Variant report

Variant	rs4818734
Chromosome Location	chr21:46220161-46220162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:171)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:171 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr21:46220076-46220296	T-47D	breast:	n/a	n/a
2	CTCF	chr21:46219965-46220405	HCT-116	colon:	n/a	n/a
3	RAD21	chr21:46220033-46220383	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr21:46220140-46220290	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr21:46220061-46220350	T-47D	breast:	n/a	n/a
6	CTCF	chr21:46220042-46220291	HepG2	liver:	n/a	n/a
7	CTCF	chr21:46220140-46220290	HCFaa	heart:	n/a	n/a
8	CTCF	chr21:46220100-46220250	HepG2	liver:	n/a	n/a
9	CTCF	chr21:46220108-46220270	ProgFib	skin:	n/a	n/a
10	CTCF	chr21:46220120-46220270	HMF	breast:	n/a	n/a
11	CTCF	chr21:46220066-46220305	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr21:46220120-46220270	SAEC	small airway:	n/a	n/a
13	ZNF143	chr21:46220073-46220320	GM12878	blood:	n/a	n/a
14	CTCF	chr21:46220010-46220338	A549	lung:	n/a	n/a
15	CTCF	chr21:46220103-46220291	A549	lung:	n/a	n/a
16	CTCF	chr21:46220114-46220297	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr21:46220116-46220271	GM13977	blood:	n/a	n/a
18	SMC3	chr21:46220047-46220390	HepG2	liver:	n/a	n/a
19	CTCF	chr21:46220130-46220268	GM12892	blood:	n/a	n/a
20	CTCF	chr21:46220120-46220270	HBMEC	blood vessel:	n/a	n/a
21	RAD21	chr21:46220078-46220301	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr21:46220080-46220230	K562	blood:	n/a	n/a
23	RAD21	chr21:46219938-46220409	HepG2	liver:	n/a	n/a
24	CTCF	chr21:46219714-46220665	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr21:46220160-46220310	HPAF	blood vessel:	n/a	n/a
26	HDAC2	chr21:46220058-46220295	HepG2	liver:	n/a	n/a
27	CTCF	chr21:46220128-46220291	GM19238	blood:	n/a	n/a
28	RAD21	chr21:46220020-46220333	SK-N-SH_RA	brain:	n/a	n/a
29	RAD21	chr21:46219901-46220501	MCF-7	breast:	n/a	n/a
30	CTCF	chr21:46220134-46220242	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr21:46220120-46220270	NHEK	skin:	n/a	n/a
32	CTCF	chr21:46220080-46220230	HRE	kidney:	n/a	n/a
33	CTCF	chr21:46220120-46220270	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr21:46220098-46220287	Fibrobl	skin:	n/a	n/a
35	CTCF	chr21:46220160-46220310	AG09309	skin:	n/a	n/a
36	CTCF	chr21:46220140-46220290	HVMF	connective:	n/a	n/a
37	CTCF	chr21:46220140-46220290	BJ	skin:	n/a	n/a
38	CTCF	chr21:46220140-46220290	GM12864	blood:	n/a	n/a
39	CTCF	chr21:46220100-46220250	NHLF	lung:	n/a	n/a
40	CTCF	chr21:46220084-46220305	K562	blood:	n/a	n/a
41	CTCF	chr21:46220140-46220290	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr21:46220140-46220290	AG09319	gingival:	n/a	n/a
43	CTCF	chr21:46220160-46220263	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr21:46220051-46220368	IMR90	lung:	n/a	n/a
45	CTCF	chr21:46220080-46220230	GM12873	blood:	n/a	n/a
46	CTCF	chr21:46220100-46220250	SAEC	small airway:	n/a	n/a
47	RAD21	chr21:46219896-46220483	MCF-7	breast:	n/a	n/a
48	CTCF	chr21:46220100-46220250	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr21:46220140-46220290	GM12875	blood:	n/a	n/a
50	CTCF	chr21:46220128-46220258	GM19240	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46220161-46220211	RPTEC	kidney:	n/a
2	chr21:46220161-46220211	GM12878	blood:	n/a
3	chr21:46220161-46220211	GM12892	blood:	n/a
4	chr21:46220161-46220211	Hepatocyte	liver:	n/a
5	chr21:46220161-46220211	HCT-116	colon:	n/a
6	chr21:46220161-46220211	SAEC	small airway:	n/a
7	chr21:46220161-46220211	AoSMC	blood vessel:	n/a
8	chr21:46220161-46220211	AG10803	skin:	n/a
9	chr21:46220161-46220211	CMK	blood:	n/a
10	chr21:46220161-46220211	GM06990	blood:	n/a
11	chr21:46220161-46220211	Hela-S3	cervix:	n/a
12	chr21:46220161-46220211	MCF-7	breast:	n/a
13	chr21:46220161-46220211	SK-N-SH_RA	brain:	n/a
14	chr21:46220161-46220211	IMR90	lung:	fetal
15	chr21:46220161-46220211	GM12891	blood:	n/a
16	chr21:46220161-46220211	MCF10A-Er-Src	breast:	n/a
17	chr21:46220161-46220211	AG09309	skin:	n/a
18	chr21:46220161-46220211	HRPEpiC	eye:	n/a
19	chr21:46220161-46220211	Caco-2	colon:	n/a
20	chr21:46220161-46220211	GM19239	blood:	n/a
21	chr21:46220161-46220211	HCF	heart:	n/a
22	chr21:46220161-46220211	ovcar-3	ovarian:	n/a
23	chr21:46220161-46220211	HAEpiC	amniotic membrane:	n/a
24	chr21:46220161-46220211	Jurkat	blood:	n/a
25	chr21:46220161-46220211	ProgFib	skin:	n/a
26	chr21:46220161-46220211	HEEpiC	esophagus:	n/a
27	chr21:46220161-46220211	HNPCEpiC	eye:	n/a
28	chr21:46220161-46220211	HEK293	kidney:	embryo
29	chr21:46220161-46220211	AG04449	skin:	fetal
30	chr21:46220161-46220211	HIPEpiC	eye:	n/a
31	chr21:46220161-46220211	HPAEpiC	pulmonary alveolar:	n/a
32	chr21:46220161-46220211	A549	lung:	n/a
33	chr21:46220161-46220211	ECC-1	luminal epithelium:	n/a
34	chr21:46220161-46220211	T-47D	breast:	n/a
35	chr21:46220161-46220211	HRCEpiC	kidney:	n/a
36	chr21:46220161-46220211	U87	brain:	n/a
37	chr21:46220161-46220211	SK-N-SH	brain:	n/a
38	chr21:46220161-46220211	NHBE	bronchial:	n/a
39	chr21:46220161-46220211	SKMC	muscle:	n/a
40	chr21:46220161-46220211	PFSK-1	brain:	n/a
41	chr21:46220161-46220211	HL-60	blood:	n/a
42	chr21:46220161-46220211	NHDF-neo	bronchial:	n/a
43	chr21:46220161-46220211	NB4	blood:	n/a
44	chr21:46220161-46220211	AG09319	gingival:	n/a
45	chr21:46220161-46220211	PrEC	prostate:	n/a
46	chr21:46220161-46220211	BE2_C	brain:	n/a
47	chr21:46220161-46220211	NH-A	brain:	n/a
48	chr21:46220161-46220211	HMEC	breast:	n/a
49	chr21:46220161-46220211	HRE	kidney:	n/a
50	chr21:46220161-46220211	HepG2	liver:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
2	chr21:45928985..45931297-chr21:46219796..46221889,2	MCF-7	breast:
3	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
4	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
5	chr21:46219434..46222664-chr21:46346417..46349763,6	MCF-7	breast:
6	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
7	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
8	chr21:46220083..46220610-chr21:46295309..46295835,2	MCF-7	breast:
9	chr21:46218496..46222154-chr21:46279503..46283710,3	MCF-7	breast:
10	chr21:46219770..46220689-chr21:46548247..46548881,2	MCF-7	breast:
11	chr21:45927714..45931885-chr21:46220128..46224260,6	MCF-7	breast:
12	chr20:45984634..45987262-chr21:46219843..46222143,2	MCF-7	breast:
13	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
14	chr21:46219746..46220652-chr21:46256461..46257271,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTTG1IP-1	chr21:46219905-46221313	NONHSAT082879

No data

Variant related genes	Relation type
ENSG00000236519	TF binding region
ENSG00000236519	CpG island
ENSG00000268856	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1071792	0.98[ASN][1000 genomes]
rs11088963	0.83[ASN][1000 genomes]
rs1109280	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs11701732	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11702064	0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11702743	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13049657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13050872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1821431	0.86[ASN][1000 genomes]
rs2294157	0.86[ASN][1000 genomes]
rs2838674	0.81[EUR][1000 genomes]
rs2838678	0.86[ASN][1000 genomes]
rs2838686	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2838699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35209090	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35933313	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3788136	0.86[JPT][hapmap]
rs4239838	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4818975	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs62220109	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6518204	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71322592	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7281735	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs760430	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs760431	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs8103	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs876812	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:46205200-46220400	Weak transcription	Aorta	Aorta
7	chr21:46205200-46220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:46211600-46220400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:46211800-46220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:46212000-46220400	Weak transcription	Colonic Mucosa	Colon
11	chr21:46212400-46220400	Weak transcription	Spleen	Spleen
12	chr21:46213400-46220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:46213400-46220400	Weak transcription	Brain Angular Gyrus	brain
14	chr21:46214200-46220400	Weak transcription	Gastric	stomach
15	chr21:46215600-46220400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:46215800-46220200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:46215800-46220200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:46218000-46220200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr21:46218200-46220400	Enhancers	Fetal Lung	lung
20	chr21:46218800-46220400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr21:46218800-46220800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:46219000-46220400	Weak transcription	Fetal Stomach	stomach
23	chr21:46219200-46220400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:46219200-46220400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr21:46219200-46220800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr21:46219200-46220800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:46219400-46220200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr21:46219400-46220400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr21:46219400-46220400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:46219400-46220400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:46219400-46220400	Enhancers	Adipose Nuclei	Adipose
32	chr21:46219400-46220400	Enhancers	Liver	Liver
33	chr21:46219400-46220600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr21:46219400-46220800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr21:46219400-46221000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr21:46219600-46220200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr21:46219600-46220200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:46219600-46220200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:46219600-46220200	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr21:46219600-46220200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr21:46219600-46220200	Enhancers	Duodenum Mucosa	Duodenum
42	chr21:46219600-46220200	Enhancers	Stomach Smooth Muscle	stomach
43	chr21:46219600-46220400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr21:46219600-46220400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr21:46219600-46220400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:46219600-46220400	Enhancers	Fetal Intestine Small	intestine
47	chr21:46219600-46220400	Enhancers	Psoas Muscle	Psoas
48	chr21:46219600-46220800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr21:46219600-46221400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:46219800-46220200	Flanking Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links