Variant report

Variant	rs73081401
Chromosome Location	chr7:17934711-17934712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12531993	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73069242	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73079341	0.82[EUR][1000 genomes]
rs73081336	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73081381	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17888400-17934800	Weak transcription	Colonic Mucosa	Colon
2	chr7:17900400-17956600	Weak transcription	A549	lung
3	chr7:17901400-17946200	Weak transcription	NHLF	lung
4	chr7:17901600-17939800	Weak transcription	Pancreas	Pancrea
5	chr7:17903400-17942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:17903600-17945400	Weak transcription	Aorta	Aorta
7	chr7:17903600-17953000	Weak transcription	Thymus	Thymus
8	chr7:17903800-17949000	Weak transcription	NHEK	skin
9	chr7:17906400-17937800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:17906400-17937800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:17907200-17937800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:17907200-17939800	Weak transcription	Lung	lung
13	chr7:17907200-17941000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:17907200-17954800	Weak transcription	Spleen	Spleen
15	chr7:17907400-17942400	Weak transcription	Small Intestine	intestine
16	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:17911600-17942400	Weak transcription	HepG2	liver
18	chr7:17911800-17939800	Weak transcription	Psoas Muscle	Psoas
19	chr7:17911800-17942400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:17912400-17939800	Weak transcription	Right Ventricle	heart
21	chr7:17913000-17937800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:17913000-17955800	Weak transcription	K562	blood
23	chr7:17916200-17942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:17918200-17948000	Weak transcription	GM12878-XiMat	blood
25	chr7:17918600-17936600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:17918600-17938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:17918800-17942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:17922800-17937800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:17923000-17940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:17923000-17942400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:17925400-17939800	Weak transcription	Fetal Stomach	stomach
32	chr7:17926200-17939800	Weak transcription	Fetal Intestine Small	intestine
33	chr7:17926200-17942400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:17926800-17941000	Weak transcription	Fetal Brain Female	brain
35	chr7:17927200-17939800	Weak transcription	Ovary	ovary
36	chr7:17927200-17944600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:17927200-17955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:17928200-17946800	Weak transcription	Hela-S3	cervix
39	chr7:17928400-17936800	Weak transcription	NH-A	brain
40	chr7:17929000-17937800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:17929200-17941000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:17929200-17942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:17929200-17951400	Weak transcription	Fetal Intestine Large	intestine
44	chr7:17929200-17952200	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:17929400-17943000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:17929800-17936400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:17929800-17937000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:17929800-17939800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:17929800-17939800	Weak transcription	Left Ventricle	heart
50	chr7:17929800-17939800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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