Variant report

Variant	rs3733860
Chromosome Location	chr5:75622814-75622815
allele	A/C
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	SP1	chr5:75622445-75622951	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:75613788..75615569-chr5:75621673..75623658,3	K562	blood:
2	chr5:75620781..75623735-chr5:75631052..75633279,2	MCF-7	breast:
3	chr5:75620579..75623947-chr5:75630745..75632949,3	K562	blood:
4	chr5:75621687..75623947-chr5:75631428..75633046,3	K562	blood:

Variant related genes	Relation type
ENSG00000266045	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10805900	0.87[JPT][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17747572	1.00[YRI][hapmap]
rs1834886	0.81[ASN][1000 genomes]
rs2012412	0.81[ASN][1000 genomes]
rs3733861	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs3909796	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs4703705	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs56286072	0.83[ASN][1000 genomes]
rs6453215	0.86[JPT][hapmap]
rs6892721	0.87[JPT][hapmap];0.80[MEX][hapmap]
rs7732296	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1032033	chr5:75609686-75646482	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023310	chr5:75609686-75651786	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3353515	chr5:75609996-75632294	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3425598	chr5:75610980-75647048	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2757120	chr5:75611597-75642974	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2759352	chr5:75611597-75642974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1028669	chr5:75611597-75643598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1020853	chr5:75611597-75651786	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv598678	chr5:75614737-75628413	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Venous thromboembolism	23650146	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3733860	SDHD	trans	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75620000-75625200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:75620200-75624600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:75620400-75623400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:75620400-75629400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:75620600-75627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:75620600-75629600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:75620600-75630400	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:75621000-75623200	Enhancers	Fetal Lung	lung
9	chr5:75621000-75624400	Enhancers	Fetal Thymus	thymus
10	chr5:75621000-75626800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:75621200-75623200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:75621200-75623200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:75621200-75623200	Enhancers	Placenta	Placenta
14	chr5:75621200-75623200	Enhancers	Thymus	Thymus
15	chr5:75621200-75623800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:75621200-75624400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:75621200-75624600	Enhancers	Fetal Stomach	stomach
18	chr5:75621200-75625200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:75621400-75623000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:75621400-75623200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:75621400-75627800	Weak transcription	Pancreas	Pancrea
22	chr5:75621600-75623200	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:75621600-75623200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:75621600-75623400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:75621600-75627000	Weak transcription	Fetal Intestine Small	intestine
26	chr5:75621800-75623000	Enhancers	Brain Germinal Matrix	brain
27	chr5:75621800-75623400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:75621800-75627000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:75622000-75623200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:75622000-75624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr5:75622000-75625600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:75622000-75627000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:75622000-75627000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr5:75622000-75629800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:75622200-75623200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:75622200-75623200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:75622200-75623200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:75622200-75623200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:75622200-75624000	Enhancers	Primary T cells from cord blood	blood
40	chr5:75622200-75624400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:75622200-75625400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:75622200-75629000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:75622400-75623000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr5:75622400-75623000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:75622400-75623000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr5:75622400-75623200	Enhancers	Fetal Muscle Leg	muscle
47	chr5:75622400-75624400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:75622400-75626800	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:75622400-75627600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:75622600-75623000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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