Variant report

Variant	rs4635504
Chromosome Location	chr2:7234881-7234882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs16865916	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16865917	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16865920	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16865922	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16865923	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16865924	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs16865927	0.94[ASN][1000 genomes]
rs16865929	0.90[ASN][1000 genomes]
rs16865931	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16865932	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4484010	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4522579	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4610023	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56115537	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56129949	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56168684	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56242290	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57541858	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58036970	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59990412	0.89[ASN][1000 genomes]
rs61329746	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61522366	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62105864	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62105867	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62105868	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62107982	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6718054	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6723966	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6729284	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6729685	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732547	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6732551	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6738592	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6738821	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6742329	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6742546	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6746186	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67483739	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6759972	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6760279	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73149306	0.83[ASN][1000 genomes]
rs73149321	0.85[ASN][1000 genomes]
rs7601791	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7607248	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437276	chr2:7229170-7246387	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv437277	chr2:7229170-7246387	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3459456	chr2:7229849-7235881	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3459455	chr2:7229873-7235699	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3459457	chr2:7229873-7235699	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv15834	chr2:7230036-7235715	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7224600-7237400	Weak transcription	Dnd41	blood
2	chr2:7226400-7235600	Weak transcription	Spleen	Spleen
3	chr2:7226400-7237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:7232000-7237600	Weak transcription	Ovary	ovary
5	chr2:7233600-7235600	Enhancers	Fetal Kidney	kidney
6	chr2:7233800-7236200	Weak transcription	Lung	lung
7	chr2:7233800-7237800	Weak transcription	Gastric	stomach
8	chr2:7234000-7235200	Enhancers	Fetal Muscle Leg	muscle
9	chr2:7234000-7235400	Enhancers	Fetal Intestine Large	intestine
10	chr2:7234200-7235000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:7234200-7235000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:7234200-7235200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr2:7234200-7235200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart
15	chr2:7234600-7235000	Weak transcription	Fetal Lung	lung
16	chr2:7234600-7236800	Weak transcription	NH-A	brain
17	chr2:7234600-7237200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:7234600-7237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:7234800-7235400	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:7234800-7236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:7234800-7237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:7234800-7237600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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