Variant report

Variant	rs72968788
Chromosome Location	chr11:93861075-93861076
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	TBP	chr11:93861025-93862814	GM12878	blood:	n/a	n/a
2	E2F4	chr11:93860985-93862565	MCF10A-Er-Src	breast:	n/a	chr11:93862095-93862104 chr11:93861494-93861504 chr11:93862160-93862172 chr11:93862161-93862172 chr11:93862142-93862153
3	SPI1	chr11:93860914-93861102	GM12891	blood:	n/a	n/a
4	SPI1	chr11:93860853-93861249	HL-60	blood:	n/a	n/a
5	SPI1	chr11:93860922-93861134	K562	blood:	n/a	n/a
6	TEAD4	chr11:93860745-93861522	K562	blood:	n/a	n/a
7	MYC	chr11:93861049-93861536	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr11:93860756-93861186	K562	blood:	n/a	n/a
9	POLR2A	chr11:93860863-93866480	IMR90	lung:	n/a	n/a
10	CHD1	chr11:93860363-93866299	IMR90	lung:	n/a	chr11:93861960-93861970
11	MXI1	chr11:93858965-93866117	IMR90	lung:	n/a	chr11:93863307-93863316
12	RCOR1	chr11:93860775-93861157	K562	blood:	n/a	n/a
13	REST	chr11:93861010-93863556	H1-neurons	neurons:	n/a	chr11:93861730-93861738 chr11:93862087-93862100 chr11:93862703-93862716 chr11:93863135-93863155

No.	Distal block	Cell Line	Cell type
1	chr11:93844146..93845919-chr11:93859116..93861491,2	K562	blood:
2	chr11:93844146..93846103-chr11:93859991..93861903,2	K562	blood:
3	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
4	chr11:93724420..93726827-chr11:93860849..93862959,2	MCF-7	breast:

Variant related genes	Relation type
PANX1	TF binding region
ENSG00000168876	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000255995	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11828881	0.96[ASN][1000 genomes]
rs56723829	0.91[ASN][1000 genomes]
rs58049964	0.93[ASN][1000 genomes]
rs58216749	0.97[ASN][1000 genomes]
rs58863592	0.93[ASN][1000 genomes]
rs58965645	0.91[ASN][1000 genomes]
rs59768849	0.93[ASN][1000 genomes]
rs61671722	0.81[ASN][1000 genomes]
rs67060752	0.93[ASN][1000 genomes]
rs7102046	0.93[ASN][1000 genomes]
rs7120920	0.93[ASN][1000 genomes]
rs72968735	0.85[ASN][1000 genomes]
rs72968739	0.94[ASN][1000 genomes]
rs72968751	0.94[ASN][1000 genomes]
rs72968770	0.91[ASN][1000 genomes]
rs72968772	0.94[ASN][1000 genomes]
rs72968780	0.94[ASN][1000 genomes]
rs72968785	0.91[ASN][1000 genomes]
rs72968791	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72970708	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72970709	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72970719	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72970727	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73512252	0.93[ASN][1000 genomes]
rs7925027	0.96[ASN][1000 genomes]

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	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93858400-93861200	Weak transcription	Right Atrium	heart
2	chr11:93860000-93861200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:93860200-93861400	Enhancers	Esophagus	oesophagus
4	chr11:93860400-93861200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:93860400-93861200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr11:93860400-93861200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:93860400-93861200	Enhancers	Fetal Intestine Large	intestine
8	chr11:93860400-93861400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:93860600-93861200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:93860600-93861200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:93860600-93861200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:93860600-93861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:93860600-93861200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:93860600-93861200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:93860600-93861200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr11:93860600-93861200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:93860600-93861200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:93860600-93861200	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:93860600-93861200	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:93860600-93861200	Enhancers	Fetal Muscle Leg	muscle
21	chr11:93860600-93861200	Enhancers	Fetal Stomach	stomach
22	chr11:93860600-93861200	Enhancers	Fetal Thymus	thymus
23	chr11:93860600-93861200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:93860600-93861200	Enhancers	Right Ventricle	heart
25	chr11:93860600-93861200	Enhancers	HUVEC	blood vessel
26	chr11:93860600-93861200	Enhancers	K562	blood
27	chr11:93860600-93861400	Enhancers	Lung	lung
28	chr11:93860600-93861400	Enhancers	Stomach Mucosa	stomach
29	chr11:93860600-93861600	Flanking Active TSS	Dnd41	blood
30	chr11:93860600-93861600	Flanking Active TSS	HMEC	breast
31	chr11:93860800-93861200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:93860800-93861200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:93860800-93861200	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:93860800-93861200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr11:93860800-93861200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:93860800-93861200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:93860800-93861200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr11:93860800-93861200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:93860800-93861200	Enhancers	Adipose Nuclei	Adipose
40	chr11:93860800-93861200	Weak transcription	Aorta	Aorta
41	chr11:93860800-93861200	Enhancers	Brain Substantia Nigra	brain
42	chr11:93860800-93861200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:93860800-93861200	Enhancers	Fetal Heart	heart
44	chr11:93860800-93861200	Enhancers	Gastric	stomach
45	chr11:93860800-93861200	Enhancers	Left Ventricle	heart
46	chr11:93860800-93861200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:93860800-93861200	Flanking Active TSS	GM12878-XiMat	blood
48	chr11:93860800-93861400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr11:93860800-93861400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr11:93860800-93861400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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