Variant report

Variant	rs11773348
Chromosome Location	chr7:48032321-48032322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:48032166-48032393	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:48032220-48032370	HCFaa	heart:	n/a	n/a
3	CTCF	chr7:48032180-48032330	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr7:48032180-48032330	HAc	cerebellar:	n/a	n/a
5	CTCF	chr7:48032220-48032370	RPTEC	kidney:	n/a	n/a
6	RAD21	chr7:48032027-48032409	HCT-116	colon:	n/a	n/a
7	POLR2A	chr7:48031217-48032512	GM12891	blood:	n/a	n/a
8	CTCF	chr7:48032180-48032330	AG04449	skin:	n/a	n/a
9	RAD21	chr7:48032067-48032322	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr7:48032200-48032350	HCM	heart:	n/a	n/a
11	CTCF	chr7:48032320-48032470	RPTEC	kidney:	n/a	n/a
12	RAD21	chr7:48031977-48032469	HCT-116	colon:	n/a	n/a
13	CTCF	chr7:48032200-48032350	AG09309	skin:	n/a	n/a
14	CTCF	chr7:48032126-48032333	IMR90	lung:	n/a	n/a
15	CTCF	chr7:48032180-48032330	Caco-2	colon:	n/a	n/a
16	CTCF	chr7:48031964-48032559	HCT-116	colon:	n/a	n/a
17	CTCF	chr7:48032180-48032330	HMEC	breast:	n/a	n/a
18	CTCF	chr7:48031046-48032430	A549	lung:	n/a	chr7:48031498-48031511 chr7:48031495-48031513
19	CTCF	chr7:48032240-48032390	HPAF	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:48016045..48020914-chr7:48030569..48033658,6	K562	blood:
2	chr7:48031095..48033453-chr7:48087493..48089900,2	K562	blood:
3	chr7:48017886..48020914-chr7:48029520..48034474,4	K562	blood:
4	chr7:48031501..48032431-chr7:48127706..48128521,2	MCF-7	breast:
5	chr7:48032161..48032696-chr7:48149524..48150293,2	MCF-7	breast:

No data

Variant related genes	Relation type
SUN3	TF binding region
ENSG00000136273	Chromatin interaction
ENSG00000183696	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10247913	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10253220	0.85[EUR][1000 genomes]
rs10253238	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256256	0.84[EUR][1000 genomes]
rs10261930	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951940	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951941	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951942	0.84[EUR][1000 genomes]
rs11761275	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11762077	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11764799	0.83[EUR][1000 genomes]
rs11766144	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11766891	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767002	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768277	0.83[EUR][1000 genomes]
rs11772387	0.87[EUR][1000 genomes]
rs12535580	0.85[EUR][1000 genomes]
rs12702405	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12702406	0.86[EUR][1000 genomes]
rs1318327	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13230023	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1574242	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1915960	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1915962	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1915966	0.87[EUR][1000 genomes]
rs1915967	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1915968	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1915971	0.83[EUR][1000 genomes]
rs1915972	0.82[EUR][1000 genomes]
rs2037482	0.84[EUR][1000 genomes]
rs2348666	0.83[EUR][1000 genomes]
rs2348667	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2348670	0.91[ASN][1000 genomes]
rs2708884	0.81[EUR][1000 genomes]
rs2708885	0.80[EUR][1000 genomes]
rs2708901	0.81[EUR][1000 genomes]
rs2881991	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2881992	0.94[ASN][1000 genomes]
rs4332046	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4618593	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944437	0.80[EUR][1000 genomes]
rs6978838	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6979699	0.82[EUR][1000 genomes]
rs7357251	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7357327	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7456745	0.81[EUR][1000 genomes]
rs7779252	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7791084	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791572	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7791823	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7800590	0.83[ASN][1000 genomes]
rs7807611	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807612	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807654	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807750	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808462	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9690905	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11773348	UPP1	cis	Muscle Skeletal	GTEx
rs11773348	C7orf57	cis	Esophagus Mucosa	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48031800-48032600	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr7:48031800-48032800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:48031800-48032800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:48031800-48039200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:48031800-48039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:48031800-48039800	Weak transcription	Esophagus	oesophagus
7	chr7:48031800-48043600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:48031800-48050200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:48032000-48032400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:48032000-48032400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:48032000-48032400	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:48032000-48032400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:48032000-48032400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:48032000-48032400	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:48032000-48032400	Enhancers	Placenta	Placenta
16	chr7:48032000-48032400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:48032000-48032600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr7:48032000-48032600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:48032000-48032600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:48032000-48032600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:48032000-48032600	Enhancers	Fetal Intestine Large	intestine
22	chr7:48032000-48032600	Enhancers	Fetal Intestine Small	intestine
23	chr7:48032000-48032800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:48032000-48032800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:48032000-48032800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:48032000-48032800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:48032000-48032800	Enhancers	Fetal Thymus	thymus
28	chr7:48032000-48033000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:48032000-48034400	Weak transcription	Pancreas	Pancrea
30	chr7:48032200-48032400	Enhancers	Primary B cells from cord blood	blood
31	chr7:48032200-48032400	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr7:48032200-48032400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr7:48032200-48032400	Enhancers	Thymus	Thymus
34	chr7:48032200-48032600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:48032200-48032600	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:48032200-48032600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:48032200-48032600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:48032200-48032600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:48032200-48032600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:48032200-48032800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:48032200-48032800	Enhancers	Stomach Mucosa	stomach
42	chr7:48032200-48033000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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