Variant report

Variant	rs41264941
Chromosome Location	chr1:155291777-155291778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155291640-155291790	GM12870	blood:	n/a	n/a
2	POLR2A	chr1:155285762-155295040	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:155289618-155291946	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:155287588-155292287	HL-60	blood:	n/a	n/a
5	POLR2A	chr1:155287550-155292168	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr1:155286497-155292073	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr1:155287495-155292212	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:155287514-155291951	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:155290258-155291887	ProgFib	skin:	n/a	n/a
10	POLR2A	chr1:155285720-155292259	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr1:155287685-155291891	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:155289172-155292119	K562	blood:	n/a	n/a
13	POLR2A	chr1:155289133-155292282	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr1:155291692-155292047	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:155286517-155292132	K562	blood:	n/a	n/a
16	CTCF	chr1:155291720-155291870	HCPEpiC	choroid plexus:	n/a	n/a
17	POLR2A	chr1:155286610-155292157	K562	blood:	n/a	n/a
18	POLR2A	chr1:155287248-155291990	PFSK-1	brain:	n/a	n/a
19	MXI1	chr1:155289939-155295400	SK-N-SH	brain:	n/a	n/a
20	ZNF263	chr1:155291581-155292550	HEK293-T-REx	kidney:	n/a	n/a
21	POLR2A	chr1:155291599-155292079	A549	lung:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
2	chr1:155218380..155223571-chr1:155290636..155294325,6	K562	blood:
3	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
4	chr1:155213696..155217007-chr1:155289069..155291862,3	K562	blood:
5	chr1:155161236..155164985-chr1:155290580..155295192,7	K562	blood:
6	chr1:155240682..155244991-chr1:155289682..155296120,12	MCF-7	breast:
7	chr1:155218456..155235751-chr1:155288837..155299195,44	MCF-7	breast:
8	chr1:155175738..155179299-chr1:155291621..155295870,7	K562	blood:
9	chr1:155213260..155215992-chr1:155291631..155293665,2	K562	blood:
10	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
11	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
12	chr1:155257657..155259293-chr1:155291088..155293098,2	MCF-7	breast:
13	chr1:155229082..155234937-chr1:155291248..155296864,8	K562	blood:
14	chr1:155239314..155245036-chr1:155288379..155297041,21	MCF-7	breast:
15	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
16	chr1:155290471..155293068-chr1:155560702..155562665,2	MCF-7	breast:
17	chr1:155218380..155222913-chr1:155290636..155299650,10	K562	blood:

No data

Variant related genes	Relation type
RUSC1	TF binding region
RUSC1-AS1	TF binding region
ENSG00000160767	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000223503	Chromatin interaction
ENSG00000176444	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000116521	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs41264939	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
4	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
5	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
6	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
8	nsv946413	chr1:155286949-155296660	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155287800-155293200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:155289200-155292000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:155289800-155292000	Transcr. at gene 5' and 3'	NHLF	lung
4	chr1:155290000-155292600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:155290000-155292600	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr1:155290000-155293000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:155290200-155291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:155290200-155292400	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr1:155290200-155292400	Enhancers	Stomach Mucosa	stomach
10	chr1:155290200-155292600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:155290200-155292600	Flanking Active TSS	Fetal Muscle Leg	muscle
12	chr1:155290200-155292600	Flanking Active TSS	NH-A	brain
13	chr1:155290200-155293000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr1:155290200-155293000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr1:155290200-155293200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:155290200-155295000	Active TSS	Aorta	Aorta
17	chr1:155290400-155292200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:155290400-155292200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:155290400-155295400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:155290600-155291800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:155290600-155291800	Genic enhancers	A549	lung
22	chr1:155290600-155292000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:155290600-155292000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:155290600-155292200	Weak transcription	NHEK	skin
25	chr1:155290600-155292400	Enhancers	HMEC	breast
26	chr1:155290600-155292600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:155290600-155295800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:155290800-155291800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:155290800-155292200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:155290800-155292400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:155290800-155292600	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr1:155290800-155292600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:155291000-155291800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:155291000-155292000	Enhancers	GM12878-XiMat	blood
35	chr1:155291000-155292000	Enhancers	HUVEC	blood vessel
36	chr1:155291000-155292200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:155291000-155292200	Enhancers	Primary B cells from cord blood	blood
38	chr1:155291000-155292200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:155291000-155292200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:155291000-155292400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:155291000-155292400	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:155291000-155292400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr1:155291000-155292400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:155291000-155292400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:155291000-155292400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr1:155291000-155292400	Enhancers	Gastric	stomach
47	chr1:155291000-155292400	Enhancers	Pancreas	Pancrea
48	chr1:155291000-155292400	Enhancers	Spleen	Spleen
49	chr1:155291000-155292600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr1:155291000-155292600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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