Variant report

Variant	rs575644237
Chromosome Location	chr3:191046558-191046559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr3:191046338-191047425	K562	blood:	n/a	chr3:191047106-191047122
2	STAT5A	chr3:191046490-191047404	GM12878	blood:	n/a	chr3:191047112-191047124
3	MTA3	chr3:191046498-191047642	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:191046161-191048563	GM19193	blood:	n/a	n/a
5	FOS	chr3:191046513-191046818	MCF10A-Er-Src	breast:	n/a	chr3:191046637-191046648
6	POLR2A	chr3:191045952-191047725	PFSK-1	brain:	n/a	n/a
7	MAFK	chr3:191046494-191046899	K562	blood:	n/a	n/a
8	EP300	chr3:191046362-191047392	K562	blood:	n/a	n/a
9	POLR2A	chr3:191046549-191048828	HUVEC	blood vessel:	n/a	n/a
10	RELA	chr3:191046517-191048835	GM18951	blood:	n/a	n/a
11	BHLHE40	chr3:191046462-191047422	GM12878	blood:	n/a	chr3:191047106-191047122
12	HA-E2F1	chr3:191046077-191048374	MCF-7	breast:	n/a	chr3:191048046-191048058
13	POLR2A	chr3:191046404-191047614	K562	blood:	n/a	n/a
14	POLR2A	chr3:191046439-191048127	GM12878	blood:	n/a	n/a
15	USF2	chr3:191046547-191046780	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr3:191046448-191047420	PFSK-1	brain:	n/a	n/a
17	RUNX3	chr3:191046367-191047463	GM12878	blood:	n/a	n/a
18	KAP1	chr3:191046053-191047043	U2OS	brain:	n/a	n/a
19	HCFC1	chr3:191046494-191047943	K562	blood:	n/a	n/a
20	POLR2A	chr3:191046555-191047599	HepG2	liver:	n/a	n/a
21	TBL1XR1	chr3:191046370-191047299	K562	blood:	n/a	n/a
22	NR2F2	chr3:191045930-191047215	K562	blood:	n/a	n/a
23	RCOR1	chr3:191046379-191049021	Hela-S3	cervix:	n/a	n/a
24	CCNT2	chr3:191046374-191047877	K562	blood:	n/a	chr3:191047115-191047124
25	POLR2A	chr3:191046375-191046739	K562	blood:	n/a	n/a
26	MAX	chr3:191046386-191048027	K562	blood:	n/a	n/a
27	NFIC	chr3:191046499-191047342	GM12878	blood:	n/a	n/a
28	NR2F2	chr3:191046395-191047215	K562	blood:	n/a	n/a
29	CUX1	chr3:191046420-191047351	K562	blood:	n/a	n/a
30	POLR2A	chr3:191046465-191048917	Hela-S3	cervix:	n/a	n/a
31	WRNIP1	chr3:191046161-191047171	GM12878	blood:	n/a	n/a
32	CBX3	chr3:191046289-191047334	K562	blood:	n/a	n/a
33	CEBPB	chr3:191046296-191046804	K562	blood:	n/a	n/a
34	E2F6	chr3:191046304-191047634	K562	blood:	n/a	n/a
35	RAD21	chr3:191046551-191047241	Hela-S3	cervix:	n/a	n/a
36	MAFF	chr3:191046388-191046774	K562	blood:	n/a	n/a
37	CEBPD	chr3:191046175-191047360	K562	blood:	n/a	n/a
38	POLR2A	chr3:191046459-191049825	IMR90	lung:	n/a	n/a
39	POLR2A	chr3:191046407-191048524	GM18951	blood:	n/a	n/a
40	FOSL1	chr3:191046458-191046724	K562	blood:	n/a	n/a
41	USF2	chr3:191046403-191047153	GM12878	blood:	n/a	chr3:191047106-191047122
42	CREB1	chr3:191046317-191047435	K562	blood:	n/a	n/a
43	POLR2A	chr3:191046551-191047842	K562	blood:	n/a	n/a
44	REST	chr3:191046420-191047396	H1-neurons	neurons:	n/a	chr3:191047114-191047127
45	FOS	chr3:191046510-191047143	MCF10A-Er-Src	breast:	n/a	chr3:191046637-191046648 chr3:191047131-191047140
46	POLR2A	chr3:191046545-191048343	GM12892	blood:	n/a	n/a
47	SMARCC1	chr3:191046178-191049116	Hela-S3	cervix:	n/a	n/a
48	FOSL1	chr3:191046380-191046888	K562	blood:	n/a	n/a
49	STAT1	chr3:191046490-191047263	GM12878	blood:	n/a	chr3:191047112-191047124
50	RCOR1	chr3:191046244-191047482	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:191046547-191046597	NT2-D1	testis:	n/a
2	chr3:191046547-191046597	IMR90	lung:	fetal
3	chr3:191046547-191046597	RPTEC	kidney:	n/a
4	chr3:191046547-191046597	Caco-2	colon:	n/a
5	chr3:191046547-191046597	AG04450	lung:	fetal
6	chr3:191046547-191046597	SK-N-MC	brain:	n/a
7	chr3:191046547-191046597	Hela-S3	cervix:	n/a
8	chr3:191046547-191046597	Hepatocyte	liver:	n/a
9	chr3:191046547-191046597	NB4	blood:	n/a
10	chr3:191046547-191046597	HepG2	liver:	n/a
11	chr3:191046547-191046597	SK-N-SH	brain:	n/a
12	chr3:191046547-191046597	HCF	heart:	n/a
13	chr3:191046547-191046597	H1-hESC	embryonic stem cell:	embryo
14	chr3:191046547-191046597	AG09309	skin:	n/a
15	chr3:191046547-191046597	K562	blood:	n/a
16	chr3:191046547-191046597	HCT-116	colon:	n/a
17	chr3:191046547-191046597	MCF10A-Er-Src	breast:	n/a
18	chr3:191046547-191046597	HIPEpiC	eye:	n/a
19	chr3:191046547-191046597	NHDF-neo	bronchial:	n/a
20	chr3:191046547-191046597	PrEC	prostate:	n/a
21	chr3:191046547-191046597	HRE	kidney:	n/a
22	chr3:191046547-191046597	GM06990	blood:	n/a
23	chr3:191046547-191046597	HRPEpiC	eye:	n/a
24	chr3:191046547-191046597	HCM	heart:	n/a
25	chr3:191046547-191046597	GM12878	blood:	n/a
26	chr3:191046547-191046597	T-47D	breast:	n/a
27	chr3:191046547-191046597	Jurkat	blood:	n/a
28	chr3:191046547-191046597	HAEpiC	amniotic membrane:	n/a
29	chr3:191046547-191046597	HNPCEpiC	eye:	n/a
30	chr3:191046547-191046597	HEEpiC	esophagus:	n/a
31	chr3:191046547-191046597	AG09319	gingival:	n/a
32	chr3:191046547-191046597	GM19239	blood:	n/a
33	chr3:191046547-191046597	NH-A	brain:	n/a
34	chr3:191046547-191046597	ovcar-3	ovarian:	n/a
35	chr3:191046547-191046597	HUVEC	blood vessel:	n/a
36	chr3:191046547-191046597	ECC-1	luminal epithelium:	n/a
37	chr3:191046547-191046597	AG04449	skin:	fetal
38	chr3:191046547-191046597	SK-N-SH_RA	brain:	n/a
39	chr3:191046547-191046597	HEK293	kidney:	embryo
40	chr3:191046547-191046597	GM12892	blood:	n/a
41	chr3:191046547-191046597	GM12891	blood:	n/a
42	chr3:191046547-191046597	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:191046547-191046597	AG10803	skin:	n/a
44	chr3:191046547-191046597	HCPEpiC	choroid plexus:	n/a
45	chr3:191046547-191046597	BE2_C	brain:	n/a
46	chr3:191046547-191046597	HMEC	breast:	n/a
47	chr3:191046547-191046597	MCF-7	breast:	n/a
48	chr3:191046547-191046597	PANC-1	pancreas:	n/a
49	chr3:191046547-191046597	SKMC	muscle:	n/a
50	chr3:191046547-191046597	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:191032916..191035495-chr3:191046200..191047748,2	MCF-7	breast:
2	chr16:8962585..8963523-chr3:191046236..191047148,2	Hela-S3	cervix:
3	chr3:191045177..191046733-chr3:191083021..191085089,2	K562	blood:

No data

Variant related genes	Relation type
CCDC50	TF binding region
CCDC50	CpG island
ENSG00000261481	Chromatin interaction
ENSG00000188958	Chromatin interaction
ENSG00000153048	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised 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	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv3325773	chr3:191046083-191048631	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv10370	chr3:191046223-191049560	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191045200-191046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:191045400-191046600	Enhancers	HUVEC	blood vessel
3	chr3:191045600-191046600	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:191045800-191046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:191045800-191046600	Flanking Active TSS	HepG2	liver
6	chr3:191046000-191046600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:191046000-191046600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:191046000-191046600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:191046000-191046600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:191046000-191046600	Enhancers	Adipose Nuclei	Adipose
11	chr3:191046000-191046600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:191046000-191046600	Enhancers	Fetal Intestine Small	intestine
13	chr3:191046000-191046600	Enhancers	Fetal Thymus	thymus
14	chr3:191046000-191046600	Enhancers	Left Ventricle	heart
15	chr3:191046000-191046600	Enhancers	K562	blood
16	chr3:191046000-191046800	Enhancers	Spleen	Spleen
17	chr3:191046200-191046600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:191046200-191046600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:191046200-191046600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr3:191046200-191046600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:191046200-191046600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:191046200-191046600	Enhancers	Primary B cells from cord blood	blood
23	chr3:191046200-191046600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr3:191046200-191046600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr3:191046200-191046600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:191046200-191046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:191046200-191046600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:191046200-191046600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:191046200-191046600	Enhancers	Brain Substantia Nigra	brain
30	chr3:191046200-191046600	Enhancers	Fetal Muscle Leg	muscle
31	chr3:191046200-191046600	Enhancers	Fetal Stomach	stomach
32	chr3:191046200-191046600	Enhancers	Lung	lung
33	chr3:191046200-191046600	Enhancers	Ovary	ovary
34	chr3:191046200-191046600	Enhancers	Right Atrium	heart
35	chr3:191046200-191046600	Enhancers	Right Ventricle	heart
36	chr3:191046200-191046800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
37	chr3:191046200-191046800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:191046200-191046800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:191046200-191046800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr3:191046200-191046800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:191046200-191046800	Flanking Active TSS	Fetal Brain Female	brain
42	chr3:191046200-191046800	Flanking Active TSS	Fetal Kidney	kidney
43	chr3:191046200-191046800	Enhancers	Pancreas	Pancrea
44	chr3:191046200-191047000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:191046200-191047000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr3:191046200-191047000	Flanking Active TSS	Hela-S3	cervix
47	chr3:191046200-191049200	Active TSS	Brain Angular Gyrus	brain
48	chr3:191046200-191049800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:191046200-191049800	Active TSS	Stomach Smooth Muscle	stomach
50	chr3:191046400-191046600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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