Variant report

Variant	rs41359248
Chromosome Location	chr1:226030862-226030863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225998663..226000298-chr1:226028489..226031143,2	MCF-7	breast:
2	chr1:226028800..226031173-chr1:226165446..226167469,2	MCF-7	breast:
3	chr1:225964257..225969087-chr1:226030786..226035881,7	K562	blood:
4	chr1:225840519..225842068-chr1:226029667..226032109,2	MCF-7	breast:
5	chr1:226030085..226032295-chr1:226067898..226070113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2234700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35561387	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3753663	0.84[AFR][1000 genomes]
rs45521241	1.00[AMR][1000 genomes]
rs45550332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664983	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv945328	chr1:226015604-226031170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv1801609	chr1:226027323-226036309	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
2	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:226013800-226032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine
7	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
8	chr1:226015400-226032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226015400-226033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:226015600-226033600	Weak transcription	K562	blood
11	chr1:226016000-226051000	Weak transcription	NH-A	brain
12	chr1:226016400-226033400	Strong transcription	Fetal Intestine Small	intestine
13	chr1:226016800-226033600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
15	chr1:226020400-226032000	Weak transcription	Aorta	Aorta
16	chr1:226020400-226033400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:226020600-226042000	Weak transcription	Hela-S3	cervix
18	chr1:226020600-226042400	Weak transcription	HSMM	muscle
19	chr1:226020800-226033400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:226020800-226033800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:226021000-226033400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226022200-226033200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:226022200-226033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:226022800-226033800	Weak transcription	Stomach Mucosa	stomach
25	chr1:226023000-226039600	Weak transcription	NHDF-Ad	bronchial
26	chr1:226023800-226035800	Weak transcription	Fetal Brain Male	brain
27	chr1:226024000-226031200	Strong transcription	Adipose Nuclei	Adipose
28	chr1:226024000-226032800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:226024400-226033200	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:226024600-226032600	Strong transcription	Fetal Stomach	stomach
31	chr1:226024600-226032800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:226024600-226034000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:226025200-226032600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:226025200-226033200	Strong transcription	A549	lung
35	chr1:226025200-226033400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:226025400-226032600	Strong transcription	Fetal Lung	lung
37	chr1:226025800-226034800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:226025800-226036400	Strong transcription	Lung	lung
39	chr1:226025800-226036400	Strong transcription	Osteobl	bone
40	chr1:226026000-226033200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:226026000-226033400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:226026000-226034200	Strong transcription	Ovary	ovary
43	chr1:226026200-226035200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:226027000-226033800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:226027200-226032000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:226027200-226033600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr1:226027800-226032000	Weak transcription	Brain Angular Gyrus	brain
49	chr1:226027800-226033200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:226028000-226031200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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