Variant report

Variant	rs73480194
Chromosome Location	chr7:150211462-150211463
allele	C/T
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	chr7:150211428-150213403	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
STRADBP1	TF binding region
GIMAP7	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10952264	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11974030	1.00[EUR][1000 genomes]
rs11979529	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11980799	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12669961	1.00[EUR][1000 genomes]
rs1317277	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2293173	0.84[ASN][1000 genomes]
rs4529373	0.83[ASN][1000 genomes]
rs58685328	0.83[ASN][1000 genomes]
rs59289349	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62502275	1.00[EUR][1000 genomes]
rs6464084	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6949346	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6959617	0.84[ASN][1000 genomes]
rs73463344	1.00[EUR][1000 genomes]
rs73471360	0.84[ASN][1000 genomes]
rs73727313	0.84[ASN][1000 genomes]
rs7788994	1.00[EUR][1000 genomes]
rs7808821	1.00[EUR][1000 genomes]
rs7810366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690254	0.83[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	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	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150210400-150211600	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr7:150210600-150211600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr7:150210600-150211800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr7:150210600-150211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr7:150210800-150211600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:150210800-150211600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:150211000-150211600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:150211000-150211600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr7:150211000-150211800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:150211000-150211800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr7:150211000-150211800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr7:150211000-150211800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:150211000-150212000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr7:150211000-150212000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:150211000-150212000	Flanking Active TSS	Dnd41	blood
16	chr7:150211000-150212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:150211000-150213200	Active TSS	Lung	lung
18	chr7:150211000-150214600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:150211000-150214800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:150211000-150216200	Active TSS	Psoas Muscle	Psoas
21	chr7:150211000-150219000	Active TSS	Right Atrium	heart
22	chr7:150211200-150211600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr7:150211200-150211600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:150211200-150211600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr7:150211200-150211600	Enhancers	Thymus	Thymus
26	chr7:150211200-150211600	Enhancers	GM12878-XiMat	blood
27	chr7:150211200-150213000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:150211200-150214800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:150211200-150217000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:150211400-150211600	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr7:150211400-150211600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:150211400-150211600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr7:150211400-150211800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:150211400-150211800	Flanking Active TSS	Fetal Thymus	thymus
35	chr7:150211400-150212000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr7:150211400-150212200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:150211400-150212200	Flanking Active TSS	HUVEC	blood vessel
38	chr7:150211400-150214600	Active TSS	Brain Anterior Caudate	brain
39	chr7:150211400-150215400	Active TSS	Left Ventricle	heart
40	chr7:150211400-150217400	Active TSS	Adipose Nuclei	Adipose
41	chr7:150211400-150218600	Active TSS	Duodenum Mucosa	Duodenum

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