Variant report

Variant	rs3008642
Chromosome Location	chr1:222742434-222742435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222739220..222742946-chr1:222744858..222747647,3	K562	blood:
2	chr1:222735227..222738969-chr1:222739039..222743402,4	K562	blood:
3	chr1:222740584..222742691-chr1:222788730..222791557,2	K562	blood:
4	chr1:222740610..222743248-chr1:222753754..222755473,2	K562	blood:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10495193	0.80[ASN][1000 genomes]
rs10495195	0.82[EUR][1000 genomes]
rs11487854	0.96[ASN][1000 genomes]
rs17464254	0.82[EUR][1000 genomes]
rs17464836	0.85[EUR][1000 genomes]
rs2936032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34093838	0.83[EUR][1000 genomes]
rs34853495	0.83[EUR][1000 genomes]
rs66463396	0.82[EUR][1000 genomes]
rs67870673	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67991082	0.82[EUR][1000 genomes]
rs72738208	0.81[EUR][1000 genomes]
rs74148132	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
2	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
5	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
10	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
11	chr1:222728000-222744400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
13	chr1:222728600-222744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:222728800-222746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:222729800-222758800	Weak transcription	Pancreas	Pancrea
17	chr1:222730400-222742800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:222730800-222760200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:222730800-222761200	Weak transcription	Fetal Brain Male	brain
20	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
21	chr1:222731600-222745200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:222731600-222748600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:222731600-222756200	Weak transcription	Esophagus	oesophagus
24	chr1:222731600-222758800	Weak transcription	Gastric	stomach
25	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:222731800-222743200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:222733200-222745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:222733800-222761800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:222733800-222762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
32	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:222734800-222750200	Weak transcription	HUVEC	blood vessel
34	chr1:222734800-222762200	Weak transcription	Colonic Mucosa	Colon
35	chr1:222735000-222743400	Weak transcription	NHEK	skin
36	chr1:222737200-222743000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:222738200-222753400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:222738400-222744000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:222738400-222744400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:222738400-222745400	Strong transcription	Primary B cells from cord blood	blood
41	chr1:222738400-222747600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr1:222739000-222743600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:222739000-222761600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:222739200-222753200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:222739400-222744000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:222739400-222744400	Strong transcription	GM12878-XiMat	blood
47	chr1:222739400-222746200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:222739400-222748600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:222739600-222743000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:222739600-222743400	Strong transcription	Fetal Intestine Large	intestine

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