervix:	n/a	n/a
18	MYC	chr6:109760685-109762935	A549	lung:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
19	MAX	chr6:109760974-109762799	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
20	MAX	chr6:109760825-109762882	Hela-S3	cervix:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
21	POLR2A	chr6:109760717-109762995	K562	blood:	n/a	n/a
22	JUND	chr6:109760662-109761105	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr6:109760703-109761016	K562	blood:	n/a	n/a
24	SIN3A	chr6:109760993-109763013	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr6:109760849-109761188	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:109760869-109761065	HUVEC	blood vessel:	n/a	n/a
27	SMARCB1	chr6:109760655-109762903	Hela-S3	cervix:	n/a	n/a
28	USF2	chr6:109760984-109761326	Hela-S3	cervix:	n/a	n/a
29	TEAD4	chr6:109760734-109761236	K562	blood:	n/a	n/a
30	POLR2A	chr6:109760694-109762951	Hela-S3	cervix:	n/a	n/a
31	TBL1XR1	chr6:109760893-109761456	K562	blood:	n/a	n/a
32	POLR2A	chr6:109760732-109761173	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:109761007-109761152	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:109760844-109762777	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:109747606..109757389-chr6:109757828..109761794,11	K562	blood:
2	chr6:109415348..109417479-chr6:109760287..109762549,2	K562	blood:
3	chr6:109702383..109706611-chr6:109760202..109762116,4	K562	blood:
4	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
5	chr6:109414651..109418067-chr6:109760738..109763991,4	MCF-7	breast:
6	chr6:109702022..109707287-chr6:109760251..109763953,8	MCF-7	breast:
7	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:
8	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
9	chr6:109702065..109705528-chr6:109760483..109765471,8	MCF-7	breast:
10	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
11	chr6:109752212..109757242-chr6:109759553..109764133,7	MCF-7	breast:

No data

Variant related genes	Relation type
SMPD2	TF binding region
ENSG00000185250	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000080546	Chromatin interaction
ENSG00000112365	Chromatin interaction
ENSG00000239160	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	nsv823818	chr6:109757222-109761294	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3344959	chr6:109760484-109763032	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109751200-109761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:109756800-109761400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:109760200-109761600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr6:109760200-109763200	Active TSS	A549	lung
5	chr6:109760400-109761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:109760400-109762400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:109760400-109762400	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:109760400-109762600	Active TSS	Ovary	ovary
9	chr6:109760400-109762600	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:109760400-109762800	Active TSS	Fetal Intestine Small	intestine
11	chr6:109760400-109763400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:109760600-109761200	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:109760600-109761200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:109760600-109761200	Flanking Active TSS	Fetal Brain Female	brain
15	chr6:109760600-109761200	Flanking Active TSS	HSMMtube	muscle
16	chr6:109760600-109761200	Flanking Active TSS	Osteobl	bone
17	chr6:109760600-109761400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:109760600-109761400	Flanking Active TSS	Placenta	Placenta
19	chr6:109760600-109761400	Flanking Active TSS	HSMM	muscle
20	chr6:109760600-109761400	Flanking Active TSS	NHEK	skin
21	chr6:109760600-109761600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr6:109760600-109762400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:109760600-109762400	Active TSS	Colonic Mucosa	Colon
24	chr6:109760600-109762600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:109760600-109762600	Active TSS	Aorta	Aorta
26	chr6:109760600-109762600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:109760600-109762600	Active TSS	Fetal Intestine Large	intestine
28	chr6:109760600-109762800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:109760800-109761200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr6:109760800-109761200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:109760800-109761200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr6:109760800-109761200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr6:109760800-109761200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:109760800-109761200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr6:109760800-109761200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:109760800-109761200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:109760800-109761200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:109760800-109761200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:109760800-109761200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr6:109760800-109761200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:109760800-109761200	Flanking Active TSS	Fetal Brain Male	brain
42	chr6:109760800-109761200	Enhancers	Fetal Heart	heart
43	chr6:109760800-109761200	Flanking Active TSS	Fetal Kidney	kidney
44	chr6:109760800-109761200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr6:109760800-109761200	Flanking Active TSS	Fetal Stomach	stomach
46	chr6:109760800-109761200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:109760800-109761200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:109760800-109761200	Active TSS	Thymus	Thymus
49	chr6:109760800-109761200	Flanking Active TSS	Hela-S3	cervix
50	chr6:109760800-109761200	Flanking Active TSS	HMEC	breast

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