Variant report

Variant	rs2555646
Chromosome Location	chr4:175437613-175437614
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12644138	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647154	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647906	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649903	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365613	0.88[EUR][1000 genomes]
rs2555645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797009	0.88[EUR][1000 genomes]
rs3797010	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4516687	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv880970	chr4:175434394-175444006	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2555646	KIAA1712	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:175418000-175438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:175418600-175437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:175419200-175438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:175420600-175441000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:175421000-175439200	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:175427400-175438400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:175427400-175440600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:175427400-175443000	Weak transcription	Lung	lung
12	chr4:175427600-175441800	Weak transcription	Fetal Thymus	thymus
13	chr4:175428000-175439400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:175429400-175441200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:175429400-175442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:175431000-175442400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:175432800-175441600	Weak transcription	Placenta	Placenta
18	chr4:175433200-175442600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:175435800-175442000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:175436400-175439200	Weak transcription	Primary T cells from cord blood	blood
21	chr4:175436800-175441400	Weak transcription	Stomach Mucosa	stomach
22	chr4:175437200-175438200	Strong transcription	A549	lung
23	chr4:175437600-175439600	Enhancers	Liver	Liver

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