Variant report

Variant	rs2280317
Chromosome Location	chr2:85980047-85980048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr2:85978320-85980052	HEK293-T-REx	kidney:	n/a	chr2:85979004-85979013

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85980044-85980094	HIPEpiC	eye:	n/a
2	chr2:85980044-85980094	HRE	kidney:	n/a
3	chr2:85980044-85980094	AG09309	skin:	n/a
4	chr2:85980044-85980094	AG04449	skin:	fetal
5	chr2:85980044-85980094	ProgFib	skin:	n/a
6	chr2:85980044-85980094	HCPEpiC	choroid plexus:	n/a
7	chr2:85980044-85980094	Caco-2	colon:	n/a
8	chr2:85980044-85980094	PFSK-1	brain:	n/a
9	chr2:85980044-85980094	HRCEpiC	kidney:	n/a
10	chr2:85980044-85980094	Hela-S3	cervix:	n/a
11	chr2:85980044-85980094	HEEpiC	esophagus:	n/a
12	chr2:85980044-85980094	IMR90	lung:	fetal
13	chr2:85980044-85980094	HCT-116	colon:	n/a
14	chr2:85980044-85980094	AG09319	gingival:	n/a
15	chr2:85980044-85980094	HepG2	liver:	n/a
16	chr2:85980044-85980094	K562	blood:	n/a
17	chr2:85980044-85980094	NHDF-neo	bronchial:	n/a
18	chr2:85980044-85980094	HL-60	blood:	n/a
19	chr2:85980044-85980094	H1-hESC	embryonic stem cell:	embryo
20	chr2:85980044-85980094	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:85980044-85980094	HMEC	breast:	n/a
22	chr2:85980044-85980094	GM12878	blood:	n/a
23	chr2:85980044-85980094	BJ	skin:	n/a
24	chr2:85980044-85980094	NB4	blood:	n/a
25	chr2:85980044-85980094	BE2_C	brain:	n/a
26	chr2:85980044-85980094	AoSMC	blood vessel:	n/a
27	chr2:85980044-85980094	Hepatocyte	liver:	n/a
28	chr2:85980044-85980094	HNPCEpiC	eye:	n/a
29	chr2:85980044-85980094	MCF10A-Er-Src	breast:	n/a
30	chr2:85980044-85980094	ovcar-3	ovarian:	n/a
31	chr2:85980044-85980094	NT2-D1	testis:	n/a
32	chr2:85980044-85980094	ECC-1	luminal epithelium:	n/a
33	chr2:85980044-85980094	T-47D	breast:	n/a
34	chr2:85980044-85980094	AG10803	skin:	n/a
35	chr2:85980044-85980094	HCM	heart:	n/a
36	chr2:85980044-85980094	SK-N-SH_RA	brain:	n/a
37	chr2:85980044-85980094	GM12892	blood:	n/a
38	chr2:85980044-85980094	NHBE	bronchial:	n/a
39	chr2:85980044-85980094	HUVEC	blood vessel:	n/a
40	chr2:85980044-85980094	GM12891	blood:	n/a
41	chr2:85980044-85980094	A549	lung:	n/a
42	chr2:85980044-85980094	NH-A	brain:	n/a
43	chr2:85980044-85980094	GM06990	blood:	n/a
44	chr2:85980044-85980094	PANC-1	pancreas:	n/a
45	chr2:85980044-85980094	SK-N-SH	brain:	n/a
46	chr2:85980044-85980094	U87	brain:	n/a
47	chr2:85980044-85980094	HAEpiC	amniotic membrane:	n/a
48	chr2:85980044-85980094	LNCaP	prostate:	n/a
49	chr2:85980044-85980094	SAEC	small airway:	n/a
50	chr2:85980044-85980094	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:
2	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:

No data

Variant related genes	Relation type
ATOH8	TF binding region
ATOH8	CpG island
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10172667	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13430978	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17851881	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr2:85974800-85980400	Enhancers	Fetal Heart	heart
3	chr2:85975800-85980400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:85976600-85980200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:85977000-85980200	Weak transcription	Aorta	Aorta
6	chr2:85977600-85980200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:85977600-85980200	Enhancers	Left Ventricle	heart
8	chr2:85977600-85980200	Enhancers	Right Ventricle	heart
9	chr2:85977600-85980400	Enhancers	Lung	lung
10	chr2:85977600-85980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr2:85977800-85980200	Enhancers	Brain Angular Gyrus	brain
12	chr2:85977800-85980200	Enhancers	Ovary	ovary
13	chr2:85977800-85980400	Enhancers	Liver	Liver
14	chr2:85977800-85980400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr2:85977800-85980400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr2:85977800-85980400	Bivalent Enhancer	HepG2	liver
17	chr2:85978200-85980400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:85978600-85980400	Weak transcription	Osteobl	bone
19	chr2:85978800-85980200	Weak transcription	Esophagus	oesophagus
20	chr2:85978800-85980400	Weak transcription	Pancreas	Pancrea
21	chr2:85978800-85980600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:85978800-85980600	Weak transcription	Hela-S3	cervix
23	chr2:85979000-85980200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:85979000-85980200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:85979000-85980200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:85979000-85980600	Weak transcription	HSMMtube	muscle
27	chr2:85979400-85980200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr2:85979600-85980200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:85979600-85980200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:85979600-85980200	Enhancers	Psoas Muscle	Psoas
31	chr2:85979600-85980200	Bivalent Enhancer	Spleen	Spleen
32	chr2:85979600-85980400	Bivalent Enhancer	Fetal Stomach	stomach
33	chr2:85979800-85980200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:85979800-85980200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:85979800-85980400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:85979800-85980400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:85979800-85980400	Enhancers	NHLF	lung
38	chr2:85979800-85980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:85979800-85980600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr2:85979800-85980800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr2:85980000-85980200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:85980000-85980200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr2:85980000-85980200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:85980000-85980200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr2:85980000-85980200	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr2:85980000-85980200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr2:85980000-85980200	Enhancers	A549	lung
48	chr2:85980000-85980400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
49	chr2:85980000-85980400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:85980000-85980400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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