Variant report

Variant	rs747757
Chromosome Location	chr2:97314175-97314176
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97313793..97316048-chr2:97318402..97322451,3	MCF-7	breast:
2	chr2:97311634..97314333-chr2:97317596..97320114,2	K562	blood:
3	chr2:97309017..97310935-chr2:97312704..97314618,2	K562	blood:
4	chr2:97292921..97294497-chr2:97313635..97315225,2	K562	blood:
5	chr2:97306589..97308698-chr2:97313365..97315027,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARID5A-4	chr2:97313984-97316263	ucscGeneNc_uc002sxu_2

No data

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000249715	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10175415	0.84[AFR][1000 genomes]
rs10183164	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10185002	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10199227	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10203766	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10209315	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13384114	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13389475	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13393729	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395011	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13398740	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13405842	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35715176	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55687728	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55716397	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59398186	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59426746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60326991	0.83[ASN][1000 genomes]
rs61063398	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6718340	0.83[ASN][1000 genomes]
rs6732115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6733589	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753713	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72939379	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72941209	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72941214	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72941219	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72941235	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7604736	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607990	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97308800-97315000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:97308800-97316000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:97308800-97322800	Weak transcription	Ovary	ovary
4	chr2:97308800-97329600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:97309000-97316400	Weak transcription	Fetal Stomach	stomach
6	chr2:97309000-97317600	Weak transcription	NHLF	lung
7	chr2:97309000-97317800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:97309000-97317800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:97309000-97321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:97309000-97328200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:97309000-97328600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:97309000-97329800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:97309000-97331000	Weak transcription	Right Atrium	heart
14	chr2:97309000-97332000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:97313600-97314200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:97314000-97314200	ZNF genes & repeats	Thymus	Thymus

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