Variant report

Variant	rs969007
Chromosome Location	chr1:224348506-224348507
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224348058..224350324-chr1:224351208..224354224,4	K562	blood:
2	chr1:224348304..224349923-chr1:224689007..224690690,2	K562	blood:
3	chr1:224347991..224350852-chr1:224376414..224378139,2	K562	blood:
4	chr1:224311481..224313770-chr1:224348020..224349577,2	K562	blood:
5	chr1:224347894..224350101-chr1:224385502..224388281,2	K562	blood:
6	chr1:224344874..224349477-chr1:224369651..224372388,4	K562	blood:
7	chr1:224347222..224350082-chr1:224351208..224355016,4	K562	blood:
8	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:
9	chr1:224301857..224303494-chr1:224346848..224349418,2	K562	blood:
10	chr1:224339407..224345322-chr1:224346058..224350848,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143753	Chromatin interaction
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10732277	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10799475	1.00[AMR][1000 genomes]
rs10799485	0.84[AFR][1000 genomes]
rs11804144	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1492693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810345	1.00[AMR][1000 genomes]
rs2131307	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4653562	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs6426120	1.00[AMR][1000 genomes]
rs6426140	1.00[AMR][1000 genomes]
rs6426161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673438	1.00[AMR][1000 genomes]
rs6684699	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7531870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534791	0.91[AFR][1000 genomes]
rs908792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908794	1.00[AMR][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1792939	chr1:224336636-224351023	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:224335800-224349600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:224338400-224349200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr1:224339000-224350000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224339200-224363200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:224340800-224349000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:224341000-224349800	Strong transcription	Fetal Intestine Large	intestine
11	chr1:224341600-224349200	Strong transcription	A549	lung
12	chr1:224342800-224348600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:224343000-224350000	Strong transcription	Liver	Liver
14	chr1:224343000-224350200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:224343000-224350200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:224343000-224350200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:224343200-224350000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:224343200-224350000	Strong transcription	Primary B cells from cord blood	blood
19	chr1:224343200-224350000	Strong transcription	HSMM	muscle
20	chr1:224343200-224350200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:224343200-224350200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:224343200-224350200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:224343200-224350600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:224343400-224348800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:224343400-224348800	Strong transcription	Dnd41	blood
26	chr1:224343400-224349200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:224343400-224350000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:224343400-224350200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:224343400-224350200	Strong transcription	Adipose Nuclei	Adipose
30	chr1:224343400-224350200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:224343400-224350200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:224343600-224350200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:224343800-224348600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:224344000-224350000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:224344600-224350200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:224344800-224348600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr1:224345000-224348800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:224345000-224350000	Strong transcription	HUVEC	blood vessel
39	chr1:224345200-224348800	Strong transcription	Colonic Mucosa	Colon
40	chr1:224345200-224349000	Strong transcription	Osteobl	bone
41	chr1:224345200-224350000	Strong transcription	Brain Anterior Caudate	brain
42	chr1:224345400-224351400	Weak transcription	Fetal Intestine Small	intestine
43	chr1:224345400-224352200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:224345400-224363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:224345600-224349600	Weak transcription	Fetal Brain Male	brain
46	chr1:224345600-224351400	Weak transcription	Gastric	stomach
47	chr1:224345600-224352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:224345600-224363400	Weak transcription	Ovary	ovary
49	chr1:224345800-224356600	Weak transcription	Small Intestine	intestine
50	chr1:224346000-224351400	Weak transcription	Fetal Heart	heart

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