Variant report

Variant	rs61745438
Chromosome Location	chr2:97359422-97359423
allele	G/T
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	ZNF263	chr2:97359253-97359487	HEK293-T-REx	kidney:	n/a	chr2:97359329-97359350

No.	Distal block	Cell Line	Cell type
1	chr2:97350855..97354429-chr2:97356472..97360130,5	K562	blood:
2	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
3	chr2:97357024..97359553-chr2:97360079..97361735,2	K562	blood:

Variant related genes	Relation type
FER1L5	TF binding region
ENSG00000158158	Chromatin interaction
ENSG00000249715	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17119606	1.00[AMR][1000 genomes]
rs41530648	1.00[AMR][1000 genomes]
rs55806522	1.00[AMR][1000 genomes]
rs56984105	1.00[AMR][1000 genomes]
rs57454641	1.00[AMR][1000 genomes]
rs57993098	1.00[AMR][1000 genomes]
rs58219990	1.00[AMR][1000 genomes]
rs59057644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59657357	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60242125	1.00[AMR][1000 genomes]
rs72941255	1.00[AMR][1000 genomes]
rs73960687	1.00[AMR][1000 genomes]
rs7593245	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97346200-97368000	Weak transcription	Aorta	Aorta
2	chr2:97350400-97367600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:97351000-97359800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:97351800-97368400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:97351800-97372800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:97351800-97373600	Weak transcription	Fetal Brain Male	brain
7	chr2:97352000-97359600	Weak transcription	Lung	lung
8	chr2:97352000-97360200	Weak transcription	Fetal Lung	lung
9	chr2:97352000-97360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:97352000-97360800	Weak transcription	Right Atrium	heart
11	chr2:97352000-97363000	Weak transcription	Esophagus	oesophagus
12	chr2:97352000-97368000	Weak transcription	Ovary	ovary
13	chr2:97352000-97368200	Weak transcription	Gastric	stomach
14	chr2:97352200-97367800	Weak transcription	Right Ventricle	heart
15	chr2:97352400-97360000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:97352400-97360600	Weak transcription	Fetal Stomach	stomach
17	chr2:97352400-97362800	Weak transcription	Fetal Intestine Large	intestine
18	chr2:97353800-97364400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:97353800-97371200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:97354400-97360000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:97355600-97361200	Enhancers	Placenta	Placenta
22	chr2:97355800-97368400	Weak transcription	NHLF	lung
23	chr2:97356600-97365600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:97356800-97368200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:97357400-97360400	Enhancers	Fetal Muscle Leg	muscle
26	chr2:97357400-97361000	Weak transcription	Spleen	Spleen
27	chr2:97357600-97366800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:97358000-97361200	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:97358400-97375400	Weak transcription	Fetal Heart	heart
30	chr2:97358600-97359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:97358600-97367800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:97358600-97369600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:97359200-97359800	Bivalent Enhancer	HepG2	liver
34	chr2:97359200-97361000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:97359200-97368000	Weak transcription	Thymus	Thymus
36	chr2:97359400-97360600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:97359400-97361200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:97359400-97365800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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