Variant report

Variant	rs2206295
Chromosome Location	chr1:168802593-168802594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168800645..168803136-chr1:168805186..168807347,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10800385	0.90[EUR][1000 genomes]
rs10800387	0.90[EUR][1000 genomes]
rs10800388	0.90[EUR][1000 genomes]
rs10918991	0.83[EUR][1000 genomes]
rs10918992	0.83[EUR][1000 genomes]
rs10918996	0.88[CHB][hapmap]
rs10918999	0.90[EUR][1000 genomes]
rs12030111	0.91[EUR][1000 genomes]
rs12035896	0.90[EUR][1000 genomes]
rs12047566	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17102	0.87[EUR][1000 genomes]
rs200558	0.90[EUR][1000 genomes]
rs200561	0.87[ASN][1000 genomes]
rs200562	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs200565	0.90[EUR][1000 genomes]
rs200571	0.90[EUR][1000 genomes]
rs2092312	0.87[JPT][hapmap];0.90[EUR][1000 genomes]
rs2206296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2419382	0.89[EUR][1000 genomes]
rs6670747	0.90[EUR][1000 genomes]
rs6679675	0.90[EUR][1000 genomes]
rs6679995	0.90[EUR][1000 genomes]
rs6683811	0.90[EUR][1000 genomes]
rs6695006	0.90[EUR][1000 genomes]
rs6704039	0.90[EUR][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:31 , 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	chr1:168794000-168802800	Weak transcription	Gastric	stomach
3	chr1:168798200-168802600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:168798200-168802800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:168799000-168802800	Enhancers	HepG2	liver
6	chr1:168799200-168804000	Enhancers	Fetal Intestine Small	intestine
7	chr1:168799200-168804000	Enhancers	Stomach Mucosa	stomach
8	chr1:168800200-168804000	Enhancers	Fetal Intestine Large	intestine
9	chr1:168800600-168802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:168801200-168802800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:168801400-168802600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:168801400-168803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:168801400-168803000	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:168801600-168803200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:168801600-168803800	Enhancers	Left Ventricle	heart
16	chr1:168801600-168804200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:168801800-168803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:168801800-168803000	Weak transcription	Spleen	Spleen
19	chr1:168801800-168803800	Enhancers	Right Ventricle	heart
20	chr1:168801800-168806000	Enhancers	Fetal Heart	heart
21	chr1:168802000-168803000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:168802000-168803000	Weak transcription	Fetal Stomach	stomach
23	chr1:168802000-168803000	Weak transcription	Right Atrium	heart
24	chr1:168802000-168803000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:168802000-168803000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:168802000-168803200	Enhancers	Adipose Nuclei	Adipose
27	chr1:168802200-168802600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:168802200-168802600	Weak transcription	Lung	lung
29	chr1:168802200-168802600	Weak transcription	Pancreas	Pancrea
30	chr1:168802200-168803200	Weak transcription	Fetal Kidney	kidney
31	chr1:168802400-168802800	Weak transcription	Small Intestine	intestine

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