Variant report

Variant	rs1216782
Chromosome Location	chr1:113582249-113582250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113491230..113494579-chr1:113582129..113585862,4	K562	blood:
2	chr1:113492748..113494579-chr1:113582129..113585122,2	K562	blood:
3	chr1:113581686..113584309-chr1:113613218..113617556,3	K562	blood:
4	chr1:113422315..113424969-chr1:113580165..113583110,2	K562	blood:

Variant related genes	Relation type
ENSG00000198799	Chromatin interaction
ENSG00000238198	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11102547	1.00[EUR][1000 genomes]
rs11102564	1.00[EUR][1000 genomes]
rs11102570	1.00[EUR][1000 genomes]
rs11102572	1.00[EUR][1000 genomes]
rs11102587	1.00[EUR][1000 genomes]
rs12058371	1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063903	1.00[EUR][1000 genomes]
rs12063907	1.00[EUR][1000 genomes]
rs12066276	1.00[EUR][1000 genomes]
rs12066409	1.00[EUR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068812	1.00[EUR][1000 genomes]
rs12068820	1.00[EUR][1000 genomes]
rs12068935	1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12069981	1.00[EUR][1000 genomes]
rs12075099	1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12079268	1.00[EUR][1000 genomes]
rs12079494	1.00[EUR][1000 genomes]
rs12079508	1.00[EUR][1000 genomes]
rs12079574	1.00[EUR][1000 genomes]
rs12084281	1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs12093541	1.00[EUR][1000 genomes]
rs1216786	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1216787	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17030888	1.00[EUR][1000 genomes]
rs6657174	1.00[EUR][1000 genomes]
rs6676854	1.00[EUR][1000 genomes]
rs6680771	1.00[EUR][1000 genomes]
rs6680949	1.00[EUR][1000 genomes]
rs6699036	1.00[EUR][1000 genomes]
rs72990262	1.00[EUR][1000 genomes]
rs72990279	1.00[EUR][1000 genomes]
rs72990283	1.00[EUR][1000 genomes]
rs72990285	1.00[EUR][1000 genomes]
rs72996345	1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][1000 genomes]
rs7513355	1.00[EUR][1000 genomes]
rs7518119	1.00[EUR][1000 genomes]
rs7530614	1.00[EUR][1000 genomes]
rs7537295	1.00[EUR][1000 genomes]
rs7540515	1.00[EUR][1000 genomes]
rs7545283	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	69 gene(s)	inside rSNPs	diseases
10	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
12	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113555600-113584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:113564800-113583000	Weak transcription	Stomach Mucosa	stomach
3	chr1:113571600-113584000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:113572600-113584600	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:113573800-113584200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:113578000-113584800	Weak transcription	Hela-S3	cervix
7	chr1:113579600-113584000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:113579600-113584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:113579800-113583400	Weak transcription	NHEK	skin
10	chr1:113579800-113583600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:113579800-113584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:113579800-113584400	Weak transcription	Osteobl	bone
13	chr1:113579800-113584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:113579800-113584600	Weak transcription	NHDF-Ad	bronchial
15	chr1:113579800-113584800	Weak transcription	Psoas Muscle	Psoas
16	chr1:113580000-113583000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:113580000-113583200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:113580000-113583600	Weak transcription	GM12878-XiMat	blood
19	chr1:113580000-113583800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:113580000-113584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:113580000-113584400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:113580000-113584400	Weak transcription	Fetal Thymus	thymus
23	chr1:113580200-113582600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:113580200-113582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:113580200-113583000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:113580200-113583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:113580200-113584200	Weak transcription	HMEC	breast
28	chr1:113580200-113589200	Weak transcription	Right Atrium	heart
29	chr1:113580600-113582800	Weak transcription	HepG2	liver
30	chr1:113582000-113582600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:113582000-113582600	Enhancers	K562	blood
32	chr1:113582000-113585000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:113582200-113582600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:113582200-113582600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:113582200-113583600	Enhancers	Fetal Intestine Small	intestine
36	chr1:113582200-113584600	Enhancers	HUVEC	blood vessel

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