Variant report

Variant	rs1626154
Chromosome Location	chr11:72946204-72946205
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	POLR2A	chr11:72943797-72948459	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:72943717-72948442	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:72945936-72947334	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72941338..72942987-chr11:72945088..72947125,2	K562	blood:
2	chr11:72944490..72946453-chr11:72952891..72955306,2	MCF-7	breast:
3	chr11:72492441..72494706-chr11:72945606..72948103,2	MCF-7	breast:
4	chr11:72944570..72946816-chr11:72949673..72951372,2	K562	blood:

Variant related genes	Relation type
ENSG00000260401	TF binding region
ENSG00000265064	Chromatin interaction
ENSG00000260401	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3814728	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs949140	0.81[GIH][hapmap]
rs949141	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72936400-72947200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:72936400-72953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:72938800-72947800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:72939600-72947800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:72939800-72948800	Weak transcription	A549	lung
6	chr11:72940200-72947400	Weak transcription	NHEK	skin
7	chr11:72940400-72947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:72940600-72953400	Weak transcription	Fetal Intestine Large	intestine
9	chr11:72941000-72951000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:72941000-72953200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:72941200-72947800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:72941200-72949000	Weak transcription	Right Atrium	heart
13	chr11:72941600-72947400	Weak transcription	HSMMtube	muscle
14	chr11:72941600-72953200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:72943800-72952200	Strong transcription	Fetal Intestine Small	intestine
16	chr11:72944000-72946600	Enhancers	Fetal Lung	lung
17	chr11:72944000-72947000	Strong transcription	HMEC	breast
18	chr11:72944000-72948600	Strong transcription	Esophagus	oesophagus
19	chr11:72944000-72951600	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:72944200-72946600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:72944400-72946400	Enhancers	Ovary	ovary
22	chr11:72944400-72946600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:72944400-72947800	Weak transcription	HUVEC	blood vessel
24	chr11:72945000-72946600	Genic enhancers	Right Ventricle	heart
25	chr11:72945200-72947200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:72945200-72947200	Genic enhancers	Spleen	Spleen
27	chr11:72945200-72947800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:72945200-72947800	Weak transcription	HepG2	liver
29	chr11:72945200-72948800	Weak transcription	Fetal Heart	heart
30	chr11:72945200-72953400	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:72945400-72946400	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:72945400-72946600	Strong transcription	Colonic Mucosa	Colon
33	chr11:72945400-72946800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:72945400-72946800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:72945400-72947000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:72945400-72947400	Strong transcription	Placenta	Placenta
37	chr11:72945400-72949000	Weak transcription	Fetal Stomach	stomach
38	chr11:72945600-72946600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:72945600-72946800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:72945600-72947400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:72945800-72946600	Strong transcription	Lung	lung
42	chr11:72945800-72946800	Enhancers	Psoas Muscle	Psoas
43	chr11:72945800-72947200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr11:72946000-72947400	Enhancers	Liver	Liver
45	chr11:72946000-72949000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:72946000-72950800	Weak transcription	Pancreas	Pancrea
47	chr11:72946000-72951000	Weak transcription	Gastric	stomach
48	chr11:72946200-72948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:72946200-72948600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:72946200-72954200	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links