Variant report

Variant	rs4673385
Chromosome Location	chr2:209122199-209122200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:209122036-209122431	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:209122103-209122425	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:209122047-209122251	HepG2	liver:	n/a	n/a
4	SP1	chr2:209121603-209122405	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:209122084-209122430	HepG2	liver:	n/a	n/a
6	HEY1	chr2:209121669-209122310	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:209121994..209124234-chr2:209131369..209133621,2	MCF-7	breast:
2	chr2:209119923..209123053-chr2:209129009..209130826,3	MCF-7	breast:
3	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
4	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:

No data

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000115020	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

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]
rs12185547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478198	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]
rs13006293	0.80[AFR][1000 genomes]
rs1370370	1.00[EUR][1000 genomes]
rs1437414	1.00[EUR][1000 genomes]
rs1446320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446321	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838796	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[EUR][1000 genomes]
rs2043720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044457	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[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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885786	1.00[EUR][1000 genomes]
rs35940089	1.00[ASN][1000 genomes]
rs4673386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673390	1.00[EUR][1000 genomes]
rs4673395	1.00[EUR][1000 genomes]
rs4675745	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435437	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];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[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[EUR][1000 genomes]
rs6742461	1.00[EUR][1000 genomes]
rs6751982	1.00[EUR][1000 genomes]
rs6754478	1.00[ASN][1000 genomes]
rs7564882	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581075	1.00[EUR][1000 genomes]
rs7605498	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209120400-209122400	Active TSS	HepG2	liver
2	chr2:209120400-209123200	Enhancers	Fetal Heart	heart
3	chr2:209120600-209122400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:209120600-209122600	Enhancers	Brain Angular Gyrus	brain
5	chr2:209120600-209122800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:209120600-209122800	Enhancers	Liver	Liver
7	chr2:209120600-209122800	Enhancers	Fetal Intestine Small	intestine
8	chr2:209120600-209123000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:209120800-209122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:209120800-209122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:209120800-209122600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:209120800-209123000	Enhancers	Fetal Intestine Large	intestine
13	chr2:209120800-209129800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:209121200-209129600	Weak transcription	Left Ventricle	heart
15	chr2:209121400-209122400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:209121400-209122600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:209121600-209122400	Enhancers	Brain Substantia Nigra	brain
18	chr2:209121800-209122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:209121800-209122200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:209121800-209122200	Enhancers	Pancreas	Pancrea
21	chr2:209121800-209122200	Enhancers	K562	blood
22	chr2:209121800-209122400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:209121800-209122800	Enhancers	Fetal Kidney	kidney
24	chr2:209122000-209122200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:209122000-209122200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:209122000-209122200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:209122000-209122200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:209122000-209122200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:209122000-209122200	Enhancers	Aorta	Aorta
30	chr2:209122000-209122200	Enhancers	Colonic Mucosa	Colon
31	chr2:209122000-209122200	Enhancers	Fetal Muscle Leg	muscle
32	chr2:209122000-209122200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:209122000-209122400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:209122000-209122800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:209122000-209122800	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:209122000-209122800	Enhancers	Fetal Lung	lung
37	chr2:209122000-209123000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:209122000-209123200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:209122000-209123200	Enhancers	Rectal Mucosa Donor 31	rectum

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