Variant report

Variant	rs550399160
Chromosome Location	chr2:85980500-85980501
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:85980437-85980969	H1-hESC	embryonic stem cell:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
2	MAX	chr2:85980493-85982879	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
3	CTBP2	chr2:85980328-85982657	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr2:85980490-85980957	ECC-1	luminal epithelium:	n/a	chr2:85980725-85980736 chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
5	E2F6	chr2:85980287-85981483	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980931-85980938
6	POLR2A	chr2:85980497-85982286	ProgFib	skin:	n/a	n/a
7	E2F6	chr2:85980258-85980922	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471
8	MAX	chr2:85980394-85980981	H1-hESC	embryonic stem cell:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736
9	CHD1	chr2:85980409-85983348	IMR90	lung:	n/a	chr2:85980799-85980809 chr2:85980931-85980938
10	BACH1	chr2:85980430-85980766	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr2:85980438-85980964	H1-hESC	embryonic stem cell:	n/a	chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85980500-85980550	MCF10A-Er-Src	breast:	n/a
2	chr2:85980500-85980550	GM19239	blood:	n/a
3	chr2:85980500-85980550	GM12878	blood:	n/a
4	chr2:85980500-85980550	AG10803	skin:	n/a
5	chr2:85980500-85980550	NHBE	bronchial:	n/a
6	chr2:85980500-85980550	HUVEC	blood vessel:	n/a
7	chr2:85980500-85980550	K562	blood:	n/a
8	chr2:85980500-85980550	SK-N-MC	brain:	n/a
9	chr2:85980500-85980550	ProgFib	skin:	n/a
10	chr2:85980500-85980550	LNCaP	prostate:	n/a
11	chr2:85980500-85980550	BJ	skin:	n/a
12	chr2:85980500-85980550	BE2_C	brain:	n/a
13	chr2:85980500-85980550	NB4	blood:	n/a
14	chr2:85980500-85980550	NT2-D1	testis:	n/a
15	chr2:85980500-85980550	GM06990	blood:	n/a
16	chr2:85980500-85980550	GM12891	blood:	n/a
17	chr2:85980500-85980550	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:85980500-85980550	PFSK-1	brain:	n/a
19	chr2:85980500-85980550	Hepatocyte	liver:	n/a
20	chr2:85980500-85980550	HRE	kidney:	n/a
21	chr2:85980500-85980550	AoSMC	blood vessel:	n/a
22	chr2:85980500-85980550	RPTEC	kidney:	n/a
23	chr2:85980500-85980550	PANC-1	pancreas:	n/a
24	chr2:85980500-85980550	SK-N-SH	brain:	n/a
25	chr2:85980500-85980550	MCF-7	breast:	n/a
26	chr2:85980500-85980550	CMK	blood:	n/a
27	chr2:85980500-85980550	HIPEpiC	eye:	n/a
28	chr2:85980500-85980550	AG04449	skin:	fetal
29	chr2:85980500-85980550	AG09319	gingival:	n/a
30	chr2:85980500-85980550	AG09309	skin:	n/a
31	chr2:85980500-85980550	SK-N-SH_RA	brain:	n/a
32	chr2:85980500-85980550	ovcar-3	ovarian:	n/a
33	chr2:85980500-85980550	PrEC	prostate:	n/a
34	chr2:85980500-85980550	HEK293	kidney:	embryo
35	chr2:85980500-85980550	HEEpiC	esophagus:	n/a
36	chr2:85980500-85980550	A549	lung:	n/a
37	chr2:85980500-85980550	H1-hESC	embryonic stem cell:	embryo
38	chr2:85980500-85980550	HNPCEpiC	eye:	n/a
39	chr2:85980500-85980550	IMR90	lung:	fetal
40	chr2:85980500-85980550	NH-A	brain:	n/a
41	chr2:85980500-85980550	HCM	heart:	n/a
42	chr2:85980500-85980550	HepG2	liver:	n/a
43	chr2:85980500-85980550	SKMC	muscle:	n/a
44	chr2:85980500-85980550	HCF	heart:	n/a
45	chr2:85980500-85980550	ECC-1	luminal epithelium:	n/a
46	chr2:85980500-85980550	HCT-116	colon:	n/a
47	chr2:85980500-85980550	T-47D	breast:	n/a
48	chr2:85980500-85980550	NHDF-neo	bronchial:	n/a
49	chr2:85980500-85980550	HRCEpiC	kidney:	n/a
50	chr2:85980500-85980550	AG04450	lung:	fetal

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:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3326551	chr2:85980466-85983314	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85977600-85980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr2:85978800-85980600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:85978800-85980600	Weak transcription	Hela-S3	cervix
4	chr2:85979000-85980600	Weak transcription	HSMMtube	muscle
5	chr2:85979800-85980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:85979800-85980600	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr2:85979800-85980800	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr2:85980000-85980600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr2:85980000-85980600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:85980000-85980600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:85980000-85980600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr2:85980000-85980600	Flanking Active TSS	HSMM	muscle
13	chr2:85980000-85980600	Flanking Active TSS	NHDF-Ad	bronchial
14	chr2:85980000-85980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:85980000-85980800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:85980000-85980800	Flanking Active TSS	Fetal Lung	lung
17	chr2:85980000-85981000	Bivalent Enhancer	Fetal Thymus	thymus
18	chr2:85980000-85981000	Enhancers	Gastric	stomach
19	chr2:85980000-85982800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr2:85980000-85983000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:85980000-85983400	Active TSS	Right Atrium	heart
22	chr2:85980200-85980600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:85980200-85980600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:85980200-85980600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:85980200-85980600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:85980200-85980600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:85980200-85980600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:85980200-85980600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
29	chr2:85980200-85980600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr2:85980200-85980600	Bivalent Enhancer	Placenta	Placenta
31	chr2:85980200-85980600	Flanking Active TSS	Ovary	ovary
32	chr2:85980200-85980600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
33	chr2:85980200-85980600	Flanking Active TSS	Right Ventricle	heart
34	chr2:85980200-85980600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:85980200-85980600	Enhancers	Spleen	Spleen
36	chr2:85980200-85980600	Enhancers	HUVEC	blood vessel
37	chr2:85980200-85980800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:85980200-85980800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:85980200-85980800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
40	chr2:85980200-85980800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr2:85980200-85980800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr2:85980200-85980800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr2:85980200-85980800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr2:85980200-85981000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr2:85980200-85981200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr2:85980200-85981400	Bivalent/Poised TSS	Colonic Mucosa	Colon
47	chr2:85980200-85981600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
48	chr2:85980200-85982400	Active TSS	Fetal Kidney	kidney
49	chr2:85980200-85983200	Active TSS	Left Ventricle	heart
50	chr2:85980200-85983400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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