Variant report

Variant	rs12140067
Chromosome Location	chr1:113570586-113570587
allele	C/T
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: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11102561	1.00[ASN][1000 genomes]
rs11102586	0.86[EUR][1000 genomes]
rs11102588	1.00[CEU][hapmap]
rs11102592	1.00[CEU][hapmap]
rs12071491	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075099	1.00[MEX][hapmap]
rs12084281	1.00[MEX][hapmap]
rs12117273	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118532	0.86[EUR][1000 genomes]
rs12120738	0.86[EUR][1000 genomes]
rs12123072	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123519	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123601	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12126316	1.00[ASN][1000 genomes]
rs12128658	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12129858	1.00[CEU][hapmap]
rs12133057	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136941	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12137299	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138968	1.00[ASN][1000 genomes]
rs12141018	1.00[ASN][1000 genomes]
rs12141415	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143171	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143341	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216767	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1216769	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1216798	1.00[CEU][hapmap]
rs1216802	1.00[EUR][1000 genomes]
rs1216807	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1216808	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1216812	1.00[EUR][1000 genomes]
rs1216813	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12184272	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184320	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744661	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1310142	0.86[EUR][1000 genomes]
rs1618794	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17031006	0.86[EUR][1000 genomes]
rs1728229	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1728240	1.00[EUR][1000 genomes]
rs1766864	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1766865	1.00[CEU][hapmap]
rs1778017	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1778019	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41306207	1.00[ASN][1000 genomes]
rs4839291	1.00[CEU][hapmap]
rs4839292	1.00[CEU][hapmap]
rs56335344	1.00[ASN][1000 genomes]
rs6665673	1.00[ASN][1000 genomes]
rs6670587	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6695183	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs72982435	1.00[ASN][1000 genomes]
rs72982438	1.00[ASN][1000 genomes]
rs73000320	1.00[ASN][1000 genomes]
rs73000335	1.00[ASN][1000 genomes]
rs7530614	1.00[MEX][hapmap]
rs7531847	1.00[CEU][hapmap]
rs7535389	1.00[ASN][1000 genomes]
rs7541119	1.00[ASN][1000 genomes]
rs7545814	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429503	1.00[ASN][1000 genomes]
rs946215	1.00[CEU][hapmap];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: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	chr1:113569400-113570600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:113569400-113571000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:113569600-113570600	Flanking Active TSS	HepG2	liver
20	chr1:113570000-113571600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:113570200-113570800	Weak transcription	Placenta	Placenta
22	chr1:113570200-113571000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:113570200-113571200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:113570200-113571400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:113570200-113572400	Weak transcription	Fetal Heart	heart
26	chr1:113570200-113573600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:113570200-113575000	Enhancers	Liver	Liver
28	chr1:113570400-113572200	Weak transcription	Left Ventricle	heart
29	chr1:113570400-113572200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:113570400-113573200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:113570400-113579400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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