Variant report

Variant	rs7584672
Chromosome Location	chr2:233729797-233729798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:233729783-233730285	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:233729791-233730135	HepG2	liver:	n/a	chr2:233729950-233729961
3	POLR2A	chr2:233729456-233730205	K562	blood:	n/a	n/a
4	CEBPB	chr2:233729783-233730122	IMR90	lung:	n/a	chr2:233729950-233729961

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233715218..233716776-chr2:233729357..233731524,2	MCF-7	breast:
2	chr2:233727449..233731351-chr2:233736566..233741117,5	MCF-7	breast:

Variant related genes	Relation type
C2orf82	TF binding region
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11683827	1.00[CHB][hapmap]
rs12463466	1.00[CHB][hapmap]
rs12477794	0.82[JPT][hapmap]
rs1554218	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2044451	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7355380	0.82[JPT][hapmap]
rs7602208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8192539	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7584672	DEGS1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
3	chr2:233723000-233733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:233723200-233733200	Weak transcription	Small Intestine	intestine
6	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
7	chr2:233723200-233738600	Weak transcription	K562	blood
8	chr2:233723600-233729800	Weak transcription	HUVEC	blood vessel
9	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
12	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:233724000-233734600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
15	chr2:233724200-233732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:233724200-233733800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:233724400-233734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:233724600-233734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
21	chr2:233724800-233732800	Weak transcription	Hela-S3	cervix
22	chr2:233724800-233734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:233725000-233735800	Weak transcription	Fetal Thymus	thymus
24	chr2:233726000-233730400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:233726000-233733400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:233726000-233737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:233726000-233740400	Weak transcription	HMEC	breast
28	chr2:233726200-233735000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:233726200-233735600	Weak transcription	Osteobl	bone
30	chr2:233726200-233737400	Weak transcription	Fetal Brain Female	brain
31	chr2:233726400-233730600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:233726400-233731000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:233726400-233731400	Weak transcription	Ovary	ovary
34	chr2:233726400-233732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:233726400-233732400	Weak transcription	Fetal Kidney	kidney
36	chr2:233726400-233733000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:233726400-233734400	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:233726400-233735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:233726400-233735000	Weak transcription	Spleen	Spleen
40	chr2:233726400-233736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:233726400-233736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:233726400-233736200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:233726400-233738200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:233726400-233739000	Weak transcription	Thymus	Thymus
45	chr2:233726400-233740200	Weak transcription	Primary B cells from cord blood	blood
46	chr2:233726400-233740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:233726400-233740800	Weak transcription	HSMM	muscle
48	chr2:233726600-233730400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:233726600-233730400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:233726600-233731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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