Variant report

Variant	rs41267531
Chromosome Location	chr1:246943547-246943548
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246940173..246942753-chr1:246943130..246945283,2	MCF-7	breast:
2	chr1:246934177..246937192-chr1:246941017..246944440,4	K562	blood:
3	chr1:246941558..246944485-chr20:45985608..45987605,2	MCF-7	breast:
4	chr1:246942351..246945041-chr1:246952061..246954954,2	K562	blood:
5	chr1:246929352..246931655-chr1:246940972..246943621,2	K562	blood:
6	chr1:246943277..246944793-chr1:246945937..246947774,2	K562	blood:
7	chr1:246937235..246940255-chr1:246941352..246944349,3	K562	blood:
8	chr1:246940232..246941968-chr1:246942195..246944093,2	K562	blood:
9	chr1:246941244..246944008-chr1:246946969..246949951,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227953	Chromatin interaction
ENSG00000223519	Chromatin interaction
ENSG00000260855	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10924816	0.85[AMR][1000 genomes]
rs10924827	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10924831	0.85[ASN][1000 genomes]
rs11581735	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12023715	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12026095	0.82[AMR][1000 genomes]
rs12042435	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28703972	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3314	0.98[EUR][1000 genomes]
rs56338592	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56975801	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57384976	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58542205	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60107954	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426330	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6671220	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6680122	0.87[ASN][1000 genomes]
rs7414184	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7417422	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv549545	chr1:246936353-246963019	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv2756894	chr1:246939856-246946021	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv2759013	chr1:246939856-246946021	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246888400-246946400	Weak transcription	Small Intestine	intestine
2	chr1:246888600-246945600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:246902800-246952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:246905000-246945800	Weak transcription	Psoas Muscle	Psoas
5	chr1:246920800-246944200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:246921600-246945800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:246922200-246944600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:246923200-246945000	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:246924000-246944200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:246924400-246945800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:246925200-246952200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:246928800-246944800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:246932400-246945800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:246932400-246952000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:246932600-246948000	Strong transcription	Liver	Liver
16	chr1:246932600-246948600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:246932600-246948600	Weak transcription	Esophagus	oesophagus
18	chr1:246932800-246945000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:246932800-246945600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:246932800-246945800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:246932800-246948800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:246932800-246952400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:246932800-246956400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:246933200-246945800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:246934400-246944800	Strong transcription	Fetal Intestine Large	intestine
26	chr1:246934600-246944200	Strong transcription	HSMM	muscle
27	chr1:246937000-246944000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:246938400-246944200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:246938400-246944400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:246938400-246945800	Strong transcription	Fetal Stomach	stomach
31	chr1:246938400-246947200	Strong transcription	Fetal Intestine Small	intestine
32	chr1:246938600-246944600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:246938800-246945000	Strong transcription	Placenta	Placenta
34	chr1:246939000-246944600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:246939000-246944800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:246939000-246945600	Weak transcription	Fetal Heart	heart
37	chr1:246939200-246945000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:246940200-246945800	Weak transcription	GM12878-XiMat	blood
39	chr1:246940200-246947600	Weak transcription	HUVEC	blood vessel
40	chr1:246940200-246948800	Weak transcription	Fetal Brain Male	brain
41	chr1:246940400-246944000	Weak transcription	A549	lung
42	chr1:246940400-246944800	Weak transcription	NHDF-Ad	bronchial
43	chr1:246940400-246945600	Weak transcription	Right Ventricle	heart
44	chr1:246940400-246945800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:246940400-246949000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:246940600-246943600	Weak transcription	NH-A	brain
47	chr1:246940600-246943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:246940600-246944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:246940600-246944600	Weak transcription	Lung	lung
50	chr1:246940600-246944800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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