Variant report

Variant	rs231333
Chromosome Location	chr4:2796970-2796971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:2796439-2796995	MCF10A-Er-Src	breast:	n/a	n/a
2	MAZ	chr4:2795172-2797101	IMR90	lung:	n/a	chr4:2796846-2796857
3	EP300	chr4:2796795-2796980	HepG2	liver:	n/a	n/a
4	RCOR1	chr4:2796650-2797059	Hela-S3	cervix:	n/a	n/a
5	EP300	chr4:2795359-2797144	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr4:2795202-2796999	U87	brain:	n/a	n/a
7	CHD2	chr4:2796738-2797003	HepG2	liver:	n/a	n/a
8	MAX	chr4:2795346-2797194	HepG2	liver:	n/a	chr4:2795869-2795879 chr4:2796846-2796857
9	POLR2A	chr4:2795208-2796999	U87	brain:	n/a	n/a
10	MAX	chr4:2795191-2797016	A549	lung:	n/a	chr4:2795869-2795879 chr4:2796846-2796857
11	MXI1	chr4:2794372-2797373	IMR90	lung:	n/a	n/a
12	MYBL2	chr4:2796589-2796978	HepG2	liver:	n/a	n/a
13	TFAP2C	chr4:2795429-2797065	Hela-S3	cervix:	n/a	chr4:2795932-2795947
14	RCOR1	chr4:2794917-2797027	IMR90	lung:	n/a	n/a
15	POLR2A	chr4:2796594-2796990	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
2	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
3	chr4:2764307..2766029-chr4:2796007..2799885,3	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2795244..2797486-chr4:2845439..2847269,2	MCF-7	breast:
6	chr4:2795938..2798748-chr4:2909831..2911364,2	MCF-7	breast:
7	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
8	chr4:2795940..2798085-chr4:2962031..2964351,2	MCF-7	breast:
9	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
10	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
11	chr4:2794820..2799191-chr4:2824314..2827597,4	MCF-7	breast:
12	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:

No data

Variant related genes	Relation type
SH3BP2	TF binding region
ENSG00000109736	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10001883	0.83[EUR][1000 genomes]
rs11722784	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11947936	0.82[EUR][1000 genomes]
rs13103393	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2003806	0.82[EUR][1000 genomes]
rs231331	0.96[AFR][1000 genomes]
rs231332	0.97[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs231340	0.89[AFR][1000 genomes]
rs28522320	0.83[EUR][1000 genomes]
rs28532194	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs426940	0.92[AFR][1000 genomes]
rs755137	0.82[EUR][1000 genomes]
rs7659744	0.83[EUR][1000 genomes]
rs7695195	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv967941	chr4:2765555-2802771	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription 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
16	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
21	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2794800-2797200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr4:2794800-2797200	Flanking Active TSS	Placenta	Placenta
3	chr4:2795200-2797000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr4:2795200-2797200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:2795200-2797800	Enhancers	Fetal Heart	heart
6	chr4:2795400-2797000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr4:2795400-2797000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:2795400-2797000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr4:2795400-2797000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr4:2795400-2797000	Flanking Active TSS	A549	lung
11	chr4:2795400-2797000	Flanking Active TSS	Osteobl	bone
12	chr4:2795400-2797200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr4:2795400-2797800	Flanking Active TSS	Liver	Liver
14	chr4:2795400-2801400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:2795600-2797000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:2795600-2797000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:2795600-2797000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:2795600-2797000	Flanking Active TSS	Colonic Mucosa	Colon
19	chr4:2795600-2797000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:2795600-2797000	Flanking Active TSS	NH-A	brain
21	chr4:2795600-2797200	Enhancers	HSMMtube	muscle
22	chr4:2795600-2797400	Flanking Active TSS	HepG2	liver
23	chr4:2795600-2797400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr4:2795600-2797600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr4:2795600-2797600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr4:2795600-2799000	Flanking Active TSS	Hela-S3	cervix
27	chr4:2795800-2797000	Bivalent Enhancer	Fetal Thymus	thymus
28	chr4:2795800-2797000	Enhancers	Ovary	ovary
29	chr4:2795800-2797200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:2795800-2797200	Enhancers	Psoas Muscle	Psoas
31	chr4:2795800-2797600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:2795800-2797800	Enhancers	Fetal Kidney	kidney
33	chr4:2795800-2798800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:2795800-2799000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:2795800-2799000	Enhancers	Small Intestine	intestine
36	chr4:2795800-2799200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:2795800-2803000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:2796000-2797000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:2796000-2797000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:2796000-2797000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:2796000-2797000	Enhancers	Brain Angular Gyrus	brain
42	chr4:2796000-2797000	Enhancers	Colon Smooth Muscle	Colon
43	chr4:2796000-2797200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr4:2796000-2797200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:2796000-2797200	Enhancers	Fetal Lung	lung
46	chr4:2796000-2797200	Enhancers	GM12878-XiMat	blood
47	chr4:2796000-2797400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:2796000-2797400	Enhancers	Brain Substantia Nigra	brain
49	chr4:2796000-2797400	Enhancers	K562	blood
50	chr4:2796000-2797600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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