Variant report

Variant	rs73438320
Chromosome Location	chr7:112428648-112428649
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112428438-112430745	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112428147..112430239-chr7:112752255..112754378,2	K562	blood:
2	chr7:112347421..112349959-chr7:112428528..112430366,2	MCF-7	breast:
3	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
4	chr7:112389614..112392612-chr7:112427790..112430309,2	K562	blood:
5	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

No data

Variant related genes	Relation type
TMEM168	TF binding region
ENSG00000146802	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17159929	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60112566	1.00[EUR][1000 genomes]
rs61617214	1.00[EUR][1000 genomes]
rs6950471	1.00[EUR][1000 genomes]
rs6960384	1.00[EUR][1000 genomes]
rs73436469	1.00[EUR][1000 genomes]
rs73436475	1.00[EUR][1000 genomes]
rs73436488	1.00[EUR][1000 genomes]
rs73436494	1.00[EUR][1000 genomes]
rs73436497	1.00[EUR][1000 genomes]
rs73436499	1.00[EUR][1000 genomes]
rs73438310	1.00[EUR][1000 genomes]
rs73438322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784144	1.00[EUR][1000 genomes]
rs7799100	1.00[EUR][1000 genomes]
rs7801228	1.00[EUR][1000 genomes]
rs7808346	1.00[EUR][1000 genomes]
rs821784	1.00[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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112393600-112429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:112397600-112429600	Weak transcription	Pancreas	Pancrea
3	chr7:112398800-112428800	Weak transcription	Gastric	stomach
4	chr7:112400200-112429000	Weak transcription	HSMM	muscle
5	chr7:112404800-112428800	Weak transcription	Spleen	Spleen
6	chr7:112405600-112428800	Weak transcription	Osteobl	bone
7	chr7:112405800-112428800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:112406000-112428800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:112406000-112429000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:112406400-112428800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:112406400-112429000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:112411800-112428800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:112413200-112429000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:112413800-112429000	Weak transcription	Esophagus	oesophagus
15	chr7:112418600-112429000	Weak transcription	Placenta	Placenta
16	chr7:112419400-112429200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:112421600-112428800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:112422800-112429000	Weak transcription	Psoas Muscle	Psoas
19	chr7:112422800-112429200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:112422800-112429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:112423000-112428800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:112423000-112428800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:112423000-112428800	Weak transcription	Aorta	Aorta
24	chr7:112423000-112429000	Weak transcription	HSMMtube	muscle
25	chr7:112423000-112429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:112423200-112428800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:112423200-112429000	Weak transcription	Right Ventricle	heart
28	chr7:112423200-112429600	Weak transcription	Lung	lung
29	chr7:112423600-112428800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:112423800-112428800	Weak transcription	NHDF-Ad	bronchial
31	chr7:112424000-112428800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:112424000-112428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:112424200-112428800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:112424400-112429000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:112424400-112429000	Weak transcription	NH-A	brain
36	chr7:112424600-112428800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:112424600-112428800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:112424600-112428800	Weak transcription	Liver	Liver
39	chr7:112424600-112428800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:112424600-112428800	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:112424600-112429200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:112424800-112428800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:112424800-112428800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:112425000-112428800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:112425000-112428800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:112425000-112428800	Weak transcription	Fetal Thymus	thymus
47	chr7:112425000-112428800	Weak transcription	Left Ventricle	heart
48	chr7:112425200-112429000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:112427600-112428800	Weak transcription	Small Intestine	intestine
50	chr7:112428000-112428800	Enhancers	Fetal Intestine Small	intestine

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