Variant report

Variant	rs1216778
Chromosome Location	chr1:113570762-113570763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113564257..113567522-chr1:113568390..113572555,4	K562	blood:
2	chr1:113570114..113572755-chr1:113573147..113575592,2	K562	blood:
3	chr1:113556085..113558248-chr1:113569856..113571725,2	K562	blood:
4	chr1:113564641..113566837-chr1:113568390..113571162,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1216774	0.86[ASN][1000 genomes]
rs1216776	0.86[ASN][1000 genomes]
rs17494145	0.95[EUR][1000 genomes]
rs17494180	0.96[EUR][1000 genomes]
rs4839276	0.87[EUR][1000 genomes]
rs4839277	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55768060	0.91[EUR][1000 genomes]
rs55982206	0.86[EUR][1000 genomes]
rs56019044	0.87[EUR][1000 genomes]
rs6669006	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683459	0.87[EUR][1000 genomes]
rs72683463	0.97[EUR][1000 genomes]
rs72683468	0.99[EUR][1000 genomes];1.00[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1216778	SLC16A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
2	chr1:113543200-113574400	Weak transcription	HSMM	muscle
3	chr1:113553000-113572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:113555600-113572200	Weak transcription	Primary T cells from cord blood	blood
5	chr1:113555600-113584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:113562400-113574000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:113564600-113577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:113564600-113577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:113564800-113579400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:113564800-113583000	Weak transcription	Stomach Mucosa	stomach
11	chr1:113568800-113570800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:113569000-113571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:113569000-113571600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:113569000-113571800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:113569200-113571600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:113569200-113572000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:113569400-113571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:113570000-113571600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:113570200-113570800	Weak transcription	Placenta	Placenta
20	chr1:113570200-113571000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:113570200-113571200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:113570200-113571400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:113570200-113572400	Weak transcription	Fetal Heart	heart
24	chr1:113570200-113573600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:113570200-113575000	Enhancers	Liver	Liver
26	chr1:113570400-113572200	Weak transcription	Left Ventricle	heart
27	chr1:113570400-113572200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:113570400-113573200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:113570400-113579400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:113570600-113572400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:113570600-113575200	Enhancers	HepG2	liver

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