Variant report

Variant	rs375925200
Chromosome Location	chr4:2935265-2935266
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:2934609-2936285	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:2929559-2936017	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:2934974-2936176	K562	blood:	n/a	n/a
4	POLR2A	chr4:2933146-2935604	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr4:2934499-2935540	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr4:2930058-2935267	GM12892	blood:	n/a	n/a
7	POLR2A	chr4:2929805-2936295	HL-60	blood:	n/a	n/a
8	POLR2A	chr4:2934101-2936177	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:2934760-2935327	GM12878	blood:	n/a	n/a
10	EBF1	chr4:2934652-2935296	GM12878	blood:	n/a	chr4:2934767-2934778 chr4:2934801-2934812
11	POLR2A	chr4:2935154-2937107	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr4:2932735-2936200	U87	brain:	n/a	n/a
13	POLR2A	chr4:2932716-2936132	GM12878	blood:	n/a	n/a
14	MXI1	chr4:2934857-2936419	IMR90	lung:	n/a	n/a
15	MAX	chr4:2935239-2935703	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr4:2930118-2940539	K562	blood:	n/a	n/a
17	E2F4	chr4:2935238-2935290	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:2934659-2935616	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr4:2935262-2936271	A549	lung:	n/a	n/a
20	POLR2A	chr4:2932797-2936194	U87	brain:	n/a	n/a
21	MYC	chr4:2934554-2938040	NB4	blood:	n/a	n/a
22	POLR2A	chr4:2934109-2935469	U87	brain:	n/a	n/a
23	POLR2A	chr4:2935263-2936199	MCF-7	breast:	n/a	n/a
24	POLR2A	chr4:2934707-2935383	GM12891	blood:	n/a	n/a
25	POLR2A	chr4:2934972-2935309	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr4:2931577-2935568	PANC-1	pancreas:	n/a	n/a
27	MAX	chr4:2934511-2936129	NB4	blood:	n/a	n/a
28	FOSL2	chr4:2934797-2935347	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:2934931-2935290	ProgFib	skin:	n/a	n/a
30	POLR2A	chr4:2932743-2935704	HepG2	liver:	n/a	n/a
31	POLR2A	chr4:2934041-2935445	U87	brain:	n/a	n/a
32	POLR2A	chr4:2935201-2935976	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr4:2930108-2936184	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:2930105-2936184	HL-60	blood:	n/a	n/a
35	POLR2A	chr4:2934641-2935539	SK-N-SH	brain:	n/a	n/a
36	MTA3	chr4:2932656-2935304	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:2934526-2935309	GM12892	blood:	n/a	n/a
38	POLR2A	chr4:2934378-2939792	NB4	blood:	n/a	n/a
39	EBF1	chr4:2934653-2935587	GM12878	blood:	n/a	chr4:2934767-2934778 chr4:2934801-2934812
40	POLR2A	chr4:2932303-2935919	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:2756410..2759745-chr4:2935120..2939466,6	K562	blood:
2	chr4:2903718..2915473-chr4:2930612..2941584,27	MCF-7	breast:
3	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
4	chr4:2934778..2935401-chr4:3038500..3039044,2	MCF-7	breast:
5	chr4:2818590..2823604-chr4:2934968..2940177,8	MCF-7	breast:
6	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
7	chr4:2744637..2750348-chr4:2934999..2939149,7	MCF-7	breast:
8	chr4:2866956..2870306-chr4:2932983..2937533,4	K562	blood:
9	chr4:2876022..2879054-chr4:2934409..2936795,3	MCF-7	breast:
10	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
11	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
12	chr4:2756666..2758401-chr4:2934532..2936638,2	MCF-7	breast:
13	chr4:2753882..2759883-chr4:2932429..2941474,15	MCF-7	breast:
14	chr4:2906552..2911481-chr4:2934891..2942965,11	MCF-7	breast:
15	chr4:2798466..2800490-chr4:2934363..2936581,2	K562	blood:
16	chr4:2913655..2916522-chr4:2935033..2937103,2	MCF-7	breast:

No data

Variant related genes	Relation type
MFSD10	TF binding region
NOP14-AS1	TF binding region
ENSG00000087266	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087269	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv3440752	chr4:2934679-2937727	Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3446681	chr4:2934779-2937527	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:2926600-2936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:2932200-2935400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr4:2932200-2935600	Enhancers	Stomach Mucosa	stomach
5	chr4:2932200-2935800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:2932200-2936000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:2932600-2935400	Enhancers	Left Ventricle	heart
8	chr4:2932600-2935400	Genic enhancers	Spleen	Spleen
9	chr4:2932800-2935600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:2933200-2935400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:2933200-2935400	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:2933200-2935600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:2933200-2935800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:2933200-2935800	Flanking Active TSS	GM12878-XiMat	blood
15	chr4:2933400-2935600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:2933400-2935800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:2933400-2936000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr4:2933600-2935600	Weak transcription	Liver	Liver
19	chr4:2933600-2935600	Enhancers	Placenta	Placenta
20	chr4:2933600-2936000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr4:2934000-2935400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr4:2934000-2936000	Enhancers	Fetal Brain Male	brain
23	chr4:2934200-2935400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:2934200-2935400	Genic enhancers	Esophagus	oesophagus
25	chr4:2934200-2937400	Active TSS	HSMM	muscle
26	chr4:2934400-2935400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:2934400-2935400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:2934400-2935400	Transcr. at gene 5' and 3'	NHEK	skin
29	chr4:2934400-2935600	Enhancers	Primary T cells from cord blood	blood
30	chr4:2934400-2935800	Flanking Active TSS	HMEC	breast
31	chr4:2934400-2935800	Transcr. at gene 5' and 3'	NHLF	lung
32	chr4:2934400-2936000	Flanking Active TSS	Dnd41	blood
33	chr4:2934600-2935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:2934600-2935400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:2934600-2935800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:2934600-2935800	Enhancers	Fetal Heart	heart
37	chr4:2934800-2935400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:2934800-2935400	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr4:2934800-2935400	Genic enhancers	Placenta Amnion	Placenta Amnion
40	chr4:2934800-2935600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:2934800-2935600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:2934800-2935600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:2934800-2935600	Enhancers	Brain Angular Gyrus	brain
44	chr4:2934800-2935600	Enhancers	Thymus	Thymus
45	chr4:2934800-2935800	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr4:2934800-2935800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr4:2934800-2935800	Flanking Active TSS	HUVEC	blood vessel
48	chr4:2934800-2935800	Flanking Active TSS	NH-A	brain
49	chr4:2934800-2936000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:2934800-2936000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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