Variant report

Variant	rs7102580
Chromosome Location	chr11:74394865-74394866
allele	A/G
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	CTCF	chr11:74394760-74394910	HPF	lung:	n/a	n/a
2	CTCF	chr11:74394720-74394870	GM12864	blood:	n/a	chr11:74394744-74394753
3	CTCF	chr11:74394720-74394870	HBMEC	blood vessel:	n/a	chr11:74394744-74394753
4	CTCF	chr11:74394740-74394890	HBMEC	blood vessel:	n/a	chr11:74394744-74394753
5	CTCF	chr11:74394820-74394970	NHEK	skin:	n/a	n/a
6	RAD21	chr11:74394373-74394976	H1-hESC	embryonic stem cell:	n/a	chr11:74394521-74394535
7	CTCF	chr11:74394720-74394870	HCFaa	heart:	n/a	chr11:74394744-74394753
8	CTCF	chr11:74394800-74394950	HFF	foreskin:	n/a	n/a
9	CTCF	chr11:74394720-74394870	HCPEpiC	choroid plexus:	n/a	chr11:74394744-74394753
10	CTCF	chr11:74394720-74394870	AoAF	blood vessel:	n/a	chr11:74394744-74394753
11	GATA2	chr11:74394221-74394868	SH-SY5Y	brain:	n/a	n/a
12	CTCF	chr11:74394780-74394930	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr11:74394800-74394950	AG04450	lung:	n/a	n/a
14	CTCF	chr11:74394720-74394870	HA-sp	spinal cord:	n/a	chr11:74394744-74394753
15	CTCF	chr11:74394720-74394870	HRPEpiC	eye:	n/a	chr11:74394744-74394753
16	CTCF	chr11:74394740-74394890	HRPEpiC	eye:	n/a	chr11:74394744-74394753
17	CTCF	chr11:74394720-74394870	HRE	kidney:	n/a	chr11:74394744-74394753
18	CTCF	chr11:74394720-74394870	GM12873	blood:	n/a	chr11:74394744-74394753
19	CTCF	chr11:74394800-74394950	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:74394780-74394930	HMEC	breast:	n/a	n/a
21	CTCF	chr11:74394720-74394870	HUVEC	blood vessel:	n/a	chr11:74394744-74394753
22	CTCF	chr11:74394720-74394870	HepG2	liver:	n/a	chr11:74394744-74394753
23	CTCF	chr11:74394720-74394870	GM12871	blood:	n/a	chr11:74394744-74394753
24	CTCF	chr11:74394720-74394870	BJ	skin:	n/a	chr11:74394744-74394753
25	CTCF	chr11:74394720-74394870	GM12865	blood:	n/a	chr11:74394744-74394753
26	RAD21	chr11:74394476-74394879	SK-N-SH_RA	brain:	n/a	chr11:74394521-74394535
27	CTCF	chr11:74394575-74394902	HepG2	liver:	n/a	chr11:74394744-74394753
28	CTCF	chr11:74394720-74394870	AG10803	skin:	n/a	chr11:74394744-74394753

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74392571..74394133-chr11:74394228..74395891,2	K562	blood:
2	chr11:74393727..74396170-chr11:74407543..74410533,2	MCF-7	breast:

Variant related genes	Relation type
RN7SKP297	TF binding region
ENSG00000185162	Chromatin interaction
ENSG00000054938	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10899025	0.81[EUR][1000 genomes]
rs11236190	0.81[EUR][1000 genomes]
rs11236193	0.81[EUR][1000 genomes]
rs11236198	0.81[EUR][1000 genomes]
rs11236201	0.82[EUR][1000 genomes]
rs11236211	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11236214	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61900646	0.87[EUR][1000 genomes]
rs7117568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74390000-74395400	Weak transcription	HSMM	muscle
2	chr11:74390400-74397800	Weak transcription	K562	blood
3	chr11:74392200-74395200	Enhancers	Fetal Heart	heart
4	chr11:74394000-74395000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:74394000-74395000	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr11:74394000-74395200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:74394000-74395200	Enhancers	Fetal Brain Male	brain
8	chr11:74394000-74395200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:74394000-74395200	Weak transcription	A549	lung
10	chr11:74394200-74395000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:74394200-74395000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:74394200-74395000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:74394200-74395000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:74394200-74395000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:74394200-74395000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:74394200-74395000	Active TSS	Aorta	Aorta
17	chr11:74394200-74395000	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr11:74394200-74395000	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:74394200-74395000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr11:74394200-74395000	Active TSS	Ovary	ovary
21	chr11:74394200-74395000	Active TSS	Right Atrium	heart
22	chr11:74394200-74395000	Bivalent/Poised TSS	HepG2	liver
23	chr11:74394200-74395200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:74394200-74395200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:74394200-74395200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:74394200-74395200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:74394200-74395200	Active TSS	Lung	lung
28	chr11:74394400-74395000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr11:74394400-74395000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:74394400-74395000	Active TSS	Colon Smooth Muscle	Colon
31	chr11:74394400-74395000	Active TSS	Fetal Brain Female	brain
32	chr11:74394400-74395000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:74394400-74395000	Active TSS	Psoas Muscle	Psoas
34	chr11:74394400-74395000	Bivalent/Poised TSS	NHEK	skin
35	chr11:74394400-74395800	Enhancers	Spleen	Spleen
36	chr11:74394600-74395000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:74394600-74395000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr11:74394600-74395000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr11:74394600-74395000	Active TSS	Left Ventricle	heart
40	chr11:74394600-74395000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
41	chr11:74394600-74395200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:74394600-74395400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:74394800-74395000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:74394800-74395000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr11:74394800-74395000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:74394800-74395000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:74394800-74395000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:74394800-74395000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr11:74394800-74395000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr11:74394800-74395000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

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