Variant report

Variant	rs60435696
Chromosome Location	chr15:43424365-43424366
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43412581..43417001-chr15:43422670..43429913,10	K562	blood:
2	chr15:43411554..43416767-chr15:43424269..43426823,6	K562	blood:

Variant related genes	Relation type
ENSG00000137842	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10048057	1.00[EUR][1000 genomes]
rs10083725	1.00[EUR][1000 genomes]
rs10152237	1.00[EUR][1000 genomes]
rs10220812	1.00[EUR][1000 genomes]
rs1042168	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10438267	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1078243	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11504655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324094	1.00[EUR][1000 genomes]
rs12324436	1.00[EUR][1000 genomes]
rs12324573	1.00[EUR][1000 genomes]
rs1474199	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520519	1.00[EUR][1000 genomes]
rs16957409	1.00[EUR][1000 genomes]
rs16957462	1.00[EUR][1000 genomes]
rs16957499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863601	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2271964	1.00[EUR][1000 genomes]
rs2271965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444219	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28539201	1.00[EUR][1000 genomes]
rs3177296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34222269	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4419035	1.00[EUR][1000 genomes]
rs505276	1.00[EUR][1000 genomes]
rs58059509	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59401274	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900401	1.00[EUR][1000 genomes]
rs60481556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61268760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61343376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711558	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7162620	1.00[EUR][1000 genomes]
rs7162971	1.00[EUR][1000 genomes]
rs7171797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176183	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035881	1.00[EUR][1000 genomes]
rs8039342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040960	1.00[EUR][1000 genomes]
rs8041312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806236	1.00[EUR][1000 genomes]
rs9806629	1.00[EUR][1000 genomes]
rs9972314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972367	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv974566	chr15:43423478-43426186	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43415600-43425200	Weak transcription	Gastric	stomach
2	chr15:43415800-43425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:43415800-43425000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr15:43415800-43425000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:43415800-43425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:43415800-43425000	Weak transcription	Aorta	Aorta
7	chr15:43415800-43425000	Weak transcription	Brain Anterior Caudate	brain
8	chr15:43415800-43425200	Weak transcription	Esophagus	oesophagus
9	chr15:43416200-43425000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:43417600-43425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:43417600-43425000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:43418400-43425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:43419800-43425000	Weak transcription	Colonic Mucosa	Colon
14	chr15:43420000-43425000	Weak transcription	Pancreas	Pancrea
15	chr15:43420000-43425000	Weak transcription	Stomach Mucosa	stomach
16	chr15:43420200-43424600	Weak transcription	A549	lung
17	chr15:43420200-43425000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:43420400-43424400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:43420400-43425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:43421000-43424800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:43422000-43425000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:43422000-43425000	Weak transcription	Fetal Intestine Large	intestine
23	chr15:43422000-43425000	Weak transcription	Small Intestine	intestine
24	chr15:43422000-43425000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr15:43422200-43424600	Weak transcription	HepG2	liver
26	chr15:43422200-43425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:43423400-43424400	Weak transcription	Fetal Intestine Small	intestine
28	chr15:43423600-43425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:43424000-43425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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