Variant report

Variant	rs17391816
Chromosome Location	chr1:242054237-242054238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:241788676..241790229-chr1:242053556..242055267,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11584746	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1635505	0.80[EUR][1000 genomes]
rs17319868	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1776167	0.80[EUR][1000 genomes]
rs1776170	0.80[EUR][1000 genomes]
rs4149996	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4149997	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150027	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55765547	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55872627	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56030713	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087599	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56351240	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57205454	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57430398	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58186904	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58403085	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58440677	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58892877	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72757211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518786	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521516	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525418	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525594	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527778	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7527864	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527937	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530305	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538178	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552134	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv523554	chr1:242029101-242096551	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242012400-242060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:242012800-242054600	Weak transcription	HSMM	muscle
3	chr1:242012800-242056000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:242013200-242056400	Weak transcription	NHLF	lung
5	chr1:242013400-242055800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:242018400-242065600	Weak transcription	Fetal Stomach	stomach
7	chr1:242026400-242082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:242030400-242063600	Weak transcription	NHDF-Ad	bronchial
9	chr1:242031000-242054800	Weak transcription	NH-A	brain
10	chr1:242037400-242054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:242037600-242065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:242040200-242055600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:242040400-242057600	Strong transcription	Dnd41	blood
14	chr1:242041200-242055000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:242042000-242054800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:242042000-242054800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:242042600-242056000	Weak transcription	NHEK	skin
18	chr1:242042600-242059600	Weak transcription	HepG2	liver
19	chr1:242042800-242055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:242043600-242058000	Weak transcription	GM12878-XiMat	blood
21	chr1:242043800-242056200	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:242043800-242065400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:242046800-242063400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:242047000-242056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:242047200-242054600	Strong transcription	Fetal Thymus	thymus
26	chr1:242050000-242054400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:242050200-242054400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:242050200-242056000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:242050400-242054600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:242050800-242057400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:242051800-242054600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:242051800-242059000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:242052000-242058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:242052000-242059600	Weak transcription	Hela-S3	cervix
35	chr1:242052000-242062200	Weak transcription	Thymus	Thymus
36	chr1:242052600-242054800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:242052600-242057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:242052800-242054800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:242053000-242061800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:242053600-242061800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:242053800-242055000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:242053800-242069800	Weak transcription	K562	blood
43	chr1:242054000-242054800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:242054000-242054800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:242054000-242054800	Strong transcription	HMEC	breast
46	chr1:242054000-242055600	Strong transcription	A549	lung
47	chr1:242054200-242054600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:242054200-242054600	Enhancers	HUVEC	blood vessel
49	chr1:242054200-242065800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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