Variant report

Variant	rs10234910
Chromosome Location	chr7:150414674-150414675
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	POLR2A	chr7:150413255-150415429	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150411749..150416479-chr7:150417256..150421069,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GIMAP5-2	chr7:150414455-150414677	expReg_chr7_12280_+

Variant related genes	Relation type
GIMAP5	TF binding region
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1016193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243000	0.86[EUR][1000 genomes]
rs10243355	0.85[EUR][1000 genomes]
rs10268452	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275039	0.86[EUR][1000 genomes]
rs10275417	0.85[EUR][1000 genomes]
rs10278670	0.84[EUR][1000 genomes]
rs2049248	0.84[EUR][1000 genomes]
rs2241021	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2373845	0.86[EUR][1000 genomes]
rs2373846	0.86[EUR][1000 genomes]
rs2373847	0.86[EUR][1000 genomes]
rs4629771	0.85[EUR][1000 genomes]
rs58568453	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6944136	0.86[EUR][1000 genomes]
rs6952002	0.82[ASN][1000 genomes]
rs73163557	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357320	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription 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	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150412400-150416000	Active TSS	Psoas Muscle	Psoas
2	chr7:150412800-150416000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:150412800-150416400	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:150412800-150416400	Active TSS	Right Atrium	heart
5	chr7:150413000-150415000	Flanking Active TSS	Dnd41	blood
6	chr7:150413000-150415200	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:150413000-150415800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150413000-150415800	Active TSS	Adipose Nuclei	Adipose
9	chr7:150413000-150416200	Active TSS	Left Ventricle	heart
10	chr7:150413200-150415400	Active TSS	Lung	lung
11	chr7:150413200-150415400	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:150413200-150415400	Active TSS	Small Intestine	intestine
13	chr7:150413200-150415400	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:150413200-150415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:150413200-150415800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:150413200-150415800	Active TSS	Duodenum Mucosa	Duodenum
17	chr7:150413200-150416000	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:150413400-150415200	Active TSS	Primary T cells from cord blood	blood
19	chr7:150413400-150415400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:150413400-150415400	Active TSS	Fetal Muscle Leg	muscle
21	chr7:150413400-150415600	Active TSS	Primary T cells fromperipheralblood	blood
22	chr7:150413400-150415600	Active TSS	Liver	Liver
23	chr7:150413400-150415800	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr7:150413400-150416000	Active TSS	Brain Anterior Caudate	brain
25	chr7:150413600-150414800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:150413600-150415000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr7:150413600-150415000	Active TSS	Fetal Stomach	stomach
28	chr7:150413600-150415200	Active TSS	Colonic Mucosa	Colon
29	chr7:150413600-150415200	Active TSS	Fetal Muscle Trunk	muscle
30	chr7:150413600-150415400	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr7:150413600-150415400	Active TSS	Brain Hippocampus Middle	brain
32	chr7:150413600-150415400	Active TSS	Placenta	Placenta
33	chr7:150413600-150415400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:150413600-150415400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr7:150413600-150415400	Active TSS	Spleen	Spleen
36	chr7:150413600-150415400	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:150413600-150415600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:150413600-150415600	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr7:150413600-150415600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:150413600-150415600	Active TSS	Right Ventricle	heart
41	chr7:150413600-150415800	Active TSS	Thymus	Thymus
42	chr7:150413600-150416000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:150413800-150415200	Active TSS	Brain Cingulate Gyrus	brain
44	chr7:150413800-150415200	Active TSS	Brain Substantia Nigra	brain
45	chr7:150413800-150416000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:150413800-150416000	Active TSS	GM12878-XiMat	blood
47	chr7:150414000-150415400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr7:150414000-150419400	Weak transcription	Fetal Lung	lung
49	chr7:150414200-150415000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr7:150414200-150415200	Active TSS	Brain Angular Gyrus	brain

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