Variant report

Variant	rs67548673
Chromosome Location	chr7:96317985-96317986
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96312826..96314848-chr7:96317604..96319323,2	K562	blood:
2	chr7:96315685..96318974-chr7:96337467..96340692,3	MCF-7	breast:
3	chr7:96312536..96315104-chr7:96316373..96319043,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127922	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10226466	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234669	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10236162	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10242066	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10246774	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249910	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10252396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10259875	1.00[EUR][1000 genomes]
rs10270175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10273237	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276660	1.00[EUR][1000 genomes]
rs10278521	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1581538	0.95[EUR][1000 genomes]
rs1608739	0.95[EUR][1000 genomes]
rs17167680	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17167699	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17413240	0.93[EUR][1000 genomes]
rs17495340	0.86[EUR][1000 genomes]
rs1917482	0.95[EUR][1000 genomes]
rs2140741	0.95[EUR][1000 genomes]
rs2272	1.00[EUR][1000 genomes]
rs3942589	1.00[EUR][1000 genomes]
rs55902035	1.00[EUR][1000 genomes]
rs67368115	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67658953	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73228327	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73228328	0.95[EUR][1000 genomes]
rs73228329	0.95[EUR][1000 genomes]
rs73228347	1.00[EUR][1000 genomes]
rs73228355	1.00[EUR][1000 genomes]
rs73228356	1.00[EUR][1000 genomes]
rs73228360	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228364	0.93[EUR][1000 genomes]
rs7341440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952005	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	nsv888756	chr7:95937098-96343665	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
2	nsv532174	chr7:96221237-96375826	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv831065	chr7:96275832-96436031	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96284400-96320000	Weak transcription	Pancreas	Pancrea
2	chr7:96284400-96331200	Weak transcription	Lung	lung
3	chr7:96285600-96319800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:96292000-96320400	Weak transcription	HepG2	liver
5	chr7:96293600-96320600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:96294000-96331200	Weak transcription	Esophagus	oesophagus
7	chr7:96295200-96326000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:96295400-96320400	Weak transcription	Fetal Thymus	thymus
9	chr7:96295600-96323200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:96297000-96320600	Weak transcription	Fetal Intestine Large	intestine
11	chr7:96298200-96330600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:96298600-96320600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:96299000-96337400	Weak transcription	NHLF	lung
14	chr7:96299800-96320400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:96300000-96320400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:96300000-96320600	Weak transcription	NHDF-Ad	bronchial
17	chr7:96300000-96337600	Weak transcription	NH-A	brain
18	chr7:96300200-96319000	Weak transcription	Fetal Lung	lung
19	chr7:96300200-96337000	Weak transcription	Fetal Kidney	kidney
20	chr7:96300400-96320600	Weak transcription	K562	blood
21	chr7:96301200-96323800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:96301800-96325400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:96302200-96325400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:96302200-96337800	Weak transcription	Thymus	Thymus
25	chr7:96302400-96325400	Weak transcription	Brain Substantia Nigra	brain
26	chr7:96303200-96319200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr7:96303200-96320000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:96303200-96320000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:96303200-96337400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:96303200-96338000	Weak transcription	Aorta	Aorta
31	chr7:96303200-96338200	Weak transcription	Gastric	stomach
32	chr7:96305200-96330600	Weak transcription	Left Ventricle	heart
33	chr7:96305600-96324400	Weak transcription	Ovary	ovary
34	chr7:96306200-96323400	Weak transcription	HUVEC	blood vessel
35	chr7:96309200-96320400	Weak transcription	HSMMtube	muscle
36	chr7:96309200-96337200	Weak transcription	Brain Anterior Caudate	brain
37	chr7:96309400-96325600	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:96309400-96330400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:96309600-96337200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:96310600-96318600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:96311000-96338400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:96311400-96338000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:96312200-96337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:96313400-96338000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:96313800-96320000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:96314200-96337800	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:96314400-96320200	Weak transcription	Psoas Muscle	Psoas
48	chr7:96314800-96336200	Weak transcription	Fetal Brain Female	brain
49	chr7:96315000-96320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:96315600-96319600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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