Variant report

Variant	rs73075322
Chromosome Location	chr7:27846065-27846066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10249314	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1029604	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11761773	1.00[AFR][1000 genomes]
rs1468443	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2158892	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42090	0.80[AMR][1000 genomes]
rs42114	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4722731	0.95[EUR][1000 genomes]
rs4722736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4722738	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56070801	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60426718	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62454913	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs62456949	1.00[AFR][1000 genomes]
rs6462044	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6946582	1.00[AFR][1000 genomes]
rs6960451	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969516	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6970160	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075354	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075359	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075361	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73083352	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73083361	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73083363	0.89[AMR][1000 genomes]
rs73083364	0.89[AMR][1000 genomes]
rs73083371	0.89[AMR][1000 genomes]
rs73083377	0.89[AMR][1000 genomes]
rs73083378	0.89[AMR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
4	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
7	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
9	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
11	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
12	chr7:27820400-27847400	Weak transcription	Fetal Heart	heart
13	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
14	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:27825600-27848000	Weak transcription	NHLF	lung
16	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
20	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
21	chr7:27832600-27852800	Weak transcription	Lung	lung
22	chr7:27832600-27852800	Weak transcription	Thymus	Thymus
23	chr7:27832600-27856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:27832800-27853200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:27833000-27858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:27833600-27856000	Weak transcription	Brain Anterior Caudate	brain
27	chr7:27833600-27858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:27834200-27847800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:27834800-27848000	Weak transcription	HMEC	breast
31	chr7:27834800-27855600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:27835000-27856000	Weak transcription	GM12878-XiMat	blood
33	chr7:27835200-27848000	Weak transcription	NHEK	skin
34	chr7:27835200-27856000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:27835200-27857600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:27835200-27878200	Weak transcription	Gastric	stomach
37	chr7:27835800-27847600	Weak transcription	NH-A	brain
38	chr7:27836000-27847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:27836000-27847800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:27836000-27856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:27836200-27847600	Weak transcription	HSMMtube	muscle
42	chr7:27836200-27848000	Weak transcription	K562	blood
43	chr7:27836400-27856000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:27836400-27856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
46	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:27836600-27852600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:27836800-27851400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:27836800-27852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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