Variant report

Variant	rs12185547
Chromosome Location	chr2:209132118-209132119
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr2:209131807-209132410	K562	blood:	n/a	n/a
2	MXI1	chr2:209129623-209132308	SK-N-SH	brain:	n/a	n/a
3	FOXA1	chr2:209131608-209132174	HepG2	liver:	n/a	n/a
4	TBL1XR1	chr2:209132003-209132203	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209121994..209124234-chr2:209131369..209133621,2	MCF-7	breast:
2	chr2:209104332..209106656-chr2:209130862..209133286,2	MCF-7	breast:
3	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:
4	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
5	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
6	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
7	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:

No data

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000228380	Chromatin interaction
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10171006	1.00[EUR][1000 genomes]
rs10175739	1.00[EUR][1000 genomes]
rs10186531	1.00[EUR][1000 genomes]
rs10197958	1.00[EUR][1000 genomes]
rs10201702	1.00[EUR][1000 genomes]
rs10208004	1.00[EUR][1000 genomes]
rs10210393	1.00[EUR][1000 genomes]
rs10804168	1.00[EUR][1000 genomes]
rs10932256	1.00[EUR][1000 genomes]
rs10932259	1.00[EUR][1000 genomes]
rs11677618	1.00[EUR][1000 genomes]
rs11691208	1.00[EUR][1000 genomes]
rs11695873	1.00[EUR][1000 genomes]
rs12465862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479282	1.00[EUR][1000 genomes]
rs12617521	1.00[EUR][1000 genomes]
rs12618837	1.00[EUR][1000 genomes]
rs12621871	1.00[EUR][1000 genomes]
rs12623816	1.00[EUR][1000 genomes]
rs12694105	1.00[EUR][1000 genomes]
rs12694109	1.00[EUR][1000 genomes]
rs13394932	0.86[AFR][1000 genomes]
rs1370370	1.00[EUR][1000 genomes]
rs1437414	1.00[EUR][1000 genomes]
rs1446320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465803	1.00[EUR][1000 genomes]
rs1465804	1.00[EUR][1000 genomes]
rs1529979	1.00[EUR][1000 genomes]
rs1561240	1.00[EUR][1000 genomes]
rs16840898	1.00[EUR][1000 genomes]
rs16840910	1.00[EUR][1000 genomes]
rs16840936	1.00[EUR][1000 genomes]
rs1838794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866044	1.00[EUR][1000 genomes]
rs1866045	1.00[EUR][1000 genomes]
rs2028146	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044457	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118296	1.00[EUR][1000 genomes]
rs2118297	1.00[EUR][1000 genomes]
rs2304544	1.00[EUR][1000 genomes]
rs2363463	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363468	1.00[EUR][1000 genomes]
rs2363469	1.00[EUR][1000 genomes]
rs2363579	1.00[EUR][1000 genomes]
rs2885785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885786	1.00[EUR][1000 genomes]
rs35940089	1.00[ASN][1000 genomes]
rs4673385	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673388	0.96[AFR][1000 genomes]
rs4673390	1.00[EUR][1000 genomes]
rs4673395	1.00[EUR][1000 genomes]
rs4675745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675747	1.00[EUR][1000 genomes]
rs4675750	1.00[EUR][1000 genomes]
rs4675754	1.00[EUR][1000 genomes]
rs4675755	1.00[EUR][1000 genomes]
rs57553077	1.00[EUR][1000 genomes]
rs57797425	1.00[EUR][1000 genomes]
rs6435436	1.00[EUR][1000 genomes]
rs6435437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435441	1.00[EUR][1000 genomes]
rs6435443	1.00[EUR][1000 genomes]
rs6435444	1.00[EUR][1000 genomes]
rs6435445	1.00[EUR][1000 genomes]
rs6435446	1.00[EUR][1000 genomes]
rs6435450	1.00[EUR][1000 genomes]
rs6705163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708926	1.00[EUR][1000 genomes]
rs6711933	1.00[EUR][1000 genomes]
rs6713477	1.00[EUR][1000 genomes]
rs6718402	1.00[EUR][1000 genomes]
rs6733607	1.00[EUR][1000 genomes]
rs6734963	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6742461	1.00[EUR][1000 genomes]
rs6751982	1.00[EUR][1000 genomes]
rs6754478	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7564882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569723	1.00[EUR][1000 genomes]
rs7574324	1.00[EUR][1000 genomes]
rs7576852	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581075	1.00[EUR][1000 genomes]
rs7605498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893253	1.00[EUR][1000 genomes]
rs893255	1.00[EUR][1000 genomes]
rs893256	1.00[EUR][1000 genomes]
rs9283521	1.00[EUR][1000 genomes]
rs934712	1.00[EUR][1000 genomes]
rs934714	1.00[EUR][1000 genomes]
rs959855	1.00[EUR][1000 genomes]
rs976247	1.00[EUR][1000 genomes]
rs994696	1.00[EUR][1000 genomes]
rs994697	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS 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	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised 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 target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209129800-209132800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr2:209129800-209132800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:209129800-209133000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:209129800-209133000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:209130000-209132200	Active TSS	Aorta	Aorta
6	chr2:209130000-209132200	Active TSS	Right Ventricle	heart
7	chr2:209130000-209132400	Active TSS	Psoas Muscle	Psoas
8	chr2:209130000-209132600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:209130000-209132600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:209130000-209132600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:209130000-209132800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:209130000-209132800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:209130000-209132800	Active TSS	Ovary	ovary
14	chr2:209130200-209132200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:209130200-209132200	Active TSS	Fetal Intestine Small	intestine
16	chr2:209130200-209132200	Active TSS	A549	lung
17	chr2:209130200-209132400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:209130200-209132400	Active TSS	Fetal Intestine Large	intestine
19	chr2:209130200-209132400	Active TSS	Right Atrium	heart
20	chr2:209130200-209132400	Active TSS	Dnd41	blood
21	chr2:209130200-209132600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:209130200-209132600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:209130200-209132600	Active TSS	Colon Smooth Muscle	Colon
24	chr2:209130200-209132800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:209130200-209132800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:209130200-209132800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:209130200-209133400	Active TSS	K562	blood
28	chr2:209130400-209132200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:209130400-209132200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:209130400-209132200	Active TSS	Placenta	Placenta
31	chr2:209130400-209132600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:209130400-209132600	Active TSS	GM12878-XiMat	blood
33	chr2:209130400-209132800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:209130400-209132800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:209130400-209132800	Active TSS	NHLF	lung
36	chr2:209130400-209133200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:209130600-209132200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr2:209130600-209132200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:209130600-209132200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:209130600-209132200	Active TSS	Fetal Thymus	thymus
41	chr2:209130600-209132200	Active TSS	Thymus	Thymus
42	chr2:209130600-209132400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:209130600-209132600	Active TSS	Hela-S3	cervix
44	chr2:209130600-209132600	Active TSS	HMEC	breast
45	chr2:209130600-209132600	Active TSS	NHEK	skin
46	chr2:209130600-209132800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr2:209130600-209132800	Active TSS	HSMM	muscle
48	chr2:209130600-209133000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr2:209130800-209132200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:209130800-209132400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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