Variant report

Variant	rs28482805
Chromosome Location	chr7:102723513-102723514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr7:102723371-102723555	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:102723476-102723579	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102720886..102723558-chr7:102788067..102789895,2	K562	blood:
2	chr7:102718865..102720397-chr7:102721163..102723713,2	K562	blood:
3	chr7:102722298..102724318-chr7:102734038..102736793,2	K562	blood:
4	chr7:102722671..102724592-chr7:102744274..102746459,2	MCF-7	breast:
5	chr7:102721956..102723708-chr7:102729468..102731654,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARMC10	TF binding region
ENSG00000233025	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000170632	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10046531	1.00[AMR][1000 genomes]
rs10225811	0.89[AFR][1000 genomes]
rs10241815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241926	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242506	0.84[AFR][1000 genomes]
rs10243055	1.00[AMR][1000 genomes]
rs10245037	1.00[AMR][1000 genomes]
rs10246237	1.00[AMR][1000 genomes]
rs10252006	1.00[AMR][1000 genomes]
rs10255884	1.00[AMR][1000 genomes]
rs10259126	1.00[AMR][1000 genomes]
rs10260888	0.84[AFR][1000 genomes]
rs10271644	1.00[AMR][1000 genomes]
rs10277828	0.89[AFR][1000 genomes]
rs10279752	1.00[AMR][1000 genomes]
rs10279918	1.00[AMR][1000 genomes]
rs10282582	0.84[AFR][1000 genomes]
rs10441305	1.00[AMR][1000 genomes]
rs28399298	1.00[AMR][1000 genomes]
rs28452903	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28894762	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4480048	1.00[AMR][1000 genomes]
rs4612274	1.00[AMR][1000 genomes]
rs56703102	1.00[AMR][1000 genomes]
rs58192762	1.00[AMR][1000 genomes]
rs58593428	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58612464	0.84[AFR][1000 genomes]
rs6944594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951111	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7794374	1.00[AMR][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	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102716400-102723600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:102716400-102734000	Weak transcription	Esophagus	oesophagus
3	chr7:102716400-102745400	Weak transcription	Spleen	Spleen
4	chr7:102716600-102723600	Weak transcription	Placenta	Placenta
5	chr7:102716600-102724600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:102716600-102725000	Weak transcription	Left Ventricle	heart
7	chr7:102716600-102725000	Weak transcription	Ovary	ovary
8	chr7:102716600-102725400	Weak transcription	Aorta	Aorta
9	chr7:102716600-102735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:102716600-102737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
14	chr7:102716600-102760200	Weak transcription	Lung	lung
15	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
16	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
17	chr7:102716800-102723800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:102716800-102724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:102716800-102724600	Weak transcription	NHDF-Ad	bronchial
20	chr7:102716800-102725000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:102716800-102726400	Weak transcription	HSMMtube	muscle
22	chr7:102716800-102753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:102716800-102768400	Weak transcription	Stomach Mucosa	stomach
24	chr7:102717000-102723600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:102717000-102723600	Weak transcription	A549	lung
26	chr7:102717000-102724000	Weak transcription	Primary T cells from cord blood	blood
27	chr7:102717000-102724000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:102717000-102724000	Weak transcription	Osteobl	bone
29	chr7:102717000-102724200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:102717000-102724200	Weak transcription	Fetal Kidney	kidney
31	chr7:102717000-102724200	Weak transcription	HUVEC	blood vessel
32	chr7:102717000-102724400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:102717000-102724400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:102717000-102724600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:102717000-102724600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:102717000-102725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:102717000-102725000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:102717000-102725400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:102717000-102727400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:102717000-102729400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:102717000-102729600	Weak transcription	Brain Germinal Matrix	brain
42	chr7:102717000-102729600	Weak transcription	NHLF	lung
43	chr7:102717000-102746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:102717000-102746800	Weak transcription	Fetal Heart	heart
45	chr7:102717200-102724000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:102717200-102724400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:102717200-102724400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:102717200-102725200	Weak transcription	Thymus	Thymus
49	chr7:102717400-102724400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:102717600-102723600	Weak transcription	Fetal Intestine Large	intestine

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