Variant report

Variant	rs2544811
Chromosome Location	chr5:176904876-176904877
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:176904509-176905453	K562	blood:	n/a	n/a
2	POLR2A	chr5:176904429-176905560	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:176904781-176905586	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:176902952-176905659	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:176904655-176905696	U87	brain:	n/a	n/a
6	POLR2A	chr5:176904547-176905531	ProgFib	skin:	n/a	n/a
7	PBX3	chr5:176904740-176905596	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr5:176904374-176905608	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr5:176904655-176905573	U87	brain:	n/a	n/a
10	POLR2A	chr5:176904414-176905640	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr5:176897099-176907636	IMR90	lung:	n/a	n/a
12	POLR2A	chr5:176904551-176905497	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:176904585-176905512	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:176904478-176905534	A549	lung:	n/a	n/a
15	POLR2A	chr5:176904719-176905518	K562	blood:	n/a	n/a
16	POLR2A	chr5:176904488-176905029	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr5:176904489-176905530	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:176904602-176905574	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:176904326-176905645	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr5:176904444-176905595	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr5:176904416-176905642	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr5:176904414-176905571	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:176904529-176905389	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:176904434..176906124-chr9:80330540..80332593,2	MCF-7	breast:

No data

Variant related genes	Relation type
DBN1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2306761	1.00[CEU][hapmap]
rs2731663	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.84[AFR][1000 genomes]
rs337414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
5	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	114 gene(s)	inside rSNPs	diseases
7	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
8	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv883166	chr5:176817636-176940384	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer 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 target site	108 gene(s)	inside rSNPs	diseases
10	nsv883170	chr5:176824137-176952919	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv883173	chr5:176842474-176931706	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
12	nsv883174	chr5:176842474-176940384	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv883175	chr5:176842474-176952919	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
14	nsv883176	chr5:176843297-176924175	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv1030965	chr5:176851182-176937654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
16	nsv1026103	chr5:176851182-176942552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
17	nsv1022832	chr5:176861503-176937654	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv1018088	chr5:176861503-176942552	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
19	nsv1028123	chr5:176861503-176949149	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	83 gene(s)	inside rSNPs	diseases
20	nsv537965	chr5:176861503-176949149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
21	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
22	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2544811	LOC644936	trans	lymphoblastoid	seeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176900200-176905800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:176900600-176905200	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:176900600-176905200	Weak transcription	Gastric	stomach
4	chr5:176900600-176905800	Weak transcription	NHEK	skin
5	chr5:176900600-176906000	Weak transcription	Hela-S3	cervix
6	chr5:176900600-176907400	Enhancers	Spleen	Spleen
7	chr5:176900600-176909600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:176900600-176910200	Weak transcription	Aorta	Aorta
9	chr5:176900600-176919200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:176900800-176905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:176900800-176905400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:176900800-176905800	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:176900800-176907400	Enhancers	Colon Smooth Muscle	Colon
14	chr5:176901000-176910400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:176901200-176905000	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:176901200-176905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:176901200-176905400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:176901200-176905800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:176901200-176906200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:176901400-176905800	Weak transcription	Brain Anterior Caudate	brain
21	chr5:176901400-176906200	Weak transcription	Psoas Muscle	Psoas
22	chr5:176901400-176906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:176901400-176909400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:176901400-176909600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:176901400-176910600	Weak transcription	Brain Germinal Matrix	brain
26	chr5:176901400-176911000	Weak transcription	Fetal Kidney	kidney
27	chr5:176901600-176905200	Weak transcription	Left Ventricle	heart
28	chr5:176901600-176905800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:176901600-176906200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:176901600-176906600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:176901600-176907400	Enhancers	Fetal Thymus	thymus
32	chr5:176901600-176910200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:176901600-176914600	Weak transcription	Fetal Brain Female	brain
34	chr5:176901600-176923000	Weak transcription	Brain Angular Gyrus	brain
35	chr5:176901800-176906400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:176901800-176906600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:176901800-176906600	Weak transcription	Osteobl	bone
38	chr5:176901800-176908800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:176902000-176905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:176902000-176908800	Weak transcription	Fetal Intestine Large	intestine
41	chr5:176902200-176905200	Weak transcription	Pancreas	Pancrea
42	chr5:176902200-176905800	Weak transcription	Right Atrium	heart
43	chr5:176902200-176906400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:176902200-176906600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:176902400-176910600	Weak transcription	Brain Substantia Nigra	brain
46	chr5:176902400-176920200	Weak transcription	Fetal Brain Male	brain
47	chr5:176902600-176905400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:176902600-176906000	Weak transcription	HSMMtube	muscle
49	chr5:176902600-176906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:176902600-176910200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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