Variant report

Variant	rs1338290
Chromosome Location	chr1:210465467-210465468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210405884..210407720-chr1:210465372..210467174,2	MCF-7	breast:
2	chr1:210463032..210465736-chr1:210546022..210548079,2	MCF-7	breast:
3	chr1:210463570..210465979-chr1:210545857..210548788,4	MCF-7	breast:
4	chr1:210462820..210467272-chr1:210545539..210548914,4	K562	blood:
5	chr1:210456418..210459693-chr1:210464885..210466635,3	MCF-7	breast:
6	chr1:210405780..210407667-chr1:210464265..210465852,2	MCF-7	breast:
7	chr1:210439102..210441660-chr1:210465161..210467933,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf133-1	chr1:210465245-210465478	NONHSAT009259
2	lnc-C1orf133-1	chr1:210465243-210465478	NONHSAT009258
3	lnc-C1orf133-1	chr1:210465245-210465478	NONHSAT009260
4	lnc-C1orf133-1	chr1:210465242-210465478	l_177_chr1:210465241-210473338_heart

No data

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000228110	Chromatin interaction

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

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

rs_ID	r²[population]
rs12030512	0.99[EUR][1000 genomes]
rs12030856	0.99[EUR][1000 genomes]
rs12034871	0.99[EUR][1000 genomes]
rs12040684	0.99[EUR][1000 genomes]
rs12074229	0.97[EUR][1000 genomes]
rs12138216	0.90[EUR][1000 genomes]
rs4844989	0.86[EUR][1000 genomes]
rs4844996	0.92[EUR][1000 genomes]
rs583148	0.96[EUR][1000 genomes]
rs58366398	0.99[EUR][1000 genomes]
rs587203	0.96[EUR][1000 genomes]
rs588197	0.96[EUR][1000 genomes]
rs590380	0.96[EUR][1000 genomes]
rs60154123	0.89[EUR][1000 genomes]
rs608791	0.96[EUR][1000 genomes]
rs650854	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs652241	0.96[EUR][1000 genomes]
rs652256	0.96[EUR][1000 genomes]
rs689248	0.96[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210464200-210465600	Enhancers	Fetal Stomach	stomach
2	chr1:210464200-210467400	Enhancers	Fetal Lung	lung
3	chr1:210464600-210465600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:210464600-210466000	Enhancers	NHDF-Ad	bronchial
5	chr1:210464600-210466200	Enhancers	Fetal Heart	heart
6	chr1:210464800-210465600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr1:210464800-210465600	Enhancers	Pancreas	Pancrea
8	chr1:210464800-210465600	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:210464800-210465800	Enhancers	NHLF	lung
10	chr1:210465000-210465600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:210465000-210465600	Weak transcription	Fetal Kidney	kidney
12	chr1:210465000-210465800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:210465200-210465600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
14	chr1:210465200-210465600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr1:210465200-210465600	Enhancers	NH-A	brain
16	chr1:210465200-210465800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:210465200-210466000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:210465200-210466200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:210465200-210466400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr1:210465200-210466400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:210465200-210466400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:210465200-210466400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr1:210465200-210466600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:210465200-210467000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:210465400-210465600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:210465400-210465600	Bivalent Enhancer	Primary T cells from cord blood	blood
27	chr1:210465400-210465600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr1:210465400-210465600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:210465400-210465600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr1:210465400-210465600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:210465400-210465600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:210465400-210465600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:210465400-210465600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:210465400-210465600	Enhancers	Brain Hippocampus Middle	brain
35	chr1:210465400-210465600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:210465400-210465600	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr1:210465400-210465600	Bivalent Enhancer	Placenta	Placenta
38	chr1:210465400-210465600	Flanking Active TSS	Ovary	ovary
39	chr1:210465400-210465600	Flanking Active TSS	A549	lung
40	chr1:210465400-210465800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:210465400-210465800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:210465400-210465800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr1:210465400-210465800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr1:210465400-210465800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:210465400-210465800	Active TSS	Fetal Brain Female	brain
46	chr1:210465400-210465800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr1:210465400-210465800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr1:210465400-210465800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr1:210465400-210465800	Enhancers	Stomach Mucosa	stomach
50	chr1:210465400-210465800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links