Variant report

Variant	rs1816204
Chromosome Location	chr4:175413644-175413645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11133038	0.81[ASN][1000 genomes]
rs11133040	0.82[ASN][1000 genomes]
rs11133042	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17052166	0.81[ASN][1000 genomes]
rs2098948	0.82[ASN][1000 genomes]
rs2555660	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2555667	0.81[AMR][1000 genomes]
rs2612656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2612665	0.81[ASN][1000 genomes]
rs2612689	0.83[AFR][1000 genomes]
rs2612694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34991202	0.85[ASN][1000 genomes]
rs3846298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3857075	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6419992	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6835564	0.87[ASN][1000 genomes]
rs6838650	0.82[ASN][1000 genomes]
rs7670400	0.82[ASN][1000 genomes]
rs7685956	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691986	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7691993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881299	chr4:175403673-175415442	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880289	chr4:175412975-175437117	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881270	chr4:175413296-175425619	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175406800-175415200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:175406800-175415800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:175407000-175415000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:175409200-175415000	Weak transcription	Fetal Thymus	thymus
6	chr4:175409400-175424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:175410000-175424600	Weak transcription	Fetal Stomach	stomach
8	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:175410400-175418000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:175410800-175417400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:175410800-175420800	Weak transcription	Lung	lung
12	chr4:175410800-175425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:175410800-175430800	Weak transcription	Gastric	stomach
14	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:175411000-175418200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:175411600-175416600	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:175412200-175413800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:175412400-175413800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:175412400-175417800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:175412600-175414400	Enhancers	A549	lung
22	chr4:175412600-175415000	Weak transcription	Stomach Mucosa	stomach
23	chr4:175412600-175418000	Weak transcription	Hela-S3	cervix
24	chr4:175412600-175418400	Strong transcription	Placenta	Placenta
25	chr4:175412800-175414400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:175412800-175417200	Strong transcription	Liver	Liver
27	chr4:175412800-175418200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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