Variant report

Variant	rs77531287
Chromosome Location	chr1:10056977-10056978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:10056884-10057287	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:10056892-10058253	ECC-1	luminal epithelium:	n/a	chr1:10057726-10057735
3	MAX	chr1:10056825-10057668	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr1:10056934-10058254	H1-hESC	embryonic stem cell:	n/a	chr1:10057726-10057735
5	SPI1	chr1:10056853-10057229	HL-60	blood:	n/a	chr1:10057091-10057098
6	ZBTB7A	chr1:10056938-10058139	ECC-1	luminal epithelium:	n/a	chr1:10057503-10057514 chr1:10058058-10058066

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10056957-10057007	HAEpiC	amniotic membrane:	n/a
2	chr1:10056957-10057007	SK-N-SH_RA	brain:	n/a
3	chr1:10056957-10057007	SK-N-SH	brain:	n/a
4	chr1:10056957-10057007	GM19239	blood:	n/a
5	chr1:10056957-10057007	HRE	kidney:	n/a
6	chr1:10056957-10057007	BJ	skin:	n/a
7	chr1:10056957-10057007	AG09309	skin:	n/a
8	chr1:10056957-10057007	K562	blood:	n/a
9	chr1:10056957-10057007	HMEC	breast:	n/a
10	chr1:10056957-10057007	MCF10A-Er-Src	breast:	n/a
11	chr1:10056957-10057007	HNPCEpiC	eye:	n/a
12	chr1:10056957-10057007	T-47D	breast:	n/a
13	chr1:10056957-10057007	HepG2	liver:	n/a
14	chr1:10056957-10057007	SKMC	muscle:	n/a
15	chr1:10056957-10057007	NT2-D1	testis:	n/a
16	chr1:10056957-10057007	PANC-1	pancreas:	n/a
17	chr1:10056957-10057007	AoSMC	blood vessel:	n/a
18	chr1:10056957-10057007	SAEC	small airway:	n/a
19	chr1:10056957-10057007	AG09319	gingival:	n/a
20	chr1:10056957-10057007	H1-hESC	embryonic stem cell:	embryo
21	chr1:10056957-10057007	Jurkat	blood:	n/a
22	chr1:10056957-10057007	NB4	blood:	n/a
23	chr1:10056957-10057007	Hepatocyte	liver:	n/a
24	chr1:10056957-10057007	RPTEC	kidney:	n/a
25	chr1:10056957-10057007	HCM	heart:	n/a
26	chr1:10056957-10057007	IMR90	lung:	fetal
27	chr1:10056957-10057007	AG10803	skin:	n/a
28	chr1:10056957-10057007	GM12892	blood:	n/a
29	chr1:10056957-10057007	Hela-S3	cervix:	n/a
30	chr1:10056957-10057007	HIPEpiC	eye:	n/a
31	chr1:10056957-10057007	PFSK-1	brain:	n/a
32	chr1:10056957-10057007	HRCEpiC	kidney:	n/a
33	chr1:10056957-10057007	GM12878	blood:	n/a
34	chr1:10056957-10057007	HUVEC	blood vessel:	n/a
35	chr1:10056957-10057007	SK-N-MC	brain:	n/a
36	chr1:10056957-10057007	HCPEpiC	choroid plexus:	n/a
37	chr1:10056957-10057007	HCF	heart:	n/a
38	chr1:10056957-10057007	PrEC	prostate:	n/a
39	chr1:10056957-10057007	HEK293	kidney:	embryo
40	chr1:10056957-10057007	NHDF-neo	bronchial:	n/a
41	chr1:10056957-10057007	MCF-7	breast:	n/a
42	chr1:10056957-10057007	HL-60	blood:	n/a
43	chr1:10056957-10057007	ProgFib	skin:	n/a
44	chr1:10056957-10057007	AG04449	skin:	fetal
45	chr1:10056957-10057007	HEEpiC	esophagus:	n/a
46	chr1:10056957-10057007	A549	lung:	n/a
47	chr1:10056957-10057007	HRPEpiC	eye:	n/a
48	chr1:10056957-10057007	GM06990	blood:	n/a
49	chr1:10056957-10057007	ECC-1	luminal epithelium:	n/a
50	chr1:10056957-10057007	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10056745..10057479-chr4:1283519..1284439,2	HCT-116	colon:

No data

Variant related genes	Relation type
RBP7	TF binding region
RBP7	CpG island
ENSG00000090316	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv3394408	chr1:10056190-10058738	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3398287	chr1:10056590-10059138	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10032800-10057000	Weak transcription	Psoas Muscle	Psoas
2	chr1:10042800-10057200	Weak transcription	Gastric	stomach
3	chr1:10045400-10057000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:10046200-10057000	Weak transcription	Ovary	ovary
5	chr1:10052600-10057000	Weak transcription	Left Ventricle	heart
6	chr1:10053200-10057400	Weak transcription	Spleen	Spleen
7	chr1:10056400-10057000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr1:10056600-10057000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr1:10056600-10057000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr1:10056600-10057000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr1:10056600-10057000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr1:10056600-10057000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr1:10056600-10057000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr1:10056600-10057000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:10056600-10057000	Enhancers	Brain Hippocampus Middle	brain
16	chr1:10056600-10057000	Enhancers	Esophagus	oesophagus
17	chr1:10056600-10057000	Enhancers	Right Ventricle	heart
18	chr1:10056600-10057200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr1:10056600-10057200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr1:10056600-10057200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr1:10056600-10057200	Enhancers	Placenta	Placenta
22	chr1:10056600-10057200	Bivalent Enhancer	HUVEC	blood vessel
23	chr1:10056600-10057200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr1:10056600-10057400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr1:10056600-10057400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr1:10056600-10057400	Enhancers	Brain Angular Gyrus	brain
27	chr1:10056600-10057600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:10056600-10058400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:10056800-10057000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr1:10056800-10057000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:10056800-10057000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
36	chr1:10056800-10057000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr1:10056800-10057000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
38	chr1:10056800-10057000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:10056800-10057000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:10056800-10057000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:10056800-10057000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
42	chr1:10056800-10057000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
43	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr1:10056800-10057000	Bivalent Enhancer	Fetal Brain Female	brain
45	chr1:10056800-10057000	Flanking Active TSS	Fetal Heart	heart
46	chr1:10056800-10057000	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr1:10056800-10057000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
49	chr1:10056800-10057000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	HepG2	liver

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