Variant report

Variant	rs11236214
Chromosome Location	chr11:74394423-74394424
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr11:74394358-74394717	H1-hESC	embryonic stem cell:	n/a	chr11:74394604-74394617 chr11:74394604-74394614 chr11:74394605-74394615 chr11:74394604-74394617 chr11:74394605-74394614 chr11:74394604-74394617 chr11:74394604-74394617
2	CREB1	chr11:74394386-74394799	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:74394361-74394717	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr11:74394373-74394976	H1-hESC	embryonic stem cell:	n/a	chr11:74394521-74394535
5	TAF1	chr11:74394304-74394783	H1-hESC	embryonic stem cell:	n/a	n/a
6	GATA2	chr11:74394221-74394868	SH-SY5Y	brain:	n/a	n/a
7	CTCF	chr11:74394320-74394470	NHDF-neo	bronchial:	n/a	n/a
8	POLR2A	chr11:74394307-74394613	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:74394012-74394802	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74394411-74394461	NH-A	brain:	n/a
2	chr11:74394411-74394461	HRPEpiC	eye:	n/a
3	chr11:74394411-74394461	ProgFib	skin:	n/a
4	chr11:74394411-74394461	AoSMC	blood vessel:	n/a
5	chr11:74394411-74394461	BJ	skin:	n/a
6	chr11:74394411-74394461	PrEC	prostate:	n/a
7	chr11:74394411-74394461	AG09319	gingival:	n/a
8	chr11:74394411-74394461	NHDF-neo	bronchial:	n/a
9	chr11:74394411-74394461	HL-60	blood:	n/a
10	chr11:74394411-74394461	AG09309	skin:	n/a
11	chr11:74394411-74394461	HEEpiC	esophagus:	n/a
12	chr11:74394411-74394461	GM12878	blood:	n/a
13	chr11:74394411-74394461	GM12892	blood:	n/a
14	chr11:74394411-74394461	MCF-7	breast:	n/a
15	chr11:74394411-74394461	A549	lung:	n/a
16	chr11:74394411-74394461	GM12891	blood:	n/a
17	chr11:74394411-74394461	BE2_C	brain:	n/a
18	chr11:74394411-74394461	HCT-116	colon:	n/a
19	chr11:74394411-74394461	HepG2	liver:	n/a
20	chr11:74394411-74394461	HCPEpiC	choroid plexus:	n/a
21	chr11:74394411-74394461	H1-hESC	embryonic stem cell:	embryo
22	chr11:74394411-74394461	HAEpiC	amniotic membrane:	n/a
23	chr11:74394411-74394461	AG10803	skin:	n/a
24	chr11:74394411-74394461	CMK	blood:	n/a
25	chr11:74394411-74394461	Hepatocyte	liver:	n/a
26	chr11:74394411-74394461	MCF10A-Er-Src	breast:	n/a
27	chr11:74394411-74394461	LNCaP	prostate:	n/a
28	chr11:74394411-74394461	GM19239	blood:	n/a
29	chr11:74394411-74394461	IMR90	lung:	fetal
30	chr11:74394411-74394461	HMEC	breast:	n/a
31	chr11:74394411-74394461	SK-N-MC	brain:	n/a
32	chr11:74394411-74394461	T-47D	breast:	n/a
33	chr11:74394411-74394461	NT2-D1	testis:	n/a
34	chr11:74394411-74394461	U87	brain:	n/a
35	chr11:74394411-74394461	SK-N-SH	brain:	n/a
36	chr11:74394411-74394461	NHBE	bronchial:	n/a
37	chr11:74394411-74394461	SKMC	muscle:	n/a
38	chr11:74394411-74394461	HCF	heart:	n/a
39	chr11:74394411-74394461	AG04449	skin:	fetal
40	chr11:74394411-74394461	HNPCEpiC	eye:	n/a
41	chr11:74394411-74394461	HRCEpiC	kidney:	n/a
42	chr11:74394411-74394461	K562	blood:	n/a
43	chr11:74394411-74394461	GM06990	blood:	n/a
44	chr11:74394411-74394461	PFSK-1	brain:	n/a
45	chr11:74394411-74394461	HCM	heart:	n/a
46	chr11:74394411-74394461	RPTEC	kidney:	n/a
47	chr11:74394411-74394461	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:74394411-74394461	Hela-S3	cervix:	n/a
49	chr11:74394411-74394461	AG04450	lung:	fetal
50	chr11:74394411-74394461	HUVEC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74392571..74394133-chr11:74394228..74395891,2	K562	blood:
2	chr11:74389665..74391851-chr11:74392581..74394726,3	MCF-7	breast:
3	chr11:74393727..74396170-chr11:74407543..74410533,2	MCF-7	breast:

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10899025	0.84[EUR][1000 genomes]
rs11236190	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11236193	0.84[EUR][1000 genomes]
rs11236198	0.84[EUR][1000 genomes]
rs11236201	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11236202	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11236211	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61900646	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7102580	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7117568	0.81[AMR][1000 genomes];0.89[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	chr11:74392800-74394600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:74393000-74394600	Bivalent Enhancer	Fetal Stomach	stomach
6	chr11:74394000-74394800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:74394000-74394800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr11:74394000-74394800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:74394000-74394800	Active TSS	Adipose Nuclei	Adipose
10	chr11:74394000-74394800	Enhancers	Placenta	Placenta
11	chr11:74394000-74395000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:74394000-74395000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr11:74394000-74395200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:74394000-74395200	Enhancers	Fetal Brain Male	brain
15	chr11:74394000-74395200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr11:74394000-74395200	Weak transcription	A549	lung
17	chr11:74394200-74394600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:74394200-74394600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:74394200-74394600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:74394200-74394600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:74394200-74394600	Active TSS	Brain Germinal Matrix	brain
22	chr11:74394200-74394600	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
23	chr11:74394200-74394600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr11:74394200-74394800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:74394200-74394800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:74394200-74394800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:74394200-74394800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:74394200-74394800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:74394200-74394800	Active TSS	Brain Angular Gyrus	brain
30	chr11:74394200-74394800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:74394200-74394800	Active TSS	Right Ventricle	heart
32	chr11:74394200-74394800	Active TSS	HUVEC	blood vessel
33	chr11:74394200-74394800	Active TSS	NHLF	lung
34	chr11:74394200-74395000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:74394200-74395000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:74394200-74395000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:74394200-74395000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:74394200-74395000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:74394200-74395000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:74394200-74395000	Active TSS	Aorta	Aorta
41	chr11:74394200-74395000	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr11:74394200-74395000	Active TSS	Duodenum Mucosa	Duodenum
43	chr11:74394200-74395000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
44	chr11:74394200-74395000	Active TSS	Ovary	ovary
45	chr11:74394200-74395000	Active TSS	Right Atrium	heart
46	chr11:74394200-74395000	Bivalent/Poised TSS	HepG2	liver
47	chr11:74394200-74395200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:74394200-74395200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr11:74394200-74395200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:74394200-74395200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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