Variant report

Variant	rs554615051
Chromosome Location	chr3:119012654-119012655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr3:119012583-119012870	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr3:119012557-119014238	GM12878	blood:	n/a	chr3:119013345-119013355 chr3:119012917-119012927
3	POLR2A	chr3:119012596-119014282	GM18505	blood:	n/a	n/a
4	TBP	chr3:119012625-119013616	GM12878	blood:	n/a	n/a
5	SP1	chr3:119012565-119013687	GM12878	blood:	n/a	chr3:119013148-119013162
6	EBF1	chr3:119012567-119013620	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:119012499-119014302	GM12892	blood:	n/a	n/a
8	YY1	chr3:119012619-119012985	H1-hESC	embryonic stem cell:	n/a	chr3:119012964-119012978
9	POLR2A	chr3:119012591-119013716	GM12891	blood:	n/a	n/a
10	RCOR1	chr3:119012486-119014032	GM12878	blood:	n/a	n/a
11	RUNX3	chr3:119012385-119013728	GM12878	blood:	n/a	n/a
12	RFX5	chr3:119012540-119012924	GM12878	blood:	n/a	n/a
13	ZNF263	chr3:119012561-119014293	HEK293-T-REx	kidney:	n/a	chr3:119012916-119012925 chr3:119014190-119014199
14	SIN3AK20	chr3:119012638-119013908	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr3:119012480-119014338	GM12892	blood:	n/a	n/a
16	POLR2A	chr3:119012549-119014275	GM18526	blood:	n/a	n/a
17	POLR2A	chr3:119012526-119014245	GM19099	blood:	n/a	n/a
18	MEF2C	chr3:119012492-119013099	GM12878	blood:	n/a	n/a
19	EP300	chr3:119012412-119012822	SK-N-SH_RA	brain:	n/a	n/a
20	SIN3AK20	chr3:119012629-119013364	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr3:119012436-119013312	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr3:119012614-119014275	GM12892	blood:	n/a	n/a
23	ZNF143	chr3:119012532-119012826	H1-hESC	embryonic stem cell:	n/a	n/a
24	EP300	chr3:119012408-119012871	SK-N-SH_RA	brain:	n/a	n/a
25	TCF7L2	chr3:119012472-119013282	Hela-S3	cervix:	n/a	chr3:119012928-119012937 chr3:119012925-119012939
26	EP300	chr3:119012596-119013034	GM12878	blood:	n/a	chr3:119012940-119012956
27	TBL1XR1	chr3:119012552-119013629	GM12878	blood:	n/a	n/a
28	RCOR1	chr3:119012639-119013018	Hela-S3	cervix:	n/a	n/a
29	SIN3A	chr3:119012516-119014221	H1-hESC	embryonic stem cell:	n/a	n/a
30	POU2F2	chr3:119012508-119014271	GM12878	blood:	n/a	chr3:119013874-119013886 chr3:119012565-119012578 chr3:119012565-119012578
31	POLR2A	chr3:119012511-119013544	SK-N-SH	brain:	n/a	n/a
32	IKZF1	chr3:119012598-119013535	GM12878	blood:	n/a	n/a
33	RELA	chr3:119012499-119014254	GM18951	blood:	n/a	n/a
34	EBF1	chr3:119012465-119013876	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:119012347-119014210	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:119012642-119014148	GM12892	blood:	n/a	n/a
37	MXI1	chr3:119012051-119014329	IMR90	lung:	n/a	n/a
38	TCF7L2	chr3:119012496-119013273	MCF-7	breast:	n/a	chr3:119012928-119012937 chr3:119012925-119012939
39	POLR2A	chr3:119012556-119014232	GM15510	blood:	n/a	n/a
40	MAX	chr3:119012573-119014384	A549	lung:	n/a	chr3:119013875-119013885
41	NFYB	chr3:119012588-119012907	GM12878	blood:	n/a	n/a
42	STAT5A	chr3:119012592-119013360	GM12878	blood:	n/a	chr3:119012816-119012827
43	RUNX3	chr3:119012370-119013672	GM12878	blood:	n/a	n/a
44	YY1	chr3:119012618-119013298	GM12878	blood:	n/a	chr3:119012964-119012978 chr3:119013006-119013017
45	MXI1	chr3:119012458-119014215	GM12878	blood:	n/a	n/a
46	MXI1	chr3:119011830-119016982	SK-N-SH	brain:	n/a	n/a
47	MAZ	chr3:119012578-119014195	GM12878	blood:	n/a	chr3:119013875-119013885
48	RELA	chr3:119012456-119014159	GM19099	blood:	n/a	n/a
49	POLR2A	chr3:119012635-119014330	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr3:119012497-119014340	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
2	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
3	chr3:119011961..119014558-chr3:119015081..119019200,4	MCF-7	breast:
4	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:

Variant related genes	Relation type
ARHGAP31	TF binding region
RPS26P21	TF binding region
ENSG00000241155	Chromatin interaction
ENSG00000242829	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr3:119008800-119012800	Weak transcription	Spleen	Spleen
2	chr3:119011400-119012800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr3:119011600-119012800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:119011800-119012800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:119011800-119014000	Flanking Bivalent TSS/Enh	Dnd41	blood
6	chr3:119012000-119012800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:119012000-119012800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr3:119012000-119012800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr3:119012000-119012800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:119012200-119012800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr3:119012200-119012800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:119012200-119012800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr3:119012200-119012800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr3:119012200-119012800	Flanking Active TSS	HSMMtube	muscle
15	chr3:119012200-119012800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr3:119012200-119012800	Flanking Active TSS	Osteobl	bone
17	chr3:119012200-119013000	Flanking Active TSS	Fetal Thymus	thymus
18	chr3:119012200-119014200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr3:119012200-119014400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:119012200-119014800	Active TSS	NHDF-Ad	bronchial
21	chr3:119012200-119015000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:119012200-119015600	Active TSS	Fetal Muscle Trunk	muscle
23	chr3:119012400-119012800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:119012400-119012800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr3:119012400-119012800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr3:119012400-119012800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr3:119012400-119012800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:119012400-119012800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr3:119012400-119012800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr3:119012400-119012800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr3:119012400-119012800	Flanking Active TSS	Fetal Brain Female	brain
32	chr3:119012400-119012800	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr3:119012400-119012800	Flanking Active TSS	Fetal Lung	lung
34	chr3:119012400-119012800	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr3:119012400-119012800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr3:119012400-119012800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr3:119012400-119012800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr3:119012400-119012800	Flanking Active TSS	Hela-S3	cervix
39	chr3:119012400-119012800	Flanking Active TSS	NH-A	brain
40	chr3:119012400-119013000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:119012400-119013000	Flanking Active TSS	HMEC	breast
42	chr3:119012400-119013000	Flanking Active TSS	HSMM	muscle
43	chr3:119012400-119013000	Flanking Active TSS	HUVEC	blood vessel
44	chr3:119012400-119013200	Flanking Active TSS	Fetal Brain Male	brain
45	chr3:119012400-119013400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr3:119012400-119013400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:119012400-119013400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:119012400-119013400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr3:119012400-119013800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:119012400-119013800	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links