Variant report

Variant	rs73070950
Chromosome Location	chr2:209107789-209107790
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:209099467-209120161	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:209106594..209109969-chr2:209113559..209115828,3	K562	blood:
2	chr2:209106089..209108636-chr2:209109749..209112220,2	MCF-7	breast:
3	chr2:209105823..209107971-chr2:209113114..209114666,2	MCF-7	breast:

Variant related genes	Relation type
IDH1	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10174541	1.00[ASN][1000 genomes]
rs10186350	1.00[ASN][1000 genomes]
rs10194539	1.00[ASN][1000 genomes]
rs10198535	1.00[ASN][1000 genomes]
rs10202116	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497897	1.00[ASN][1000 genomes]
rs10497898	1.00[ASN][1000 genomes]
rs11554137	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895188	1.00[ASN][1000 genomes]
rs11898653	1.00[ASN][1000 genomes]
rs11901959	1.00[ASN][1000 genomes]
rs13412043	1.00[ASN][1000 genomes]
rs34218846	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59522113	1.00[ASN][1000 genomes]
rs59684347	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435435	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66887797	1.00[ASN][1000 genomes]
rs67171462	1.00[ASN][1000 genomes]
rs67202912	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67581965	1.00[ASN][1000 genomes]
rs67669827	1.00[ASN][1000 genomes]
rs72976889	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72989243	1.00[ASN][1000 genomes]
rs73056463	1.00[ASN][1000 genomes]
rs73070958	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73070962	1.00[ASN][1000 genomes]
rs7557303	1.00[ASN][1000 genomes]
rs7565247	0.94[EUR][1000 genomes]
rs7609093	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9646838	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525747	chr2:209087335-209116753	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr2:209093000-209118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:209098800-209109400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:209098800-209112200	Weak transcription	Colonic Mucosa	Colon
4	chr2:209099400-209110400	Weak transcription	NHLF	lung
5	chr2:209099600-209113000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:209099600-209114600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:209099800-209110000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:209099800-209113600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:209099800-209115000	Strong transcription	Fetal Brain Female	brain
10	chr2:209099800-209117000	Strong transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:209099800-209117200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:209099800-209118000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:209100000-209110600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:209100000-209112400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:209100000-209113400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:209100000-209113600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:209100000-209115000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:209100000-209115000	Strong transcription	A549	lung
19	chr2:209100000-209117000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:209100000-209117000	Strong transcription	Left Ventricle	heart
21	chr2:209100200-209109600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:209100200-209113400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:209100200-209114000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:209100200-209114400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:209100200-209114600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:209100200-209114600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:209100200-209114600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:209100200-209114800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:209100200-209115200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:209100200-209115400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:209100200-209115600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:209100200-209118000	Strong transcription	Fetal Thymus	thymus
33	chr2:209100400-209112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:209100600-209115000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:209100600-209115000	Strong transcription	HMEC	breast
36	chr2:209100600-209117800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:209100800-209111800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:209100800-209115000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:209100800-209115400	Strong transcription	Dnd41	blood
40	chr2:209100800-209116800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:209100800-209117800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:209100800-209117800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:209101000-209109200	Strong transcription	Adipose Nuclei	Adipose
44	chr2:209101000-209116400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:209101000-209118000	Strong transcription	Placenta	Placenta
46	chr2:209101200-209111200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:209101200-209114800	Strong transcription	Primary B cells from cord blood	blood
48	chr2:209101200-209118000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr2:209101200-209118400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:209101400-209111200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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