Variant report

Variant	rs2305030
Chromosome Location	chr15:41805237-41805238
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	SUZ12	chr15:41803702-41806103	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr15:41805173-41806530	K562	blood:	n/a	n/a
3	ZBTB7A	chr15:41804970-41805280	K562	blood:	n/a	n/a
4	NR2F2	chr15:41804973-41805650	K562	blood:	n/a	n/a
5	EBF1	chr15:41805083-41805507	GM12878	blood:	n/a	chr15:41805281-41805292
6	YY1	chr15:41805200-41805523	K562	blood:	n/a	n/a
7	UBTF	chr15:41805206-41806318	K562	blood:	n/a	n/a
8	HMGN3	chr15:41804926-41806286	K562	blood:	n/a	n/a
9	EBF1	chr15:41805097-41805504	GM12878	blood:	n/a	chr15:41805281-41805292
10	BHLHE40	chr15:41804763-41805522	GM12878	blood:	n/a	n/a
11	MAX	chr15:41805215-41806568	K562	blood:	n/a	n/a
12	TCF12	chr15:41805194-41805538	GM12878	blood:	n/a	n/a
13	RUNX3	chr15:41805113-41805585	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr15:41805204-41805567	K562	blood:	n/a	n/a
15	MAX	chr15:41805059-41806606	NB4	blood:	n/a	n/a
16	EP300	chr15:41805235-41805521	GM12878	blood:	n/a	chr15:41805486-41805502 chr15:41805362-41805376
17	EBF1	chr15:41805129-41805463	GM12878	blood:	n/a	chr15:41805281-41805292
18	RUNX3	chr15:41805152-41805615	GM12878	blood:	n/a	n/a
19	MYC	chr15:41805100-41806613	NB4	blood:	n/a	n/a
20	GABPA	chr15:41805086-41805514	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr15:41805091-41805506	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41801767..41805579-chr15:41951979..41954300,3	K562	blood:
2	chr15:41803642..41805353-chr15:41818402..41820685,2	K562	blood:

Variant related genes	Relation type
LTK	TF binding region
ENSG00000103932	Chromatin interaction
ENSG00000174197	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11858969	0.93[CHD][hapmap]
rs12593440	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2289741	0.93[CHD][hapmap]
rs2305031	0.84[ASW][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap]
rs28505024	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759794	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56786077	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7180038	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8026193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv33378	chr15:41786505-41805760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41801800-41819000	Weak transcription	Hela-S3	cervix
2	chr15:41803200-41806400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr15:41803200-41806400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:41803400-41806200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:41803400-41806400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr15:41803600-41805400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
7	chr15:41803600-41805400	Bivalent Enhancer	Fetal Heart	heart
8	chr15:41803600-41805600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr15:41803600-41806000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr15:41803600-41806200	Bivalent Enhancer	Fetal Brain Male	brain
11	chr15:41803600-41806200	Enhancers	Pancreas	Pancrea
12	chr15:41803600-41806200	Bivalent Enhancer	HMEC	breast
13	chr15:41803600-41806400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:41803800-41806200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:41803800-41806400	Bivalent Enhancer	Fetal Thymus	thymus
16	chr15:41804000-41805600	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr15:41804000-41806200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
18	chr15:41804000-41806200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr15:41804000-41806400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:41804000-41806400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:41804000-41806400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr15:41804200-41805400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:41804200-41805800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
24	chr15:41804200-41805800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
25	chr15:41804200-41806000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:41804200-41806200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr15:41804200-41806200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr15:41804200-41806200	Flanking Active TSS	Ovary	ovary
29	chr15:41804200-41806200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr15:41804200-41806400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
31	chr15:41804200-41806400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
32	chr15:41804200-41806400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr15:41804200-41806400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:41804200-41806400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr15:41804200-41806400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr15:41804400-41805400	Bivalent Enhancer	Fetal Lung	lung
37	chr15:41804400-41805400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
38	chr15:41804400-41805400	Flanking Bivalent TSS/Enh	NHEK	skin
39	chr15:41804400-41805600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
40	chr15:41804400-41805600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr15:41804400-41805800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
42	chr15:41804400-41806000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:41804400-41806000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
44	chr15:41804400-41806200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:41804400-41806200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr15:41804400-41806400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:41804400-41806400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr15:41804400-41806400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr15:41804400-41806400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr15:41804400-41806400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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