Variant report

Variant	rs7906719
Chromosome Location	chr10:5813968-5813969
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	chr10:5813391-5814134	K562	blood:	n/a	n/a
2	POLR2A	chr10:5813748-5814081	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5812574..5814087-chr10:5817504..5819962,2	K562	blood:
2	chr10:5813790..5816403-chr10:5853643..5855335,2	MCF-7	breast:
3	chr10:5789491..5791998-chr10:5812764..5814807,2	K562	blood:
4	chr10:5805448..5808070-chr10:5813747..5815733,2	K562	blood:

Variant related genes	Relation type
NRBF2P5	TF binding region
GDI2	TF binding region
ENSG00000270427	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10737012	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10737019	0.81[EUR][1000 genomes]
rs10737021	0.81[EUR][1000 genomes]
rs10752110	0.85[EUR][1000 genomes]
rs10752111	0.82[EUR][1000 genomes]
rs10795485	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10795488	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10795510	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10795541	0.89[EUR][1000 genomes]
rs10795547	0.81[EUR][1000 genomes]
rs10905137	0.85[EUR][1000 genomes]
rs11255085	0.84[EUR][1000 genomes]
rs11255228	0.84[EUR][1000 genomes]
rs11598374	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12571639	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1567706	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1567707	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1858447	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2175630	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2244755	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2380199	0.81[EUR][1000 genomes]
rs2380202	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2380203	0.83[EUR][1000 genomes]
rs2497	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797488	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2890365	0.80[EUR][1000 genomes]
rs2892078	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3736462	0.85[EUR][1000 genomes]
rs4237365	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4748913	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4748916	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60840965	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6602240	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7071811	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7078711	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7089100	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7096742	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7100576	0.81[EUR][1000 genomes]
rs7896749	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7909988	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7913067	0.82[EUR][1000 genomes]
rs9423726	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9423930	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription 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 miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7906719	GDI2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
7	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
8	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
9	chr10:5795000-5817800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:5796000-5822400	Strong transcription	Fetal Intestine Large	intestine
11	chr10:5797200-5819000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr10:5797400-5816600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr10:5797400-5816800	Strong transcription	Fetal Thymus	thymus
14	chr10:5797400-5847400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:5797600-5814600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:5797600-5816200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:5797600-5817200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:5797600-5817800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:5797600-5817800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:5797800-5816400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:5798000-5817000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:5798000-5817600	Strong transcription	Primary B cells from cord blood	blood
23	chr10:5798000-5818200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr10:5798000-5842800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr10:5798200-5815400	Strong transcription	NH-A	brain
26	chr10:5798200-5817000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:5798200-5843000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:5798400-5816600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:5798400-5817800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:5798400-5817800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:5798600-5815200	Strong transcription	Adipose Nuclei	Adipose
32	chr10:5798600-5817000	Strong transcription	Placenta	Placenta
33	chr10:5798600-5817400	Strong transcription	Osteobl	bone
34	chr10:5798600-5817800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr10:5798600-5818400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr10:5798600-5820200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:5798600-5842800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:5798800-5815200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:5798800-5817800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:5799200-5814600	Strong transcription	HUVEC	blood vessel
41	chr10:5800400-5814600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:5802000-5815000	Weak transcription	Fetal Heart	heart
43	chr10:5804800-5818200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:5805000-5843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:5805200-5819000	Strong transcription	GM12878-XiMat	blood
46	chr10:5805600-5818200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr10:5805800-5817600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:5806000-5818200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr10:5806200-5814600	Strong transcription	Fetal Intestine Small	intestine
50	chr10:5806200-5817800	Strong transcription	Fetal Muscle Leg	muscle

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