Variant report

Variant	rs41264917
Chromosome Location	chr1:155171811-155171812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155171387-155173548	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:155171551-155171848	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:155171689-155172668	PBDE	blood:	n/a	n/a
4	POLR2A	chr1:155171562-155172503	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:155169211-155173743	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr1:155171594-155171988	U87	brain:	n/a	n/a
7	POLR2A	chr1:155171799-155171892	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr1:155169218-155173608	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr1:155171486-155173560	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr1:155170928-155173751	U87	brain:	n/a	n/a
11	POLR2A	chr1:155171327-155172737	K562	blood:	n/a	n/a
12	POLR2A	chr1:155169213-155174029	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr1:155170934-155173823	U87	brain:	n/a	n/a
14	POLR2A	chr1:155169187-155174183	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:155171690-155173583	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:155168973-155179742	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:155171519-155172314	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:155171583-155172256	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:155169109-155175268	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:155171561-155172061	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155169616..155173195-chr1:155194780..155198735,4	MCF-7	breast:
2	chr1:155169679..155172666-chr1:155186873..155189391,3	MCF-7	breast:
3	chr1:155106208..155110263-chr1:155170377..155171955,3	K562	blood:
4	chr1:155171519..155180465-chr1:155194608..155199196,19	MCF-7	breast:
5	chr1:155170199..155172108-chr1:155187853..155191276,3	MCF-7	breast:

No data

Variant related genes	Relation type
THBS3	TF binding region
ENSG00000169241	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11586577	1.00[ASN][1000 genomes]
rs1611772	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61751623	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	434 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases
13	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
14	nsv872462	chr1:155151493-155172177	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
15	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155163600-155177400	Weak transcription	Small Intestine	intestine
2	chr1:155164800-155176800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:155165000-155176600	Weak transcription	Liver	Liver
4	chr1:155165000-155176800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:155165400-155176600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:155165400-155176800	Weak transcription	Right Atrium	heart
7	chr1:155165400-155176800	Weak transcription	Right Ventricle	heart
8	chr1:155165400-155177000	Weak transcription	Thymus	Thymus
9	chr1:155165600-155176600	Weak transcription	Fetal Kidney	kidney
10	chr1:155165600-155176600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:155165600-155176800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:155165600-155176800	Weak transcription	HMEC	breast
13	chr1:155165800-155176000	Strong transcription	Fetal Intestine Small	intestine
14	chr1:155165800-155176600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:155165800-155176800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155166000-155172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:155166000-155174800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr1:155166000-155176600	Weak transcription	Fetal Thymus	thymus
19	chr1:155166000-155176800	Weak transcription	K562	blood
20	chr1:155166200-155172000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:155166200-155172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:155166200-155174600	Weak transcription	Stomach Mucosa	stomach
23	chr1:155166200-155175000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:155166200-155175600	Strong transcription	Fetal Muscle Leg	muscle
25	chr1:155166400-155172000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:155166400-155175600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:155166400-155175800	Strong transcription	Fetal Stomach	stomach
28	chr1:155166400-155176200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:155166600-155172400	Strong transcription	NHLF	lung
30	chr1:155166600-155173400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:155167000-155173200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:155167000-155173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:155167000-155177200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:155167200-155176400	Weak transcription	Fetal Brain Male	brain
35	chr1:155167600-155172000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:155167600-155175200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:155167800-155175000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:155168000-155173400	Strong transcription	Brain Anterior Caudate	brain
39	chr1:155168000-155174800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:155168200-155174800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:155168200-155174800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:155168200-155175200	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:155168400-155172800	Weak transcription	Esophagus	oesophagus
44	chr1:155168400-155173600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:155168400-155174200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr1:155168400-155174600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:155168400-155175200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:155168400-155176200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:155168400-155176200	Weak transcription	HSMM	muscle
50	chr1:155168400-155176600	Weak transcription	Adipose Nuclei	Adipose

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