Variant report

Variant	rs6817004
Chromosome Location	chr4:129727677-129727678
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	chr4:129633680..129635737-chr4:129726437..129728935,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10008927	0.87[ASN][1000 genomes]
rs12512715	0.82[ASN][1000 genomes]
rs13120702	0.80[ASN][1000 genomes]
rs13143771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2162126	0.80[ASN][1000 genomes]
rs2217023	0.92[ASN][1000 genomes]
rs34520498	0.89[EUR][1000 genomes]
rs4975267	0.82[ASN][1000 genomes]
rs4975269	0.82[ASN][1000 genomes]
rs4975274	0.82[ASN][1000 genomes]
rs62317870	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6834108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687562	0.86[ASN][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6817004	C4orf33	Cis_1M	lymphoblastoid	RTeQTL
rs6817004	C4orf33	cis	Artery Tibial	GTEx
rs6817004	PHF17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129723600-129730000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:129723600-129730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:129724800-129730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:129725000-129730400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:129725200-129730400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:129725400-129728800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:129725400-129730000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr4:129725400-129730200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:129725400-129730200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:129725400-129730400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:129725400-129730400	Weak transcription	Stomach Mucosa	stomach
12	chr4:129725600-129730000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:129725600-129730000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:129725600-129730000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:129725600-129730000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:129725600-129730200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:129725600-129730200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:129725600-129730200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:129725600-129730400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:129726200-129728000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:129726200-129729000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:129726200-129729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:129726200-129730200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:129726200-129730200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:129726200-129730400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:129726200-129730400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:129726200-129730800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:129726400-129730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:129726400-129730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:129726800-129730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:129727200-129730400	Enhancers	Fetal Heart	heart
33	chr4:129727400-129730400	Weak transcription	Placenta	Placenta
34	chr4:129727400-129730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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