Variant report

Variant	rs571976733
Chromosome Location	chr4:77996398-77996399
allele	G/T
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	POLR2A	chr4:77996102-77998071	H1-neurons	neurons:	n/a	n/a
2	ZBTB7A	chr4:77996208-77997739	ECC-1	luminal epithelium:	n/a	n/a
3	CREB1	chr4:77996340-77996840	A549	lung:	n/a	n/a
4	MYC	chr4:77996277-77998016	NB4	blood:	n/a	chr4:77996878-77996888 chr4:77996958-77996968
5	POLR2A	chr4:77996202-77997940	SK-N-SH	brain:	n/a	n/a
6	MXI1	chr4:77996187-77997724	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:77995775-77998045	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:77996152-77997843	HCT-116	colon:	n/a	n/a
9	POLR2A	chr4:77996197-77997952	MCF-7	breast:	n/a	n/a
10	EBF1	chr4:77996082-77996423	GM12878	blood:	n/a	chr4:77996232-77996241
11	POLR2A	chr4:77996124-77998044	H1-neurons	neurons:	n/a	n/a
12	MAZ	chr4:77996130-77998048	IMR90	lung:	n/a	chr4:77996254-77996264 chr4:77996878-77996888 chr4:77996958-77996968
13	POLR2A	chr4:77996392-77997779	HepG2	liver:	n/a	n/a
14	JUND	chr4:77996187-77998103	GM12878	blood:	n/a	chr4:77997446-77997455
15	SMARCB1	chr4:77996334-77997631	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:77996108-77997996	K562	blood:	n/a	n/a
17	RCOR1	chr4:77996386-77997916	K562	blood:	n/a	n/a
18	CCNT2	chr4:77996296-77997873	K562	blood:	n/a	chr4:77997026-77997035 chr4:77996947-77996956 chr4:77997549-77997558
19	POLR2A	chr4:77996134-77997887	GM18526	blood:	n/a	n/a
20	YY1	chr4:77996306-77997038	HepG2	liver:	n/a	chr4:77996534-77996543 chr4:77996947-77996958 chr4:77996885-77996899 chr4:77996941-77996955 chr4:77996940-77996954 chr4:77996835-77996849 chr4:77996890-77996899 chr4:77996537-77996546 chr4:77996940-77996949
21	ZNF384	chr4:77996250-77997734	K562	blood:	n/a	n/a
22	ZBTB7A	chr4:77996115-77997028	K562	blood:	n/a	n/a
23	TAF1	chr4:77996378-77996910	K562	blood:	n/a	n/a
24	POLR2A	chr4:77996126-77997939	K562	blood:	n/a	n/a
25	JUND	chr4:77996207-77998025	SK-N-SH	brain:	n/a	chr4:77997446-77997455
26	HEY1	chr4:77996123-77997831	K562	blood:	n/a	chr4:77997445-77997454 chr4:77996895-77996910 chr4:77997447-77997456 chr4:77996546-77996561 chr4:77996941-77996956 chr4:77996831-77996846 chr4:77996538-77996553
27	POLR2A	chr4:77996156-77997813	K562	blood:	n/a	n/a
28	POLR2A	chr4:77996242-77998040	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:77995220-77997931	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:77996147-77997976	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr4:77996085-77997991	GM12892	blood:	n/a	n/a
32	POLR2A	chr4:77996227-77997890	K562	blood:	n/a	n/a
33	JUN	chr4:77996182-77998311	K562	blood:	n/a	chr4:77997445-77997458 chr4:77997446-77997455
34	SIN3A	chr4:77996192-77996448	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:77996298-77998121	HepG2	liver:	n/a	n/a
36	CREB1	chr4:77996276-77997984	GM12878	blood:	n/a	chr4:77997444-77997457
37	POLR2A	chr4:77996113-77996568	GM12891	blood:	n/a	n/a
38	POLR2A	chr4:77996131-77997965	HUVEC	blood vessel:	n/a	n/a
39	BHLHE40	chr4:77996277-77996400	K562	blood:	n/a	n/a
40	POLR2A	chr4:77996314-77997863	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr4:77996207-77997944	ProgFib	skin:	n/a	n/a
42	SIN3AK20	chr4:77996114-77996415	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr4:77996138-77997998	U87	brain:	n/a	n/a
44	WRNIP1	chr4:77995450-77996552	GM12878	blood:	n/a	n/a
45	ELF1	chr4:77996161-77997639	GM12878	blood:	n/a	chr4:77996885-77996897 chr4:77996944-77996956 chr4:77997104-77997113 chr4:77997484-77997496 chr4:77997251-77997264
46	TBL1XR1	chr4:77996254-77996456	K562	blood:	n/a	n/a
47	RCOR1	chr4:77996246-77998029	GM12878	blood:	n/a	n/a
48	CREB1	chr4:77996250-77998096	GM12878	blood:	n/a	chr4:77997444-77997457
49	ELF1	chr4:77996358-77997022	K562	blood:	n/a	chr4:77996885-77996897 chr4:77996944-77996956
50	POLR2A	chr4:77995313-77998511	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77869773..77871632-chr4:77995514..77998178,4	K562	blood:
2	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
3	chr4:77975545..77980821-chr4:77994993..77998408,5	MCF-7	breast:
4	chr4:77973346..77979214-chr4:77995835..77998143,7	K562	blood:
5	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:
6	chr4:77995405..77999334-chr4:78000731..78006327,9	MCF-7	breast:
7	chr1:211555944..211556496-chr4:77996087..77996921,2	HCT-116	colon:
8	chr4:77869773..77872075-chr4:77995627..77998726,3	K562	blood:
9	chr4:77994285..77999121-chr4:78003590..78007383,5	K562	blood:
10	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
11	chr4:77870359..77873653-chr4:77995177..77998877,4	MCF-7	breast:
12	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
13	chr4:77995679..77998060-chr4:78068555..78071849,3	K562	blood:
14	chr4:77975437..77978394-chr4:77996359..77998684,2	MCF-7	breast:
15	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:
16	chr4:77996001..77999161-chr4:78070349..78073053,3	K562	blood:
17	chr4:77977102..77979783-chr4:77995512..77998143,3	K562	blood:

Variant related genes	Relation type
CCNI	TF binding region
ENSG00000138764	Chromatin interaction
ENSG00000214062	Chromatin interaction
ENSG00000118816	Chromatin interaction
ENSG00000138758	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000201641	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	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3330627	chr4:77995278-77997926	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3357193	chr4:77995453-77998301	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	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	chr4:77992000-77998200	Active TSS	GM12878-XiMat	blood
2	chr4:77993600-77998200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr4:77993600-77998400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:77993800-77998600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:77994000-77997800	Active TSS	Ovary	ovary
6	chr4:77994000-77998000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:77994000-77998400	Active TSS	Aorta	Aorta
8	chr4:77994000-77998600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr4:77994200-77996600	Active TSS	Right Atrium	heart
10	chr4:77994200-77998000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:77994200-77998000	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr4:77994200-77998000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:77994200-77998200	Active TSS	HSMMtube	muscle
14	chr4:77994200-77998200	Active TSS	NHDF-Ad	bronchial
15	chr4:77994400-77998000	Active TSS	Left Ventricle	heart
16	chr4:77994400-77998000	Active TSS	Right Ventricle	heart
17	chr4:77994400-77998200	Active TSS	Fetal Muscle Trunk	muscle
18	chr4:77994400-77998800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:77994400-77998800	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:77994600-77998200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:77994600-77998200	Active TSS	Primary T cells fromperipheralblood	blood
22	chr4:77994600-77998400	Active TSS	Brain Germinal Matrix	brain
23	chr4:77994600-77998600	Active TSS	Stomach Smooth Muscle	stomach
24	chr4:77994600-77998800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:77994800-77997800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:77994800-77997800	Active TSS	NHEK	skin
27	chr4:77994800-77998000	Active TSS	Colonic Mucosa	Colon
28	chr4:77994800-77998000	Active TSS	Esophagus	oesophagus
29	chr4:77994800-77998000	Active TSS	Fetal Intestine Small	intestine
30	chr4:77994800-77998200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:77994800-77998200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:77995000-77996600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:77995000-77997800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:77995000-77997800	Active TSS	HMEC	breast
35	chr4:77995000-77998000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:77995000-77998000	Active TSS	Brain Substantia Nigra	brain
37	chr4:77995000-77998200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:77995000-77998200	Active TSS	Fetal Brain Male	brain
39	chr4:77995000-77998200	Active TSS	Fetal Brain Female	brain
40	chr4:77995000-77998200	Active TSS	Fetal Thymus	thymus
41	chr4:77995000-77998200	Active TSS	K562	blood
42	chr4:77995000-77998400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:77995000-77998400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr4:77995000-77998400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:77995000-77998400	Active TSS	HSMM	muscle
46	chr4:77995000-77998400	Active TSS	NHLF	lung
47	chr4:77995000-77998600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:77995200-77997800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:77995200-77998000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:77995200-77998200	Active TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links