Variant report

Variant	rs73538714
Chromosome Location	chr11:72940713-72940714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72931397..72935797-chr11:72938459..72941401,4	K562	blood:
2	chr11:72937927..72942237-chr11:72945067..72953097,14	MCF-7	breast:
3	chr11:72551043..72553984-chr11:72939996..72942753,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260401	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11824116	1.00[EUR][1000 genomes]
rs1790078	1.00[EUR][1000 genomes]
rs1790079	1.00[EUR][1000 genomes]
rs1790082	1.00[EUR][1000 genomes]
rs4536255	1.00[EUR][1000 genomes]
rs57741648	1.00[EUR][1000 genomes]
rs7123525	1.00[EUR][1000 genomes]
rs7935982	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053737	chr11:72838564-72956847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv1038032	chr11:72925347-72966442	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv518659	chr11:72934619-72946020	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72930600-72944200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:72934400-72941600	Enhancers	Placenta	Placenta
3	chr11:72934600-72941600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:72936000-72941400	Enhancers	Left Ventricle	heart
5	chr11:72936400-72947200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:72936400-72953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:72936600-72945800	Weak transcription	Psoas Muscle	Psoas
8	chr11:72936800-72941600	Enhancers	Right Ventricle	heart
9	chr11:72937000-72941400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:72938200-72941200	Enhancers	Fetal Heart	heart
11	chr11:72938200-72941800	Enhancers	Fetal Lung	lung
12	chr11:72938400-72940800	Enhancers	Spleen	Spleen
13	chr11:72938600-72941400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:72938600-72941400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:72938600-72941600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:72938800-72947800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:72939000-72943800	Weak transcription	Liver	Liver
18	chr11:72939000-72943800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:72939000-72945200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:72939000-72945400	Weak transcription	Colonic Mucosa	Colon
21	chr11:72939000-72945400	Weak transcription	Gastric	stomach
22	chr11:72939200-72945400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:72939400-72941200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:72939400-72942200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr11:72939600-72941400	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:72939600-72941600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:72939600-72941800	Enhancers	Fetal Muscle Leg	muscle
28	chr11:72939600-72945600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:72939600-72947800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:72939800-72941600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:72939800-72948800	Weak transcription	A549	lung
32	chr11:72940000-72941000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:72940000-72941000	Enhancers	Fetal Kidney	kidney
34	chr11:72940000-72941200	Enhancers	Right Atrium	heart
35	chr11:72940000-72941800	Strong transcription	Esophagus	oesophagus
36	chr11:72940200-72941400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:72940200-72941400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr11:72940200-72941400	Enhancers	Lung	lung
39	chr11:72940200-72945200	Weak transcription	Pancreas	Pancrea
40	chr11:72940200-72947400	Weak transcription	NHEK	skin
41	chr11:72940400-72940800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:72940400-72941000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:72940400-72941200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:72940400-72941200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:72940400-72941600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:72940400-72941600	Enhancers	HSMMtube	muscle
47	chr11:72940400-72945400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:72940400-72945400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:72940400-72947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:72940600-72941000	Genic enhancers	Fetal Intestine Small	intestine

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