Variant report

Variant	rs12057370
Chromosome Location	chr1:168802276-168802277
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	chr1:168795902..168797646-chr1:168799852..168802336,3	K562	blood:
2	chr1:168800645..168803136-chr1:168805186..168807347,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10919009	0.82[EUR][1000 genomes]
rs12075363	0.96[EUR][1000 genomes]
rs1322495	0.84[EUR][1000 genomes]
rs1570332	0.84[EUR][1000 genomes]
rs1570333	0.82[EUR][1000 genomes]
rs1590286	0.82[EUR][1000 genomes]
rs200577	0.84[EUR][1000 genomes]
rs2419389	0.84[EUR][1000 genomes]
rs56834131	1.00[EUR][1000 genomes]
rs61801628	1.00[EUR][1000 genomes]
rs61801629	1.00[EUR][1000 genomes]
rs61801630	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801631	0.96[EUR][1000 genomes]
rs61801632	0.96[EUR][1000 genomes]
rs61801634	0.96[EUR][1000 genomes]
rs61801636	0.96[EUR][1000 genomes]
rs61801637	0.96[EUR][1000 genomes]
rs61801650	0.96[EUR][1000 genomes]
rs61801651	0.96[EUR][1000 genomes]
rs61801652	0.96[EUR][1000 genomes]
rs61801653	0.96[EUR][1000 genomes]
rs61801655	0.96[EUR][1000 genomes]
rs61801656	0.96[EUR][1000 genomes]
rs6427154	0.84[EUR][1000 genomes]
rs6670610	0.82[EUR][1000 genomes]
rs6686910	0.82[EUR][1000 genomes]
rs704837	0.84[EUR][1000 genomes]
rs7513128	0.84[EUR][1000 genomes]
rs857632	0.84[EUR][1000 genomes]
rs857634	0.84[EUR][1000 genomes]
rs857636	0.84[EUR][1000 genomes]
rs857638	0.84[EUR][1000 genomes]
rs857639	0.82[EUR][1000 genomes]
rs857640	0.84[EUR][1000 genomes]
rs857642	0.84[EUR][1000 genomes]
rs857644	0.80[EUR][1000 genomes]
rs968047	0.84[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	chr1:168802000-168802400	Enhancers	Small Intestine	intestine
22	chr1:168802000-168803000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:168802000-168803000	Weak transcription	Fetal Stomach	stomach
24	chr1:168802000-168803000	Weak transcription	Right Atrium	heart
25	chr1:168802000-168803000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:168802000-168803000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:168802000-168803200	Enhancers	Adipose Nuclei	Adipose
28	chr1:168802200-168802600	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:168802200-168802600	Weak transcription	Lung	lung
30	chr1:168802200-168802600	Weak transcription	Pancreas	Pancrea
31	chr1:168802200-168803200	Weak transcription	Fetal Kidney	kidney

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