Variant report

Variant	rs250734
Chromosome Location	chr5:76034763-76034764
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76010538..76012430-chr5:76033988..76036360,2	K562	blood:
2	chr5:76011354..76013576-chr5:76033498..76036303,3	K562	blood:
3	chr5:76015744..76018157-chr5:76033229..76035001,2	K562	blood:
4	chr5:76034540..76037024-chr5:76038792..76041708,3	K562	blood:

Variant related genes	Relation type
ENSG00000181104	Chromatin interaction
ENSG00000225407	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs153309	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs153311	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs250733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250735	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250737	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250753	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250734	IQGAP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
2	chr5:76026800-76034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:76028800-76034800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:76029000-76034800	Weak transcription	Adipose Nuclei	Adipose
5	chr5:76029200-76034800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:76029200-76034800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:76029200-76035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:76030000-76034800	Weak transcription	HMEC	breast
9	chr5:76030000-76040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:76030400-76038600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:76030400-76040200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:76030600-76039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:76030600-76040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:76030600-76040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:76030800-76040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:76031600-76034800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:76031600-76035600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:76031600-76035800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr5:76031600-76035800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:76031800-76035000	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:76031800-76035800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:76032200-76034800	Weak transcription	NHEK	skin
24	chr5:76033000-76035000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:76033600-76034800	Enhancers	Fetal Muscle Leg	muscle
26	chr5:76033800-76035600	Enhancers	NHDF-Ad	bronchial
27	chr5:76034000-76035000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:76034000-76035400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:76034000-76035600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:76034000-76035600	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:76034000-76035800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:76034200-76034800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:76034200-76035000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr5:76034200-76035000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr5:76034200-76035200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:76034200-76035400	Enhancers	Lung	lung
37	chr5:76034200-76035600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:76034200-76035600	Enhancers	Fetal Thymus	thymus
39	chr5:76034400-76035000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:76034400-76035000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:76034400-76035000	Flanking Active TSS	HUVEC	blood vessel
42	chr5:76034400-76035400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:76034400-76035600	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:76034400-76035600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:76034400-76035600	Enhancers	Fetal Intestine Large	intestine
46	chr5:76034600-76034800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:76034600-76034800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:76034600-76034800	Enhancers	Spleen	Spleen
49	chr5:76034600-76034800	Flanking Active TSS	A549	lung
50	chr5:76034600-76035000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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