Variant report

Variant	rs7568998
Chromosome Location	chr2:128646965-128646966
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:128646607-128647230	MCF-7	breast:	n/a	chr2:128646951-128646961 chr2:128646952-128646964 chr2:128646955-128646972
2	CTCF	chr2:128646860-128647010	MCF-7	breast:	n/a	n/a
3	FOXA1	chr2:128646784-128647153	HepG2	liver:	n/a	chr2:128647052-128647064

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128646916-128646966	HIPEpiC	eye:	n/a
2	chr2:128646916-128646966	HepG2	liver:	n/a
3	chr2:128646916-128646966	HPAEpiC	pulmonary alveolar:	n/a
4	chr2:128646916-128646966	NB4	blood:	n/a
5	chr2:128646916-128646966	Hela-S3	cervix:	n/a
6	chr2:128646916-128646966	AG04449	skin:	fetal
7	chr2:128646916-128646966	HCF	heart:	n/a
8	chr2:128646916-128646966	BE2_C	brain:	n/a
9	chr2:128646916-128646966	PFSK-1	brain:	n/a
10	chr2:128646916-128646966	SKMC	muscle:	n/a
11	chr2:128646916-128646966	HAEpiC	amniotic membrane:	n/a
12	chr2:128646916-128646966	GM12892	blood:	n/a
13	chr2:128646916-128646966	HCT-116	colon:	n/a
14	chr2:128646916-128646966	A549	lung:	n/a
15	chr2:128646916-128646966	MCF10A-Er-Src	breast:	n/a
16	chr2:128646916-128646966	HEEpiC	esophagus:	n/a
17	chr2:128646916-128646966	GM12891	blood:	n/a
18	chr2:128646916-128646966	NH-A	brain:	n/a
19	chr2:128646916-128646966	SK-N-MC	brain:	n/a
20	chr2:128646916-128646966	SK-N-SH_RA	brain:	n/a
21	chr2:128646916-128646966	PANC-1	pancreas:	n/a
22	chr2:128646916-128646966	GM06990	blood:	n/a
23	chr2:128646916-128646966	HL-60	blood:	n/a
24	chr2:128646916-128646966	GM12878	blood:	n/a
25	chr2:128646916-128646966	PrEC	prostate:	n/a
26	chr2:128646916-128646966	H1-hESC	embryonic stem cell:	embryo
27	chr2:128646916-128646966	AG09309	skin:	n/a
28	chr2:128646916-128646966	HEK293	kidney:	embryo
29	chr2:128646916-128646966	Hepatocyte	liver:	n/a
30	chr2:128646916-128646966	MCF-7	breast:	n/a
31	chr2:128646916-128646966	NHDF-neo	bronchial:	n/a
32	chr2:128646916-128646966	Jurkat	blood:	n/a
33	chr2:128646916-128646966	HUVEC	blood vessel:	n/a
34	chr2:128646916-128646966	IMR90	lung:	fetal
35	chr2:128646916-128646966	RPTEC	kidney:	n/a
36	chr2:128646916-128646966	U87	brain:	n/a
37	chr2:128646916-128646966	ProgFib	skin:	n/a
38	chr2:128646916-128646966	CMK	blood:	n/a
39	chr2:128646916-128646966	K562	blood:	n/a
40	chr2:128646916-128646966	HCPEpiC	choroid plexus:	n/a
41	chr2:128646916-128646966	GM19239	blood:	n/a
42	chr2:128646916-128646966	NT2-D1	testis:	n/a
43	chr2:128646916-128646966	AG09319	gingival:	n/a
44	chr2:128646916-128646966	ECC-1	luminal epithelium:	n/a
45	chr2:128646916-128646966	HCM	heart:	n/a
46	chr2:128646916-128646966	NHBE	bronchial:	n/a
47	chr2:128646916-128646966	BJ	skin:	n/a
48	chr2:128646916-128646966	AG04450	lung:	fetal
49	chr2:128646916-128646966	HRCEpiC	kidney:	n/a
50	chr2:128646916-128646966	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:128644876..128647032-chr2:128655210..128656767,2	K562	blood:
2	chr2:128643213..128645806-chr2:128645953..128648439,2	MCF-7	breast:
3	chr2:128643056..128645609-chr2:128646932..128649028,4	K562	blood:

No data

Variant related genes	Relation type
AMMECR1L	TF binding region
AMMECR1L	CpG island
ENSG00000144233	Chromatin interaction
ENSG00000272667	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6708734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749005	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752995	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558232	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562106	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571272	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128644400-128647000	Weak transcription	Lung	lung
2	chr2:128644400-128650600	Weak transcription	Left Ventricle	heart
3	chr2:128644400-128651000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:128644400-128651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:128644600-128649800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:128645200-128647200	Enhancers	HepG2	liver
7	chr2:128645200-128650600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:128645200-128650600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:128645400-128649200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:128645400-128649200	Weak transcription	Thymus	Thymus
11	chr2:128645400-128649200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:128645400-128650000	Weak transcription	Right Atrium	heart
13	chr2:128645400-128651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:128645400-128659000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:128645600-128647000	Enhancers	Fetal Heart	heart
16	chr2:128645600-128647400	Enhancers	Ovary	ovary
17	chr2:128645600-128647800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:128645600-128649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:128645600-128649000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:128645600-128649200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:128645600-128650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:128645600-128651000	Weak transcription	Aorta	Aorta
23	chr2:128645600-128651000	Weak transcription	Placenta	Placenta
24	chr2:128645800-128648000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:128645800-128648000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:128645800-128649000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:128645800-128649600	Weak transcription	NH-A	brain
28	chr2:128645800-128651400	Weak transcription	Fetal Brain Female	brain
29	chr2:128645800-128654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:128645800-128655200	Weak transcription	K562	blood
31	chr2:128645800-128659000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:128646000-128647200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:128646000-128647400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:128646000-128648200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:128646000-128648200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:128646000-128648400	Weak transcription	NHLF	lung
37	chr2:128646000-128649000	Weak transcription	Primary T cells from cord blood	blood
38	chr2:128646000-128649000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:128646000-128649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:128646000-128649800	Weak transcription	NHDF-Ad	bronchial
41	chr2:128646000-128650000	Weak transcription	Right Ventricle	heart
42	chr2:128646000-128650200	Weak transcription	Liver	Liver
43	chr2:128646000-128652400	Weak transcription	Brain Germinal Matrix	brain
44	chr2:128646000-128653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:128646000-128654600	Weak transcription	Primary B cells from cord blood	blood
46	chr2:128646000-128658600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:128646200-128649000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:128646600-128647400	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:128646800-128647000	Enhancers	Pancreas	Pancrea
50	chr2:128646800-128647400	Strong transcription	Fetal Stomach	stomach

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