Variant report

Variant	rs629533
Chromosome Location	chr6:4108862-4108863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4108578..4110178-chr6:4111693..4114473,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1204950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs582301	0.94[AMR][1000 genomes]
rs583807	0.82[JPT][hapmap]
rs590182	0.82[JPT][hapmap]
rs605301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608917	1.00[ASN][1000 genomes]
rs611677	0.95[ASN][1000 genomes]
rs622859	1.00[ASN][1000 genomes]
rs625577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627902	1.00[ASN][1000 genomes]
rs633677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653674	0.82[JPT][hapmap]
rs656694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853412	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs853421	1.00[ASN][1000 genomes]
rs853422	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs945251	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs629533	FAM38B	trans	lymphoblastoid	seeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4101800-4110200	Weak transcription	Stomach Mucosa	stomach
2	chr6:4102600-4113800	Weak transcription	Psoas Muscle	Psoas
3	chr6:4103400-4109800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:4103400-4110000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:4103400-4115400	Weak transcription	Fetal Brain Male	brain
6	chr6:4103400-4115600	Weak transcription	Fetal Stomach	stomach
7	chr6:4103400-4115600	Weak transcription	Gastric	stomach
8	chr6:4104400-4109200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:4104600-4115600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:4104600-4115600	Weak transcription	Pancreas	Pancrea
11	chr6:4104800-4115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:4104800-4115200	Weak transcription	HMEC	breast
13	chr6:4105000-4113600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:4105400-4111000	Enhancers	HepG2	liver
15	chr6:4106800-4109200	Weak transcription	HUVEC	blood vessel
16	chr6:4107200-4114800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:4108200-4110600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:4108200-4110800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:4108400-4109000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr6:4108400-4110600	Enhancers	Fetal Intestine Small	intestine
21	chr6:4108800-4109000	Enhancers	Left Ventricle	heart
22	chr6:4108800-4109200	Enhancers	Small Intestine	intestine
23	chr6:4108800-4109200	Bivalent/Poised TSS	Osteobl	bone
24	chr6:4108800-4109600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:4108800-4110000	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr6:4108800-4110600	Enhancers	Adipose Nuclei	Adipose

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