Variant report

Variant	rs535670835
Chromosome Location	chr1:223566661-223566662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:223566655-223567280	MCF-7	breast:	n/a	n/a
2	MAX	chr1:223566576-223567285	A549	lung:	n/a	n/a
3	MAX	chr1:223566576-223567225	A549	lung:	n/a	n/a
4	E2F6	chr1:223566546-223567316	H1-hESC	embryonic stem cell:	n/a	chr1:223566642-223566652
5	MAX	chr1:223566605-223567182	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223566646-223566696	HCT-116	colon:	n/a
2	chr1:223566646-223566696	HEEpiC	esophagus:	n/a
3	chr1:223566643-223566693	Hela-S3	cervix:	n/a
4	chr1:223566646-223566696	ovcar-3	ovarian:	n/a
5	chr1:223566643-223566693	Hepatocyte	liver:	n/a
6	chr1:223566643-223566693	HNPCEpiC	eye:	n/a
7	chr1:223566643-223566693	CMK	blood:	n/a
8	chr1:223566643-223566693	SK-N-SH	brain:	n/a
9	chr1:223566643-223566693	PFSK-1	brain:	n/a
10	chr1:223566646-223566696	AoSMC	blood vessel:	n/a
11	chr1:223566643-223566693	H1-hESC	embryonic stem cell:	embryo
12	chr1:223566646-223566696	U87	brain:	n/a
13	chr1:223566643-223566693	ovcar-3	ovarian:	n/a
14	chr1:223566643-223566693	IMR90	lung:	fetal
15	chr1:223566643-223566693	HCF	heart:	n/a
16	chr1:223566646-223566696	NHDF-neo	bronchial:	n/a
17	chr1:223566643-223566693	SAEC	small airway:	n/a
18	chr1:223566646-223566696	HRE	kidney:	n/a
19	chr1:223566646-223566696	HMEC	breast:	n/a
20	chr1:223566646-223566696	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:223566643-223566693	HRE	kidney:	n/a
22	chr1:223566643-223566693	HCM	heart:	n/a
23	chr1:223566643-223566693	LNCaP	prostate:	n/a
24	chr1:223566646-223566696	LNCaP	prostate:	n/a
25	chr1:223566646-223566696	HRPEpiC	eye:	n/a
26	chr1:223566643-223566693	NHDF-neo	bronchial:	n/a
27	chr1:223566643-223566693	Jurkat	blood:	n/a
28	chr1:223566643-223566693	ECC-1	luminal epithelium:	n/a
29	chr1:223566643-223566693	MCF-7	breast:	n/a
30	chr1:223566646-223566696	NT2-D1	testis:	n/a
31	chr1:223566643-223566693	AG04450	lung:	fetal
32	chr1:223566646-223566696	AG04449	skin:	fetal
33	chr1:223566646-223566696	MCF-7	breast:	n/a
34	chr1:223566643-223566693	HRPEpiC	eye:	n/a
35	chr1:223566643-223566693	HepG2	liver:	n/a
36	chr1:223566643-223566693	HMEC	breast:	n/a
37	chr1:223566646-223566696	IMR90	lung:	fetal
38	chr1:223566646-223566696	CMK	blood:	n/a
39	chr1:223566646-223566696	NH-A	brain:	n/a
40	chr1:223566646-223566696	BJ	skin:	n/a
41	chr1:223566646-223566696	GM12892	blood:	n/a
42	chr1:223566643-223566693	AG09319	gingival:	n/a
43	chr1:223566643-223566693	NB4	blood:	n/a
44	chr1:223566646-223566696	SK-N-MC	brain:	n/a
45	chr1:223566646-223566696	PrEC	prostate:	n/a
46	chr1:223566643-223566693	HCPEpiC	choroid plexus:	n/a
47	chr1:223566646-223566696	HAEpiC	amniotic membrane:	n/a
48	chr1:223566643-223566693	HUVEC	blood vessel:	n/a
49	chr1:223566646-223566696	A549	lung:	n/a
50	chr1:223566646-223566696	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf65	TF binding region
C1orf65	CpG island
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223566000-223567000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr1:223566200-223566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:223566200-223566800	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr1:223566200-223567000	Bivalent Enhancer	Fetal Brain Male	brain
5	chr1:223566200-223567000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
6	chr1:223566200-223567200	Active TSS	Brain Anterior Caudate	brain
7	chr1:223566200-223567200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
8	chr1:223566200-223567200	Bivalent/Poised TSS	NHEK	skin
9	chr1:223566400-223566800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr1:223566400-223567000	Active TSS	Right Ventricle	heart
11	chr1:223566400-223567200	Active TSS	Ovary	ovary
12	chr1:223566600-223566800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:223566600-223566800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:223566600-223566800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:223566600-223566800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr1:223566600-223566800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
17	chr1:223566600-223566800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:223566600-223566800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:223566600-223566800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:223566600-223566800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr1:223566600-223566800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr1:223566600-223566800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
23	chr1:223566600-223566800	ZNF genes & repeats	Lung	lung
24	chr1:223566600-223566800	Active TSS	Pancreas	Pancrea
25	chr1:223566600-223566800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr1:223566600-223567000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr1:223566600-223567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:223566600-223567000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:223566600-223567000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:223566600-223567000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:223566600-223567000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:223566600-223567000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr1:223566600-223567000	Active TSS	Gastric	stomach
34	chr1:223566600-223567000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
35	chr1:223566600-223567000	Bivalent Enhancer	Thymus	Thymus
36	chr1:223566600-223567000	Bivalent/Poised TSS	NH-A	brain
37	chr1:223566600-223567200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:223566600-223567200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:223566600-223567200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
40	chr1:223566600-223567200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr1:223566600-223567200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr1:223566600-223567200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:223566600-223567200	Active TSS	Esophagus	oesophagus
44	chr1:223566600-223567200	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr1:223566600-223567200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:223566600-223567200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr1:223566600-223567200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr1:223566600-223567200	Bivalent/Poised TSS	Psoas Muscle	Psoas
49	chr1:223566600-223567200	Active TSS	Rectal Smooth Muscle	rectum
50	chr1:223566600-223567200	Active TSS	Right Atrium	heart

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