Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:168795902..168797646-chr1:168799852..168802336,3	K562	blood:
2	chr1:168800645..168803136-chr1:168805186..168807347,2	K562	blood:
3	chr1:168764194..168766582-chr1:168798896..168801422,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12239491	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405834	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12405968	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407010	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407753	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13375532	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861687	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59682281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61567478	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74123028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74123036	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525887	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548313	0.92[ASN][1000 genomes]
rs7548404	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs857646	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168793800-168803200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168794000-168801600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:168794000-168802800	Weak transcription	Gastric	stomach
4	chr1:168795600-168801600	Weak transcription	Fetal Stomach	stomach
5	chr1:168798200-168802600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:168798200-168802800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:168799000-168802800	Enhancers	HepG2	liver
8	chr1:168799200-168804000	Enhancers	Fetal Intestine Small	intestine
9	chr1:168799200-168804000	Enhancers	Stomach Mucosa	stomach
10	chr1:168799400-168801200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:168800200-168801800	Weak transcription	Fetal Heart	heart
12	chr1:168800200-168804000	Enhancers	Fetal Intestine Large	intestine
13	chr1:168800400-168801400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:168800400-168801600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:168800600-168801400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:168800600-168802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:168800800-168801400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:168800800-168801800	Enhancers	Spleen	Spleen
19	chr1:168800800-168802200	Enhancers	Pancreas	Pancrea

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