Variant report

Variant	rs367693995
Chromosome Location	chr21:45874936-45874937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP4	chr21:45874778-45875488	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr21:45874739-45875282	HepG2	liver:	n/a	n/a
3	REST	chr21:45874838-45876003	H1-neurons	neurons:	n/a	chr21:45875806-45875826
4	SP1	chr21:45874864-45875385	HepG2	liver:	n/a	chr21:45875104-45875114
5	CHD2	chr21:45874928-45875272	H1-hESC	embryonic stem cell:	n/a	n/a
6	NANOG	chr21:45874919-45875157	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr21:45874851-45875377	A549	lung:	n/a	chr21:45875104-45875114
8	EGR1	chr21:45874794-45875473	MCF-7	breast:	n/a	chr21:45875286-45875300 chr21:45875106-45875119 chr21:45875240-45875254
9	SP1	chr21:45874872-45875368	H1-hESC	embryonic stem cell:	n/a	chr21:45875104-45875114
10	SP4	chr21:45874866-45875360	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr21:45874910-45875482	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr21:45874375-45876412	SK-N-SH	brain:	n/a	chr21:45876304-45876319 chr21:45875953-45875962
13	IRF1	chr21:45874921-45875450	K562	blood:	n/a	n/a
14	SIN3A	chr21:45874743-45875091	H1-hESC	embryonic stem cell:	n/a	chr21:45874806-45874815
15	SP1	chr21:45874767-45875426	H1-hESC	embryonic stem cell:	n/a	chr21:45875104-45875114
16	MXI1	chr21:45874889-45876123	HepG2	liver:	n/a	chr21:45875953-45875962

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45874886-45874936	HEK293	kidney:	embryo
2	chr21:45874886-45874936	GM06990	blood:	n/a
3	chr21:45874886-45874936	Hepatocyte	liver:	n/a
4	chr21:45874886-45874936	AG04449	skin:	fetal
5	chr21:45874886-45874936	GM19239	blood:	n/a
6	chr21:45874886-45874936	NT2-D1	testis:	n/a
7	chr21:45874886-45874936	HRPEpiC	eye:	n/a
8	chr21:45874886-45874936	Hela-S3	cervix:	n/a
9	chr21:45874886-45874936	T-47D	breast:	n/a
10	chr21:45874886-45874936	HEEpiC	esophagus:	n/a
11	chr21:45874886-45874936	SKMC	muscle:	n/a
12	chr21:45874886-45874936	HNPCEpiC	eye:	n/a
13	chr21:45874886-45874936	MCF10A-Er-Src	breast:	n/a
14	chr21:45874886-45874936	HRE	kidney:	n/a
15	chr21:45874886-45874936	MCF-7	breast:	n/a
16	chr21:45874886-45874936	SAEC	small airway:	n/a
17	chr21:45874886-45874936	HCM	heart:	n/a
18	chr21:45874886-45874936	HIPEpiC	eye:	n/a
19	chr21:45874886-45874936	ovcar-3	ovarian:	n/a
20	chr21:45874886-45874936	GM12891	blood:	n/a
21	chr21:45874886-45874936	AG09319	gingival:	n/a
22	chr21:45874886-45874936	ProgFib	skin:	n/a
23	chr21:45874886-45874936	AoSMC	blood vessel:	n/a
24	chr21:45874886-45874936	NHDF-neo	bronchial:	n/a
25	chr21:45874886-45874936	IMR90	lung:	fetal
26	chr21:45874886-45874936	SK-N-SH	brain:	n/a
27	chr21:45874886-45874936	Jurkat	blood:	n/a
28	chr21:45874886-45874936	PrEC	prostate:	n/a
29	chr21:45874886-45874936	BJ	skin:	n/a
30	chr21:45874886-45874936	GM12892	blood:	n/a
31	chr21:45874886-45874936	GM12878	blood:	n/a
32	chr21:45874886-45874936	SK-N-SH_RA	brain:	n/a
33	chr21:45874886-45874936	CMK	blood:	n/a
34	chr21:45874886-45874936	HCT-116	colon:	n/a
35	chr21:45874886-45874936	PANC-1	pancreas:	n/a
36	chr21:45874886-45874936	SK-N-MC	brain:	n/a
37	chr21:45874886-45874936	ECC-1	luminal epithelium:	n/a
38	chr21:45874886-45874936	HCF	heart:	n/a
39	chr21:45874886-45874936	AG04450	lung:	fetal
40	chr21:45874886-45874936	PFSK-1	brain:	n/a
41	chr21:45874886-45874936	RPTEC	kidney:	n/a
42	chr21:45874886-45874936	BE2_C	brain:	n/a
43	chr21:45874886-45874936	HCPEpiC	choroid plexus:	n/a
44	chr21:45874886-45874936	AG09309	skin:	n/a
45	chr21:45874886-45874936	AG10803	skin:	n/a
46	chr21:45874886-45874936	LNCaP	prostate:	n/a
47	chr21:45874886-45874936	HMEC	breast:	n/a
48	chr21:45874886-45874936	HepG2	liver:	n/a
49	chr21:45874886-45874936	HL-60	blood:	n/a
50	chr21:45874886-45874936	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
2	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
3	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:

No data

Variant related genes	Relation type
LRRC3DN	TF binding region
LRRC3	TF binding region
LRRC3DN	CpG island
LRRC3	CpG island
ENSG00000269430	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
17	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	nsv913947	chr21:45852949-45885589	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	esv3362556	chr21:45874049-45876897	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv3395562	chr21:45874349-45876522	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45873800-45876800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:45874400-45875000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr21:45874400-45875000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr21:45874400-45875000	ZNF genes & repeats	Spleen	Spleen
5	chr21:45874400-45875600	Active TSS	Primary B cells from cord blood	blood
6	chr21:45874400-45875800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr21:45874400-45875800	Active TSS	Primary T cells from cord blood	blood
8	chr21:45874400-45876600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr21:45874600-45875000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr21:45874600-45875000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr21:45874600-45875000	Enhancers	Fetal Heart	heart
12	chr21:45874600-45875200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr21:45874600-45875200	Enhancers	Liver	Liver
14	chr21:45874600-45875200	Enhancers	Fetal Brain Male	brain
15	chr21:45874600-45875400	Enhancers	Primary B cells from peripheral blood	blood
16	chr21:45874600-45875400	Bivalent Enhancer	Fetal Thymus	thymus
17	chr21:45874600-45875800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr21:45874600-45875800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:45874600-45875800	Active TSS	Left Ventricle	heart
22	chr21:45874600-45876000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr21:45874600-45876000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:45874600-45876000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr21:45874600-45876000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr21:45874600-45876200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:45874600-45876200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45874600-45876200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr21:45874600-45876200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr21:45874600-45876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:45874600-45876600	Active TSS	Rectal Smooth Muscle	rectum
32	chr21:45874800-45875000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr21:45874800-45875000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:45874800-45875000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:45874800-45875000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr21:45874800-45875000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr21:45874800-45875000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:45874800-45875000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr21:45874800-45875000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:45874800-45875000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:45874800-45875000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:45874800-45875000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:45874800-45875000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:45874800-45875000	Enhancers	Colon Smooth Muscle	Colon
45	chr21:45874800-45875000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr21:45874800-45875000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr21:45874800-45875000	Flanking Active TSS	Lung	lung
48	chr21:45874800-45875000	Flanking Active TSS	Ovary	ovary
49	chr21:45874800-45875000	Bivalent/Poised TSS	Psoas Muscle	Psoas
50	chr21:45874800-45875000	Flanking Active TSS	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links