Variant report

Variant	rs28504591
Chromosome Location	chr1:165691768-165691769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165690144..165692125-chr1:165737724..165739778,2	K562	blood:
2	chr1:165689904..165692304-chr1:165795687..165797207,2	K562	blood:
3	chr1:165691531..165693495-chr1:165795621..165797538,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10800153	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10800154	0.85[AMR][1000 genomes]
rs10800155	0.80[EUR][1000 genomes]
rs12133745	0.87[AMR][1000 genomes]
rs2790052	0.80[EUR][1000 genomes]
rs2790053	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2814471	0.80[EUR][1000 genomes]
rs4537525	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4603103	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4657471	0.83[AMR][1000 genomes]
rs4657476	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4657477	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6660601	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6662839	0.80[EUR][1000 genomes]
rs6668108	0.85[AMR][1000 genomes]
rs6696454	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7518099	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7524755	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7555523	0.83[AMR][1000 genomes];0.80[EUR][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165695400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:165687000-165695200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165687600-165694400	Weak transcription	Liver	Liver
7	chr1:165687600-165694400	Weak transcription	Placenta	Placenta
8	chr1:165687600-165694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:165687600-165694800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:165687600-165694800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:165687600-165694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:165687600-165695000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:165687600-165695200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:165687600-165695200	Weak transcription	NHDF-Ad	bronchial
15	chr1:165687600-165695400	Weak transcription	Osteobl	bone
16	chr1:165687600-165695600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:165687600-165695600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:165687600-165695600	Weak transcription	Fetal Thymus	thymus
19	chr1:165687600-165695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:165687600-165696200	Weak transcription	NHLF	lung
21	chr1:165687600-165696800	Weak transcription	GM12878-XiMat	blood
22	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
23	chr1:165687600-165706000	Weak transcription	HepG2	liver
24	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
26	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:165687800-165695200	Weak transcription	Dnd41	blood
28	chr1:165687800-165695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:165687800-165695800	Weak transcription	K562	blood
30	chr1:165687800-165696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:165687800-165707000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:165687800-165709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:165688000-165695000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:165688400-165695200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:165688800-165695400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:165688800-165695600	Weak transcription	HSMMtube	muscle
37	chr1:165689000-165695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:165689200-165696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:165689200-165696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:165690200-165710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:165691000-165694600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:165691000-165710000	Weak transcription	Fetal Kidney	kidney
43	chr1:165691200-165695600	Weak transcription	Primary B cells from cord blood	blood
44	chr1:165691600-165693800	Weak transcription	Rectal Mucosa Donor 31	rectum

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