Variant report

Variant	rs73075361
Chromosome Location	chr7:27873195-27873196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10249314	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1029604	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1468443	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2158892	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs42114	1.00[AFR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4722731	0.87[EUR][1000 genomes]
rs4722736	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4722738	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56070801	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60426718	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes]
rs62454913	1.00[AFR][1000 genomes]
rs6462044	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6960451	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6969516	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6970160	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075310	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075322	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075354	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075359	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73083352	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73083361	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73083363	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73083364	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73083371	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73083377	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73083378	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
3	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
5	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
6	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
7	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
10	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
11	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:27835200-27878200	Weak transcription	Gastric	stomach
13	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
16	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix
17	chr7:27842400-27877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:27843600-27877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:27848400-27873400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:27849200-27873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:27854200-27882200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:27856000-27882200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:27856600-27874000	Weak transcription	Fetal Stomach	stomach
26	chr7:27856800-27873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:27856800-27874000	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:27856800-27874200	Weak transcription	GM12878-XiMat	blood
29	chr7:27857200-27875600	Weak transcription	NHEK	skin
30	chr7:27857200-27877800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:27858200-27882600	Weak transcription	Esophagus	oesophagus
32	chr7:27858400-27873400	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:27858400-27879600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:27858600-27880000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:27858800-27879800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:27858800-27880200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:27859200-27876000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:27859800-27879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:27860000-27881800	Weak transcription	Colonic Mucosa	Colon
40	chr7:27861400-27880800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr7:27861800-27877400	Weak transcription	Stomach Mucosa	stomach
42	chr7:27862000-27881000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:27863000-27874400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr7:27863400-27876600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:27863600-27874400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:27865400-27879000	Weak transcription	Fetal Brain Female	brain
47	chr7:27866000-27884600	Strong transcription	Primary B cells from cord blood	blood
48	chr7:27866200-27873400	Weak transcription	Fetal Heart	heart
49	chr7:27866200-27873800	Weak transcription	Ovary	ovary
50	chr7:27866200-27882200	Weak transcription	NHLF	lung

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