Variant report

Variant	rs1891243
Chromosome Location	chr1:224687445-224687446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224622043..224623637-chr1:224687364..224688891,2	MCF-7	breast:
2	chr1:224683423..224687942-chr1:224688283..224691740,8	K562	blood:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10916626	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12030141	0.83[EUR][1000 genomes]
rs12140117	0.81[ASN][1000 genomes]
rs12141016	0.81[ASN][1000 genomes]
rs12566578	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2405027	0.83[EUR][1000 genomes]
rs35143345	0.83[EUR][1000 genomes]
rs4294381	0.84[CHB][hapmap]
rs4653589	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4654041	0.81[EUR][1000 genomes]
rs6426133	0.81[ASN][1000 genomes]
rs6665956	0.84[CHB][hapmap]
rs712065	0.83[CHB][hapmap]
rs712066	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7532359	0.83[EUR][1000 genomes]
rs7539200	0.80[EUR][1000 genomes]
rs7543628	0.80[EUR][1000 genomes]
rs791504	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS 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 miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224679800-224689600	Weak transcription	Pancreas	Pancrea
2	chr1:224682800-224690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:224685200-224687800	Enhancers	Brain Anterior Caudate	brain
4	chr1:224685200-224688600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:224685600-224689600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:224686000-224689600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:224686000-224690000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:224686200-224689000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:224686400-224689600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:224686600-224688400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:224686600-224688400	Enhancers	Dnd41	blood
13	chr1:224686600-224688800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:224686600-224688800	Enhancers	NHLF	lung
15	chr1:224686600-224689600	Weak transcription	Esophagus	oesophagus
16	chr1:224686600-224689800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:224686600-224689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:224686600-224689800	Weak transcription	Fetal Lung	lung
19	chr1:224686600-224689800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:224686600-224690000	Weak transcription	Aorta	Aorta
21	chr1:224686600-224690000	Weak transcription	Liver	Liver
22	chr1:224686600-224690200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:224686600-224690200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:224686600-224691000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:224686600-224691000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:224686600-224691200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:224686600-224691200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:224686800-224687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:224686800-224687600	Enhancers	HUVEC	blood vessel
30	chr1:224686800-224687600	Enhancers	NH-A	brain
31	chr1:224686800-224687800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:224686800-224687800	Weak transcription	Fetal Thymus	thymus
33	chr1:224686800-224688200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:224686800-224688200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:224686800-224688200	Weak transcription	Thymus	Thymus
36	chr1:224686800-224688400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:224686800-224688400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:224686800-224688400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:224686800-224689000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:224686800-224689000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:224686800-224689400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:224686800-224689600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:224686800-224689600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:224686800-224689600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:224686800-224689600	Weak transcription	Colonic Mucosa	Colon
46	chr1:224686800-224689600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:224686800-224689600	Weak transcription	Gastric	stomach
48	chr1:224686800-224689600	Weak transcription	Left Ventricle	heart
49	chr1:224686800-224689600	Weak transcription	Lung	lung
50	chr1:224686800-224689600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links