Variant report

Variant	rs41326750
Chromosome Location	chr1:165654851-165654852
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165654793-165654954	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165646837..165649486-chr1:165653488..165655191,2	K562	blood:
2	chr1:165639297..165643636-chr1:165650808..165655625,4	K562	blood:
3	chr1:165654373..165656083-chr1:165811609..165814179,2	K562	blood:

Variant related genes	Relation type
ALDH9A1	TF binding region
ENSG00000230175	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10753687	1.00[ASN][1000 genomes]
rs10800127	1.00[JPT][hapmap]
rs10800128	1.00[ASN][1000 genomes]
rs10800129	1.00[ASN][1000 genomes]
rs10800131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10918244	1.00[ASN][1000 genomes]
rs1143659	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11506	1.00[JPT][hapmap]
rs11800476	1.00[JPT][hapmap]
rs11807857	1.00[ASN][1000 genomes]
rs12565874	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1337442	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1337443	1.00[ASN][1000 genomes]
rs1538115	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1913844	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2348734	1.00[ASN][1000 genomes]
rs2882006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3845537	1.00[ASN][1000 genomes]
rs41267568	1.00[ASN][1000 genomes]
rs4233407	1.00[ASN][1000 genomes]
rs4646881	1.00[ASN][1000 genomes]
rs4646886	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4646887	1.00[ASN][1000 genomes]
rs4646888	1.00[ASN][1000 genomes]
rs4646889	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4646891	1.00[ASN][1000 genomes]
rs4656457	1.00[ASN][1000 genomes]
rs7368130	1.00[ASN][1000 genomes]
rs7519162	1.00[ASN][1000 genomes]
rs7546084	1.00[ASN][1000 genomes]
rs7555268	1.00[ASN][1000 genomes]
rs7555787	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 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	chr1:165606200-165659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165629400-165656000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:165638000-165666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:165638600-165665400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:165639200-165659800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:165644800-165658800	Strong transcription	HSMM	muscle
7	chr1:165645000-165655000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:165645000-165660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:165645200-165655200	Strong transcription	Primary B cells from cord blood	blood
10	chr1:165645800-165655000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:165645800-165655400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:165645800-165657400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:165646000-165655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:165647800-165658400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:165649200-165655000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:165650000-165666800	Weak transcription	Colonic Mucosa	Colon
17	chr1:165651600-165659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:165651600-165665400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:165651600-165667200	Weak transcription	Gastric	stomach
20	chr1:165651800-165665200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:165651800-165665200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:165651800-165665400	Weak transcription	Small Intestine	intestine
23	chr1:165652000-165655600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:165652000-165664000	Weak transcription	Fetal Brain Male	brain
25	chr1:165652200-165655400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:165652200-165655400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:165652200-165656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:165652200-165657000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:165652200-165657400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:165652200-165665400	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:165652200-165665800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:165652200-165666000	Weak transcription	Fetal Kidney	kidney
33	chr1:165652200-165666800	Weak transcription	Lung	lung
34	chr1:165652400-165655000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:165652400-165655200	Weak transcription	Left Ventricle	heart
36	chr1:165652400-165655600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:165652400-165655600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:165652400-165655800	Weak transcription	A549	lung
39	chr1:165652400-165656400	Weak transcription	Fetal Brain Female	brain
40	chr1:165652400-165657200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr1:165652400-165657200	Weak transcription	HepG2	liver
42	chr1:165652400-165657400	Weak transcription	HUVEC	blood vessel
43	chr1:165652400-165658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:165652400-165659200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:165652400-165659400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:165652400-165659600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:165652400-165659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:165652400-165659600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:165652400-165659600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:165652400-165659800	Weak transcription	Brain Angular Gyrus	brain

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