Variant report

Variant	rs11102702
Chromosome Location	chr1:114450964-114450965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114373171..114375112-chr1:114450581..114453356,2	K562	blood:
2	chr1:114352137..114357235-chr1:114445065..114452395,18	MCF-7	breast:
3	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
4	chr1:114449032..114451471-chr13:20531152..20533665,2	MCF-7	breast:
5	chr1:114449671..114451992-chr1:114516698..114518911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163349	Chromatin interaction
ENSG00000121741	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102694	0.90[AMR][1000 genomes]
rs11102701	0.84[EUR][1000 genomes]
rs11552449	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12046289	0.90[AMR][1000 genomes]
rs2358994	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358995	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3761936	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513707	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114448600-114451000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114448600-114452800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:114448600-114452800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:114448600-114453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:114448600-114453200	Weak transcription	Gastric	stomach
6	chr1:114448600-114453600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114448600-114453600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:114448600-114453800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:114448600-114453800	Weak transcription	Aorta	Aorta
10	chr1:114448600-114453800	Weak transcription	Pancreas	Pancrea
11	chr1:114448600-114453800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:114448600-114454200	Weak transcription	Small Intestine	intestine
13	chr1:114448600-114455000	Weak transcription	Fetal Heart	heart
14	chr1:114448600-114455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:114448600-114455200	Weak transcription	Psoas Muscle	Psoas
16	chr1:114448600-114455400	Weak transcription	Right Ventricle	heart
17	chr1:114448600-114456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:114448600-114456600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:114448600-114461400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:114448800-114451200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:114448800-114451400	Weak transcription	NHDF-Ad	bronchial
22	chr1:114448800-114453400	Weak transcription	Primary B cells from cord blood	blood
23	chr1:114448800-114453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:114448800-114454400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:114448800-114456000	Weak transcription	Fetal Kidney	kidney
26	chr1:114449000-114451200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:114449000-114453800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:114449000-114453800	Weak transcription	Colonic Mucosa	Colon
29	chr1:114449000-114455400	Weak transcription	Right Atrium	heart
30	chr1:114449200-114451400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:114449200-114452800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:114449200-114453200	Weak transcription	NH-A	brain
33	chr1:114449200-114461800	Weak transcription	Fetal Brain Male	brain
34	chr1:114449400-114451600	Strong transcription	Fetal Stomach	stomach
35	chr1:114449400-114455800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:114449400-114456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:114449600-114451800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:114449600-114453000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:114449600-114453600	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:114449600-114453800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:114449600-114454600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr1:114449600-114455600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:114449600-114456800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:114449600-114458000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:114449800-114451400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:114449800-114451600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:114449800-114451600	Strong transcription	Fetal Intestine Small	intestine
48	chr1:114449800-114451600	Genic enhancers	K562	blood
49	chr1:114449800-114451800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:114449800-114451800	Genic enhancers	Dnd41	blood

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