Variant report

Variant	rs17085321
Chromosome Location	chr5:95279701-95279702
allele	A/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	POLR2A	chr5:95279599-95279898	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95269858..95271491-chr5:95279043..95281999,2	K562	blood:
2	chr5:95271606..95274908-chr5:95279196..95282633,3	K562	blood:

Variant related genes	Relation type
ELL2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17085154	1.00[GIH][hapmap]
rs17085316	1.00[ASW][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17085317	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17085336	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17085367	1.00[YRI][hapmap]
rs17085371	1.00[ASW][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs17085401	0.86[ASW][hapmap]

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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17085321	ELL2	cis	lymphoblastoid	seeQTL
rs17085321	EMILIN1	trans	lymphoblastoid	seeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
2	chr5:95260000-95280600	Weak transcription	Esophagus	oesophagus
3	chr5:95260800-95295200	Weak transcription	Primary T cells from cord blood	blood
4	chr5:95262200-95295400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:95264800-95279800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:95264800-95285600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:95264800-95293800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:95265000-95285600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:95265400-95281800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:95267200-95280200	Weak transcription	Aorta	Aorta
11	chr5:95267400-95280000	Weak transcription	A549	lung
12	chr5:95270000-95283200	Genic enhancers	Muscle Satellite Cultured Cells	--
13	chr5:95270400-95284800	Weak transcription	Fetal Intestine Small	intestine
14	chr5:95270400-95285400	Weak transcription	Right Ventricle	heart
15	chr5:95272400-95283800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:95272600-95283400	Enhancers	Brain Substantia Nigra	brain
17	chr5:95272800-95291200	Weak transcription	NH-A	brain
18	chr5:95273000-95287600	Weak transcription	Primary B cells from cord blood	blood
19	chr5:95273000-95291200	Weak transcription	HSMMtube	muscle
20	chr5:95273600-95280200	Weak transcription	Gastric	stomach
21	chr5:95273800-95285600	Weak transcription	Stomach Mucosa	stomach
22	chr5:95274600-95280200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:95274800-95292200	Weak transcription	Placenta	Placenta
24	chr5:95275400-95291400	Weak transcription	NHDF-Ad	bronchial
25	chr5:95276800-95281800	Weak transcription	Left Ventricle	heart
26	chr5:95276800-95283000	Enhancers	Brain Anterior Caudate	brain
27	chr5:95277000-95282000	Strong transcription	HSMM	muscle
28	chr5:95277000-95282200	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:95277000-95290800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:95277200-95280600	Weak transcription	Pancreas	Pancrea
31	chr5:95277200-95280800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:95277200-95283600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:95277200-95284200	Weak transcription	Fetal Heart	heart
34	chr5:95277200-95291600	Weak transcription	Ovary	ovary
35	chr5:95277400-95281000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:95277400-95281000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:95277400-95282000	Weak transcription	Right Atrium	heart
38	chr5:95277400-95284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:95277400-95286400	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:95277600-95280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:95277600-95280200	Genic enhancers	GM12878-XiMat	blood
42	chr5:95277600-95280400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:95277600-95280600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:95277600-95280600	Weak transcription	Psoas Muscle	Psoas
45	chr5:95277600-95280600	Weak transcription	NHLF	lung
46	chr5:95277600-95282400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:95277600-95283200	Weak transcription	Small Intestine	intestine
48	chr5:95277600-95285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:95277600-95287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:95277800-95280200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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