Variant report

Variant	rs7789772
Chromosome Location	chr7:112419964-112419965
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	JUND	chr7:112419774-112420004	HepG2	liver:	n/a	chr7:112419927-112419938 chr7:112419927-112419939 chr7:112419929-112419938 chr7:112419928-112419938 chr7:112419928-112419938 chr7:112419928-112419938
2	FOS	chr7:112419816-112420099	MCF10A-Er-Src	breast:	n/a	chr7:112419927-112419939 chr7:112419929-112419938 chr7:112419928-112419938 chr7:112419928-112419938 chr7:112419928-112419938
3	GATA3	chr7:112419852-112420002	SH-SY5Y	brain:	n/a	chr7:112419927-112419936
4	FOS	chr7:112419774-112420078	MCF10A-Er-Src	breast:	n/a	chr7:112419927-112419939 chr7:112419929-112419938 chr7:112419928-112419938 chr7:112419928-112419938 chr7:112419928-112419938
5	FOXA2	chr7:112419778-112420062	A549	lung:	n/a	n/a
6	FOS	chr7:112419904-112420096	MCF10A-Er-Src	breast:	n/a	chr7:112419927-112419939 chr7:112419929-112419938 chr7:112419928-112419938 chr7:112419928-112419938 chr7:112419928-112419938

Variant related genes	Relation type
TMEM168	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10216223	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10247759	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249701	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10269793	0.90[ASN][1000 genomes]
rs10271752	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273589	0.90[ASN][1000 genomes]
rs10280638	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1227155	0.90[ASN][1000 genomes]
rs1227158	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227159	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227163	0.90[ASN][1000 genomes]
rs1227168	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227171	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227172	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227174	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227176	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227177	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227178	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227181	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227183	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1227190	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238698	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615468	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1718955	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718957	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718961	0.81[ASN][1000 genomes]
rs1718969	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1796491	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796492	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796493	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796512	0.81[ASN][1000 genomes]
rs1796516	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922907	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2028028	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2457	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708295	0.81[ASN][1000 genomes]
rs2708296	0.81[ASN][1000 genomes]
rs6466421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945635	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946335	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6948876	0.90[ASN][1000 genomes]
rs6955834	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970266	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs726593	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7777973	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7778135	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7803405	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649356	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9655816	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112385400-112422400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:112389000-112422800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:112390200-112422800	Weak transcription	Thymus	Thymus
4	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:112395200-112422600	Weak transcription	Right Ventricle	heart
6	chr7:112395600-112422400	Weak transcription	Aorta	Aorta
7	chr7:112396200-112428600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:112397000-112428000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:112397400-112422200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
11	chr7:112398800-112428800	Weak transcription	Gastric	stomach
12	chr7:112400000-112426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:112400200-112422400	Weak transcription	Left Ventricle	heart
14	chr7:112400200-112429000	Weak transcription	HSMM	muscle
15	chr7:112400600-112428600	Weak transcription	Brain Substantia Nigra	brain
16	chr7:112403400-112428600	Weak transcription	Fetal Stomach	stomach
17	chr7:112404800-112422400	Weak transcription	Fetal Thymus	thymus
18	chr7:112404800-112422400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:112404800-112427000	Weak transcription	Small Intestine	intestine
20	chr7:112404800-112428800	Weak transcription	Spleen	Spleen
21	chr7:112405000-112421200	Weak transcription	HUVEC	blood vessel
22	chr7:112405000-112423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:112405200-112422400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr7:112405200-112422600	Weak transcription	Liver	Liver
25	chr7:112405400-112423200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:112405400-112423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:112405400-112428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:112405600-112420000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:112405600-112422400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:112405600-112428800	Weak transcription	Osteobl	bone
31	chr7:112405800-112421400	Weak transcription	Stomach Mucosa	stomach
32	chr7:112405800-112422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:112405800-112422800	Weak transcription	Lung	lung
34	chr7:112405800-112422800	Weak transcription	K562	blood
35	chr7:112405800-112428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:112405800-112428800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:112406000-112422600	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:112406000-112428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:112406000-112429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:112406200-112422600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:112406200-112422800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:112406400-112422400	Weak transcription	Psoas Muscle	Psoas
43	chr7:112406400-112422800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:112406400-112428800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:112406400-112429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:112406600-112428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:112406800-112423400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:112407600-112422600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:112407600-112422600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:112407600-112422800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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