Variant report

Variant	rs61914239
Chromosome Location	chr12:26170796-26170797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:26170457-26170955	HepG2	liver:	n/a	n/a
2	CTCF	chr12:26170539-26170913	A549	lung:	n/a	n/a
3	CTCF	chr12:26170700-26170850	NHDF-neo	bronchial:	n/a	n/a
4	RAD21	chr12:26170342-26171066	HCT-116	colon:	n/a	n/a
5	CTCF	chr12:26170680-26170830	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr12:26170660-26170810	HepG2	liver:	n/a	n/a
7	CTCF	chr12:26170700-26170850	HVMF	connective:	n/a	n/a
8	CTCF	chr12:26170498-26170838	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:26170680-26170830	HEK293	kidney:	n/a	n/a
10	CTCF	chr12:26170680-26170830	HRE	kidney:	n/a	n/a
11	CTCF	chr12:26170660-26170810	GM12864	blood:	n/a	n/a
12	RAD21	chr12:26170340-26170928	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:26170235-26171042	A549	lung:	n/a	n/a
14	SMC3	chr12:26170534-26170914	HepG2	liver:	n/a	n/a
15	CTCF	chr12:26170536-26170897	A549	lung:	n/a	n/a
16	CTCF	chr12:26170617-26170871	K562	blood:	n/a	n/a
17	CTCF	chr12:26170660-26170810	HUVEC	blood vessel:	n/a	n/a
18	RAD21	chr12:26170579-26170890	GM12878	blood:	n/a	n/a
19	TEAD4	chr12:26170589-26170887	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr12:26170602-26170850	ProgFib	skin:	n/a	n/a
21	CTCF	chr12:26170479-26170864	HepG2	liver:	n/a	n/a
22	CTCF	chr12:26170567-26170804	GM12892	blood:	n/a	n/a
23	CTCF	chr12:26170660-26170810	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr12:26170720-26170870	HAc	cerebellar:	n/a	n/a
25	CTCF	chr12:26170700-26170850	BJ	skin:	n/a	n/a
26	CTCF	chr12:26170660-26170810	HL-60	blood:	n/a	n/a
27	RAD21	chr12:26170401-26171017	A549	lung:	n/a	n/a
28	CTCF	chr12:26170660-26170810	HCT-116	colon:	n/a	n/a
29	CTCF	chr12:26170546-26170920	K562	blood:	n/a	n/a
30	RAD21	chr12:26170468-26170986	IMR90	lung:	n/a	n/a
31	CTCF	chr12:26170633-26170868	Kidney_OC	kidney:	n/a	n/a
32	RAD21	chr12:26170393-26170917	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:26170603-26170805	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr12:26170680-26170830	GM12872	blood:	n/a	n/a
35	RAD21	chr12:26170547-26170894	HepG2	liver:	n/a	n/a
36	CTCF	chr12:26170553-26170857	K562	blood:	n/a	n/a
37	RAD21	chr12:26170376-26171033	MCF-7	breast:	n/a	n/a
38	ZNF143	chr12:26170556-26170896	GM12878	blood:	n/a	n/a
39	CTCF	chr12:26170660-26170810	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr12:26170680-26170830	HCT-116	colon:	n/a	n/a
41	CTCF	chr12:26170680-26170830	GM06990	blood:	n/a	n/a
42	CTCF	chr12:26170660-26170810	AG04449	skin:	n/a	n/a
43	RAD21	chr12:26170554-26170908	A549	lung:	n/a	n/a
44	RAD21	chr12:26170562-26170858	GM12878	blood:	n/a	n/a
45	CTCF	chr12:26170700-26170850	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr12:26170660-26170810	GM12801	blood:	n/a	n/a
47	ATF2	chr12:26170487-26170862	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:26170573-26170861	MCF-7	breast:	n/a	n/a
49	SMC3	chr12:26170467-26171021	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr12:26170680-26170830	NB4	blood:	n/a	n/a

No data

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16929965	0.83[ASN][1000 genomes]
rs2172912	0.87[ASN][1000 genomes]
rs56959935	0.87[ASN][1000 genomes]
rs58597112	0.93[ASN][1000 genomes]
rs58882782	0.87[ASN][1000 genomes]
rs61914216	0.93[ASN][1000 genomes]
rs61914242	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61914243	0.91[ASN][1000 genomes]
rs61914244	0.89[ASN][1000 genomes]
rs61914245	0.91[ASN][1000 genomes]
rs61915665	0.87[ASN][1000 genomes]
rs7962900	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7963582	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26164600-26171600	Weak transcription	NH-A	brain
3	chr12:26164800-26173200	Weak transcription	HMEC	breast
4	chr12:26165000-26171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:26165200-26171400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:26167200-26174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:26167400-26171600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:26168200-26171000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:26168200-26171000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:26168800-26172600	Enhancers	NHDF-Ad	bronchial
12	chr12:26169000-26171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:26169200-26170800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:26169200-26171000	Enhancers	HUVEC	blood vessel
15	chr12:26169200-26172600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:26169600-26170800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:26169600-26173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:26169600-26182000	Weak transcription	NHLF	lung
20	chr12:26170000-26171000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:26170000-26173200	Enhancers	Osteobl	bone
22	chr12:26170200-26170800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:26170200-26171000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:26170200-26171200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:26170400-26170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:26170400-26170800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:26170400-26170800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:26170400-26170800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:26170400-26170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:26170400-26170800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:26170400-26170800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:26170400-26170800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:26170400-26170800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:26170400-26170800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:26170400-26170800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:26170400-26170800	Enhancers	Adipose Nuclei	Adipose
37	chr12:26170400-26170800	Enhancers	Aorta	Aorta
38	chr12:26170400-26170800	Enhancers	Brain Angular Gyrus	brain
39	chr12:26170400-26170800	Enhancers	Brain Hippocampus Middle	brain
40	chr12:26170400-26170800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr12:26170400-26170800	Enhancers	Fetal Heart	heart
42	chr12:26170400-26170800	Enhancers	Placenta	Placenta
43	chr12:26170400-26170800	Flanking Active TSS	Left Ventricle	heart
44	chr12:26170400-26170800	Enhancers	Lung	lung
45	chr12:26170400-26170800	Enhancers	Ovary	ovary
46	chr12:26170400-26170800	Enhancers	Pancreas	Pancrea
47	chr12:26170400-26170800	Enhancers	Psoas Muscle	Psoas
48	chr12:26170400-26170800	Enhancers	Right Atrium	heart
49	chr12:26170400-26170800	Enhancers	Right Ventricle	heart
50	chr12:26170400-26170800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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