Variant report

Variant	rs58232717
Chromosome Location	chr2:97583683-97583684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97539206..97540823-chr2:97583681..97585433,2	K562	blood:
2	chr2:97583047..97585116-chr2:97623477..97625548,2	K562	blood:
3	chr2:97534167..97535919-chr2:97583024..97585180,2	K562	blood:
4	chr2:97583077..97584892-chr2:97587941..97590699,2	K562	blood:
5	chr2:97572989..97575814-chr2:97581720..97584534,3	K562	blood:
6	chr2:97583057..97585198-chr2:97588467..97591915,3	K562	blood:
7	chr2:97572989..97575814-chr2:97581255..97584534,3	K562	blood:
8	chr2:97582821..97585259-chr2:97596994..97599468,2	K562	blood:
9	chr2:97583053..97586967-chr2:97591903..97594857,4	MCF-7	breast:
10	chr2:97538577..97540759-chr2:97582330..97584381,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11889101	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11900466	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119655	0.97[ASN][1000 genomes]
rs3903548	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57397886	1.00[ASN][1000 genomes]
rs59660613	0.97[ASN][1000 genomes]
rs60063645	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62152900	0.89[ASN][1000 genomes]
rs62152908	0.97[ASN][1000 genomes]
rs62152910	0.97[ASN][1000 genomes]
rs6708171	0.89[ASN][1000 genomes]
rs6717064	0.97[ASN][1000 genomes]
rs6734326	0.92[ASN][1000 genomes]
rs6734673	0.97[ASN][1000 genomes]
rs6746020	0.92[ASN][1000 genomes]
rs72811653	0.97[ASN][1000 genomes]
rs72811663	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7591775	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 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	chr2:97577200-97589600	Weak transcription	Fetal Heart	heart
2	chr2:97580200-97584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:97580400-97584000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:97582000-97583800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:97582400-97589200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:97582600-97584600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:97582600-97585600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:97582600-97587800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:97582600-97589000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:97582600-97593000	Weak transcription	Right Atrium	heart
11	chr2:97582800-97585400	Weak transcription	Gastric	stomach
12	chr2:97582800-97585600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:97582800-97586800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:97582800-97589200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:97582800-97589400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:97583000-97584600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:97583000-97584600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:97583000-97585200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:97583200-97585600	Weak transcription	Lung	lung
20	chr2:97583400-97583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:97583400-97584800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:97583400-97585600	Weak transcription	Stomach Mucosa	stomach
23	chr2:97583400-97586000	Flanking Active TSS	K562	blood
24	chr2:97583400-97589200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:97583400-97589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:97583600-97583800	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr2:97583600-97584200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:97583600-97584400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:97583600-97584400	Weak transcription	Placenta	Placenta
30	chr2:97583600-97587600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:97583600-97590400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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