Variant report

Variant	rs74132246
Chromosome Location	chr1:179711886-179711887
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:179711866-179712279	SK-N-SH_RA	brain:	n/a	n/a
2	E2F6	chr1:179711602-179713485	H1-hESC	embryonic stem cell:	n/a	chr1:179712478-179712488 chr1:179712734-179712743 chr1:179713026-179713035
3	MAX	chr1:179711632-179713229	H1-hESC	embryonic stem cell:	n/a	chr1:179713027-179713037 chr1:179713049-179713059
4	REST	chr1:179711790-179712373	H1-neurons	neurons:	n/a	chr1:179712330-179712350
5	MAX	chr1:179711756-179712391	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr1:179711668-179713276	H1-hESC	embryonic stem cell:	n/a	chr1:179713027-179713037 chr1:179713049-179713059
7	RAD21	chr1:179711855-179712308	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr1:179711694-179713203	H1-hESC	embryonic stem cell:	n/a	chr1:179712478-179712488 chr1:179712734-179712743 chr1:179713026-179713035
9	POLR2A	chr1:179711779-179712384	H1-neurons	neurons:	n/a	n/a
10	SUZ12	chr1:179711443-179714153	NT2-D1	testis:	n/a	n/a
11	SIN3A	chr1:179711528-179712544	H1-hESC	embryonic stem cell:	n/a	chr1:179712163-179712177
12	POLR2A	chr1:179711845-179712753	H1-neurons	neurons:	n/a	n/a
13	MXI1	chr1:179710798-179717112	SK-N-SH	brain:	n/a	n/a
14	SUZ12	chr1:179711517-179714476	H1-hESC	embryonic stem cell:	n/a	n/a
15	GABPA	chr1:179711873-179712246	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179711859-179711909	SKMC	muscle:	n/a
2	chr1:179711859-179711909	AG04450	lung:	fetal
3	chr1:179711859-179711909	HPAEpiC	pulmonary alveolar:	n/a
4	chr1:179711859-179711909	NH-A	brain:	n/a
5	chr1:179711859-179711909	NT2-D1	testis:	n/a
6	chr1:179711859-179711909	HRE	kidney:	n/a
7	chr1:179711859-179711909	HCM	heart:	n/a
8	chr1:179711859-179711909	SK-N-MC	brain:	n/a
9	chr1:179711859-179711909	GM06990	blood:	n/a
10	chr1:179711859-179711909	HRCEpiC	kidney:	n/a
11	chr1:179711859-179711909	HNPCEpiC	eye:	n/a
12	chr1:179711859-179711909	HEK293	kidney:	embryo
13	chr1:179711859-179711909	AG09309	skin:	n/a
14	chr1:179711859-179711909	ovcar-3	ovarian:	n/a
15	chr1:179711859-179711909	HCF	heart:	n/a
16	chr1:179711859-179711909	CMK	blood:	n/a
17	chr1:179711859-179711909	SAEC	small airway:	n/a
18	chr1:179711859-179711909	U87	brain:	n/a
19	chr1:179711859-179711909	GM12892	blood:	n/a
20	chr1:179711859-179711909	A549	lung:	n/a
21	chr1:179711859-179711909	NHBE	bronchial:	n/a
22	chr1:179711859-179711909	RPTEC	kidney:	n/a
23	chr1:179711859-179711909	HUVEC	blood vessel:	n/a
24	chr1:179711859-179711909	BE2_C	brain:	n/a
25	chr1:179711859-179711909	MCF10A-Er-Src	breast:	n/a
26	chr1:179711859-179711909	HCPEpiC	choroid plexus:	n/a
27	chr1:179711859-179711909	Hepatocyte	liver:	n/a
28	chr1:179711859-179711909	GM12878	blood:	n/a
29	chr1:179711859-179711909	NB4	blood:	n/a
30	chr1:179711859-179711909	NHDF-neo	bronchial:	n/a
31	chr1:179711859-179711909	PFSK-1	brain:	n/a
32	chr1:179711859-179711909	ECC-1	luminal epithelium:	n/a
33	chr1:179711859-179711909	HCT-116	colon:	n/a
34	chr1:179711859-179711909	AG10803	skin:	n/a
35	chr1:179711859-179711909	IMR90	lung:	fetal
36	chr1:179711859-179711909	AG04449	skin:	fetal
37	chr1:179711859-179711909	ProgFib	skin:	n/a
38	chr1:179711859-179711909	HIPEpiC	eye:	n/a
39	chr1:179711859-179711909	AG09319	gingival:	n/a
40	chr1:179711859-179711909	K562	blood:	n/a
41	chr1:179711859-179711909	SK-N-SH_RA	brain:	n/a
42	chr1:179711859-179711909	HL-60	blood:	n/a
43	chr1:179711859-179711909	HEEpiC	esophagus:	n/a
44	chr1:179711859-179711909	HRPEpiC	eye:	n/a
45	chr1:179711859-179711909	SK-N-SH	brain:	n/a
46	chr1:179711859-179711909	LNCaP	prostate:	n/a
47	chr1:179711859-179711909	HMEC	breast:	n/a
48	chr1:179711859-179711909	HAEpiC	amniotic membrane:	n/a
49	chr1:179711859-179711909	Caco-2	colon:	n/a
50	chr1:179711859-179711909	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
FAM163A	TF binding region
FAM163A	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10458352	1.00[AMR][1000 genomes]
rs12123397	1.00[AMR][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	nsv548339	chr1:179686244-179722827	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179711400-179712000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
2	chr1:179711400-179714400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:179711600-179712000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr1:179711600-179712000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr1:179711600-179712000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:179711600-179712000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:179711600-179712000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:179711600-179712000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:179711600-179712000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr1:179711600-179712000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr1:179711600-179712000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr1:179711600-179712400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr1:179711600-179712400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr1:179711600-179712400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr1:179711600-179712400	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr1:179711600-179713200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr1:179711600-179713200	Bivalent Enhancer	Fetal Lung	lung
18	chr1:179711600-179713400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:179711600-179713600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:179711600-179713800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:179711600-179713800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:179711600-179713800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr1:179711600-179714000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr1:179711600-179714000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:179711800-179712000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:179711800-179712000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:179711800-179712000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:179711800-179712000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
29	chr1:179711800-179712000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr1:179711800-179712000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:179711800-179712000	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr1:179711800-179712000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
33	chr1:179711800-179712000	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr1:179711800-179712000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
35	chr1:179711800-179712000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:179711800-179712000	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr1:179711800-179712000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr1:179711800-179712200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr1:179711800-179712200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:179711800-179712200	Bivalent Enhancer	Esophagus	oesophagus
41	chr1:179711800-179712200	Enhancers	Gastric	stomach
42	chr1:179711800-179712200	Bivalent Enhancer	Left Ventricle	heart
43	chr1:179711800-179712200	Enhancers	Pancreas	Pancrea
44	chr1:179711800-179712200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr1:179711800-179712200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr1:179711800-179712200	Bivalent Enhancer	NH-A	brain
47	chr1:179711800-179712200	Bivalent/Poised TSS	NHEK	skin
48	chr1:179711800-179712400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:179711800-179712400	Bivalent Enhancer	Primary T cells from cord blood	blood
50	chr1:179711800-179712400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood

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