Variant report

Variant	rs11934244
Chromosome Location	chr4:2815806-2815807
allele	C/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	chr4:2815406-2816239	HL-60	blood:	n/a	n/a
2	POU2F2	chr4:2815723-2816464	GM12878	blood:	n/a	chr4:2816270-2816280 chr4:2816270-2816279 chr4:2816091-2816103 chr4:2816271-2816278 chr4:2816270-2816280
3	MTA3	chr4:2813221-2816423	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:2815241-2816487	GM12878	blood:	n/a	n/a
5	RUNX3	chr4:2815481-2816257	GM12878	blood:	n/a	chr4:2815970-2815987
6	USF1	chr4:2815658-2815832	HepG2	liver:	n/a	chr4:2815759-2815770
7	MAX	chr4:2815788-2815962	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:2815418-2816325	GM12878	blood:	n/a	chr4:2816097-2816113 chr4:2816089-2816105
9	STAT5A	chr4:2814412-2816129	GM12878	blood:	n/a	chr4:2814848-2814856
10	POLR2A	chr4:2815313-2816045	GM12892	blood:	n/a	n/a
11	EBF1	chr4:2815530-2816163	GM12878	blood:	n/a	chr4:2815996-2816007
12	POLR2A	chr4:2815136-2815908	GM12892	blood:	n/a	n/a
13	RUNX3	chr4:2814703-2816204	GM12878	blood:	n/a	chr4:2815970-2815987
14	POLR2A	chr4:2815675-2816040	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2815555..2818329-chr4:2819380..2822501,3	MCF-7	breast:
2	chr4:2811128..2813446-chr4:2813847..2818794,5	MCF-7	breast:
3	chr4:2815294..2817110-chr4:2817843..2820313,2	K562	blood:

Variant related genes	Relation type
SH3BP2	TF binding region
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16843167	0.89[ASN][1000 genomes]
rs16843419	0.89[ASN][1000 genomes]
rs231398	0.80[EUR][1000 genomes]
rs58342359	0.89[ASN][1000 genomes]
rs59360049	0.89[ASN][1000 genomes]
rs62620003	0.89[ASN][1000 genomes]
rs73082303	0.89[ASN][1000 genomes]
rs743694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs755137	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2803400-2819200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:2811000-2816000	Enhancers	Brain Substantia Nigra	brain
3	chr4:2811800-2819400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:2813200-2816000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:2813400-2816000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:2813400-2817200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:2813800-2818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:2813800-2819000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:2814200-2817200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:2814200-2817400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:2814800-2816600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr4:2814800-2819000	Weak transcription	Fetal Lung	lung
13	chr4:2814800-2819200	Weak transcription	NH-A	brain
14	chr4:2814800-2819400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:2815000-2816000	Enhancers	Left Ventricle	heart
16	chr4:2815000-2816000	Enhancers	Stomach Mucosa	stomach
17	chr4:2815000-2816200	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr4:2815000-2816400	Flanking Active TSS	GM12878-XiMat	blood
19	chr4:2815200-2816000	Enhancers	Fetal Muscle Trunk	muscle
20	chr4:2815200-2816000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
21	chr4:2815200-2816200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr4:2815200-2816600	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:2815200-2817400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:2815200-2817400	Genic enhancers	Gastric	stomach
25	chr4:2815200-2817400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
26	chr4:2815200-2817600	Genic enhancers	Placenta	Placenta
27	chr4:2815200-2817800	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:2815200-2818800	Weak transcription	Fetal Intestine Large	intestine
29	chr4:2815200-2819000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:2815200-2819200	Weak transcription	Small Intestine	intestine
31	chr4:2815200-2819200	Weak transcription	NHLF	lung
32	chr4:2815400-2816000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:2815400-2816000	Active TSS	Colonic Mucosa	Colon
34	chr4:2815400-2816000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:2815400-2816000	Strong transcription	Pancreas	Pancrea
36	chr4:2815400-2816200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr4:2815400-2816200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:2815400-2816600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
39	chr4:2815400-2817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:2815400-2817000	Genic enhancers	Liver	Liver
41	chr4:2815400-2817200	Strong transcription	Fetal Intestine Small	intestine
42	chr4:2815400-2817400	Enhancers	Fetal Thymus	thymus
43	chr4:2815400-2817600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:2815400-2817600	Genic enhancers	Lung	lung
45	chr4:2815400-2817600	Genic enhancers	Spleen	Spleen
46	chr4:2815400-2817800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:2815400-2818000	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:2815400-2819000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:2815400-2819200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:2815400-2819200	Weak transcription	Rectal Smooth Muscle	rectum

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