Variant report

Variant	rs10736808
Chromosome Location	chr11:76151520-76151521
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	RCOR1	chr11:76151106-76151522	K562	blood:	n/a	n/a
2	POLR2A	chr11:76151259-76151587	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:76151488-76151521	MCF-7	breast:	n/a	n/a
4	TEAD4	chr11:76151227-76151650	K562	blood:	n/a	n/a
5	POLR2A	chr11:76150681-76152491	K562	blood:	n/a	n/a
6	POLR2A	chr11:76151313-76151626	MCF10A-Er-Src	breast:	n/a	n/a
7	TAL1	chr11:76151337-76151599	K562	blood:	n/a	n/a
8	POLR2A	chr11:76150682-76152155	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:76150873-76151843	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:76151195-76151599	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76079133..76082087-chr11:76150149..76152952,2	K562	blood:

Variant related genes	Relation type
C11orf30	TF binding region
ENSG00000137492	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10736806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10793162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10793168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899214	0.92[ASN][1000 genomes]
rs3753052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3758714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3758717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4531498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944109	1.00[AMR][1000 genomes]
rs4945089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7114796	0.83[ASN][1000 genomes]
rs7125744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7925129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938584	1.00[EUR][1000 genomes]
rs7945460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760197	chr11:76143019-76153868	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76144000-76154000	Weak transcription	Left Ventricle	heart
2	chr11:76145600-76153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:76146000-76152400	Weak transcription	Fetal Intestine Small	intestine
4	chr11:76147600-76154400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:76148000-76154400	Weak transcription	HSMM	muscle
6	chr11:76148200-76154600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:76148600-76152800	Weak transcription	Fetal Heart	heart
8	chr11:76148600-76154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:76148600-76154200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:76148600-76154400	Weak transcription	Right Ventricle	heart
11	chr11:76149200-76154400	Weak transcription	Spleen	Spleen
12	chr11:76149600-76152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:76149600-76153600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:76149600-76153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:76149600-76154000	Weak transcription	Fetal Thymus	thymus
16	chr11:76150000-76154200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:76150000-76154400	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:76150200-76152600	Weak transcription	NHEK	skin
19	chr11:76150400-76153200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:76150600-76152600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:76150800-76153400	Weak transcription	HepG2	liver
22	chr11:76150800-76153800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:76150800-76153800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:76150800-76154400	Weak transcription	Fetal Kidney	kidney
25	chr11:76151000-76151600	Enhancers	K562	blood
26	chr11:76151000-76152600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:76151000-76154000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:76151000-76154200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:76151000-76154400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:76151200-76152000	Enhancers	Psoas Muscle	Psoas
31	chr11:76151200-76152800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:76151200-76154200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:76151200-76154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:76151200-76154200	Weak transcription	Brain Angular Gyrus	brain
35	chr11:76151200-76154200	Weak transcription	HUVEC	blood vessel
36	chr11:76151400-76153400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:76151400-76154200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:76151400-76154400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:76151400-76154400	Weak transcription	Primary B cells from cord blood	blood

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