Variant report

Variant	rs2386624
Chromosome Location	chr10:5730700-5730701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr10:5730461-5730720	GM12878	blood:	n/a	n/a
2	ZNF384	chr10:5730057-5730836	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5729799..5732173-chr10:5916064..5918790,2	MCF-7	breast:
2	chr10:4911567..4913119-chr10:5727909..5730757,2	K562	blood:
3	chr10:5729840..5732495-chr10:5739235..5741106,2	MCF-7	breast:
4	chr10:5648373..5651329-chr10:5728348..5730813,2	K562	blood:
5	chr10:5488381..5491037-chr10:5730323..5732095,2	MCF-7	breast:
6	chr10:5484441..5486510-chr10:5728306..5731305,2	MCF-7	breast:
7	chr10:5730140..5732838-chr10:5762555..5765263,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10737013	0.88[ASN][1000 genomes]
rs10737019	0.88[ASN][1000 genomes]
rs10752069	0.90[ASN][1000 genomes]
rs10795347	0.88[ASN][1000 genomes]
rs10795515	0.88[ASN][1000 genomes]
rs10795520	0.89[ASN][1000 genomes]
rs10795541	0.80[ASN][1000 genomes]
rs10905065	0.89[ASN][1000 genomes]
rs10905137	0.82[ASN][1000 genomes]
rs1317420	0.89[ASN][1000 genomes]
rs2246399	0.81[ASN][1000 genomes]
rs2380203	0.80[ASN][1000 genomes]
rs2386623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890365	0.89[ASN][1000 genomes]
rs3736462	0.81[ASN][1000 genomes]
rs7100576	0.85[ASN][1000 genomes]
rs7913067	0.87[ASN][1000 genomes]
rs9423936	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9423948	0.88[ASN][1000 genomes]
rs9424221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	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
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2386624	GDI2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5727800-5733800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:5728000-5734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:5728200-5731400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:5728200-5733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:5728200-5733800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:5728200-5733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:5728200-5733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:5728200-5733800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:5728200-5733800	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:5728200-5733800	Weak transcription	Gastric	stomach
11	chr10:5728200-5733800	Weak transcription	Lung	lung
12	chr10:5728200-5734000	Weak transcription	Esophagus	oesophagus
13	chr10:5728200-5734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:5728200-5734400	Weak transcription	Aorta	Aorta
15	chr10:5728400-5730800	Enhancers	Primary B cells from cord blood	blood
16	chr10:5728400-5731000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr10:5728400-5731600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr10:5728400-5734400	Weak transcription	HSMM	muscle
19	chr10:5728600-5731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr10:5728600-5731400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:5728600-5731400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr10:5728600-5731600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:5728600-5732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:5728600-5732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:5728600-5733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr10:5728600-5733400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:5728600-5733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:5728600-5733600	Weak transcription	Fetal Heart	heart
29	chr10:5728600-5733800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr10:5728600-5733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr10:5728600-5733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:5728600-5733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:5728600-5733800	Weak transcription	Brain Germinal Matrix	brain
34	chr10:5728600-5733800	Weak transcription	Brain Substantia Nigra	brain
35	chr10:5728600-5733800	Weak transcription	Fetal Thymus	thymus
36	chr10:5728600-5733800	Weak transcription	Psoas Muscle	Psoas
37	chr10:5728600-5734000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:5728600-5734000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr10:5728600-5734200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr10:5728600-5734200	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:5728600-5734200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:5728600-5734200	Weak transcription	Right Ventricle	heart
43	chr10:5728600-5734200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr10:5728600-5734200	Weak transcription	Thymus	Thymus
45	chr10:5728800-5732400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr10:5728800-5732400	Weak transcription	Colon Smooth Muscle	Colon
47	chr10:5728800-5732400	Weak transcription	A549	lung
48	chr10:5728800-5732400	Weak transcription	NHEK	skin
49	chr10:5728800-5732600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:5728800-5733400	Weak transcription	Rectal Mucosa Donor 29	rectum

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