Variant report

Variant	rs901996
Chromosome Location	chr11:46384492-46384493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46384490-46384519	K562	blood:	n/a	n/a
2	SIN3AK20	chr11:46384487-46385802	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:46384201-46385078	GM12878	blood:	n/a	n/a
4	MXI1	chr11:46383816-46385877	SK-N-SH	brain:	n/a	chr11:46384795-46384810
5	ESR1	chr11:46384418-46384906	T-47D	breast:	n/a	n/a
6	ELF1	chr11:46384300-46385696	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:46384423-46385394	U87	brain:	n/a	n/a
8	MAX	chr11:46384452-46385646	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:46384473-46384705	Hela-S3	cervix:	n/a	n/a
10	ZNF263	chr11:46384467-46385038	HEK293-T-REx	kidney:	n/a	n/a
11	SMARCB1	chr11:46384451-46385693	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr11:46384376-46385810	IMR90	lung:	n/a	chr11:46384795-46384810
13	POLR2A	chr11:46383558-46384833	HL-60	blood:	n/a	n/a
14	MAX	chr11:46384437-46384986	K562	blood:	n/a	n/a
15	YY1	chr11:46384431-46384960	SK-N-SH_RA	brain:	n/a	chr11:46384574-46384582
16	POLR2A	chr11:46384265-46385939	K562	blood:	n/a	n/a
17	MAZ	chr11:46384370-46385615	IMR90	lung:	n/a	n/a
18	POLR2A	chr11:46382342-46386023	HL-60	blood:	n/a	n/a
19	YY1	chr11:46384459-46384702	K562	blood:	n/a	chr11:46384574-46384582

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46382914..46384504-chr11:46401158..46403727,3	MCF-7	breast:
2	chr11:46384281..46388087-chr11:46397100..46400474,3	MCF-7	breast:
3	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:
4	chr11:46268735..46270897-chr11:46384198..46386748,2	MCF-7	breast:
5	chr11:46142872..46144744-chr11:46382813..46385236,2	MCF-7	breast:
6	chr11:46384431..46387066-chr11:46399318..46401953,3	MCF-7	breast:
7	chr11:46376342..46379240-chr11:46384456..46386929,2	MCF-7	breast:
8	chr11:46383271..46387552-chr11:46403551..46406378,4	MCF-7	breast:

No data

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000264102	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10742780	1.00[EUR][1000 genomes]
rs59649866	1.00[EUR][1000 genomes]
rs7119921	1.00[MEX][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr11:46370000-46395800	Weak transcription	Aorta	Aorta
2	chr11:46374400-46389600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:46374400-46389600	Weak transcription	Fetal Brain Female	brain
4	chr11:46376000-46389600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:46378600-46389400	Weak transcription	HepG2	liver
6	chr11:46381400-46386000	Enhancers	NHDF-Ad	bronchial
7	chr11:46382400-46384600	Enhancers	HUVEC	blood vessel
8	chr11:46382400-46384600	Enhancers	NH-A	brain
9	chr11:46382400-46384800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:46382400-46385000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:46382400-46385000	Enhancers	Stomach Mucosa	stomach
12	chr11:46382400-46385000	Enhancers	Spleen	Spleen
13	chr11:46382400-46385000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:46382400-46385200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr11:46382400-46385200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:46382400-46385400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:46382400-46385600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:46382400-46385600	Enhancers	Liver	Liver
19	chr11:46382400-46385600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:46382400-46386000	Enhancers	HMEC	breast
21	chr11:46382400-46386200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:46382400-46386200	Enhancers	Lung	lung
23	chr11:46382400-46386600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr11:46382600-46384800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:46382600-46384800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:46382600-46384800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:46382600-46385000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:46382600-46385000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:46382600-46385200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:46382600-46385200	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:46382600-46385600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:46382600-46385600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:46382600-46385800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:46382600-46385800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:46382600-46386200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:46382600-46387200	Enhancers	Brain Substantia Nigra	brain
37	chr11:46382800-46385000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr11:46382800-46385200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:46382800-46385400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:46382800-46385400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:46382800-46385600	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr11:46382800-46385600	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr11:46382800-46385600	Enhancers	Pancreas	Pancrea
44	chr11:46382800-46385800	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr11:46383000-46385600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:46383000-46385800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:46383200-46384600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:46383200-46384600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:46383200-46385200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:46383200-46385400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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