Variant report

Variant	rs73721028
Chromosome Location	chr7:127539543-127539544
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127535349..127538608-chr7:127539437..127541786,4	MCF-7	breast:
2	chr7:127539496..127544017-chr7:127546415..127549727,4	MCF-7	breast:
3	chr7:127539523..127541289-chr7:127544674..127547671,2	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs55820323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56221924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56258700	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57918669	0.81[AFR][1000 genomes]
rs58102896	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58659499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60126795	0.82[AFR][1000 genomes]
rs60805384	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61165973	0.86[AFR][1000 genomes]
rs6951386	0.81[AFR][1000 genomes]
rs6951924	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6956777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6977011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721003	0.86[AFR][1000 genomes]
rs73721004	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721007	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721008	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721012	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721015	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721018	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721019	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721025	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721255	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721262	0.81[AFR][1000 genomes]
rs73721265	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721267	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721270	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721272	1.00[AMR][1000 genomes]
rs73721274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73723043	0.81[AFR][1000 genomes]
rs73723044	0.81[AFR][1000 genomes]
rs73723056	0.81[AFR][1000 genomes]
rs73723057	0.81[AFR][1000 genomes]
rs73723058	0.81[AFR][1000 genomes]
rs73723059	0.81[AFR][1000 genomes]
rs73723060	0.81[AFR][1000 genomes]
rs73723061	0.86[AFR][1000 genomes]
rs73723062	0.86[AFR][1000 genomes]
rs73723063	0.86[AFR][1000 genomes]
rs73723064	0.86[AFR][1000 genomes]
rs73723067	0.86[AFR][1000 genomes]
rs73723068	0.82[AFR][1000 genomes]
rs73723070	0.86[AFR][1000 genomes]
rs73723071	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
2	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
8	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:127527200-127540400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:127528800-127540400	Weak transcription	Colonic Mucosa	Colon
12	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:127529000-127540200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
15	chr7:127529200-127540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:127529200-127540400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:127529200-127540800	Weak transcription	Spleen	Spleen
18	chr7:127529200-127544600	Weak transcription	Thymus	Thymus
19	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
20	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
22	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:127529400-127542200	Weak transcription	Fetal Heart	heart
24	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:127530800-127540400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:127531200-127540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:127531600-127540400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:127531800-127542000	Weak transcription	Fetal Kidney	kidney
29	chr7:127532200-127540000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
31	chr7:127532400-127539600	Weak transcription	Aorta	Aorta
32	chr7:127532400-127540600	Weak transcription	Fetal Muscle Leg	muscle
33	chr7:127532400-127540600	Weak transcription	Gastric	stomach
34	chr7:127532400-127547400	Weak transcription	A549	lung
35	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:127532600-127540000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:127532600-127541000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:127532600-127541200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:127532800-127539800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:127532800-127539800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:127532800-127540400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:127532800-127540400	Weak transcription	Placenta	Placenta
44	chr7:127532800-127540800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:127532800-127541000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:127532800-127541600	Weak transcription	Dnd41	blood
47	chr7:127532800-127544800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:127532800-127545600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:127533000-127540600	Weak transcription	Liver	Liver
50	chr7:127533000-127540800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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