Variant report

Variant	rs7792118
Chromosome Location	chr7:8018481-8018482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:8018325-8020900	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:8016682..8018691-chr7:8023208..8025599,2	MCF-7	breast:
2	chr7:8016338..8018811-chr7:8026553..8029436,2	MCF-7	breast:
3	chr7:8018316..8019921-chr7:8030363..8032239,2	K562	blood:
4	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
5	chr7:8007277..8011687-chr7:8017849..8023164,7	MCF-7	breast:
6	chr7:8018021..8019706-chr7:8020925..8023416,2	K562	blood:
7	chr7:8017218..8019521-chr7:8021916..8024291,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233264	TF binding region
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs56747980	1.00[AMR][1000 genomes]
rs59003138	1.00[EUR][1000 genomes]
rs59588512	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60275081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61341359	0.87[AMR][1000 genomes]
rs6463757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951578	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6956039	0.82[ASW][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6962721	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6969971	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242021	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242034	1.00[AMR][1000 genomes]
rs73242046	1.00[AMR][1000 genomes]
rs73242049	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73242080	0.87[AMR][1000 genomes]
rs73242082	0.87[AMR][1000 genomes]
rs73242085	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73242187	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73242194	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73674754	1.00[EUR][1000 genomes]
rs7784884	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7792831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7793288	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7797521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7798132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7799954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7799990	0.87[AMR][1000 genomes]
rs7800279	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808790	1.00[AMR][1000 genomes]
rs7811561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8010800-8023600	Weak transcription	Psoas Muscle	Psoas
2	chr7:8011400-8023600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:8012000-8018600	Weak transcription	Adipose Nuclei	Adipose
4	chr7:8012000-8018800	Weak transcription	Fetal Lung	lung
5	chr7:8012000-8020000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:8012200-8020600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:8012800-8019200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:8012800-8019600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:8012800-8021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:8013400-8029000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:8013400-8029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:8014000-8019600	Enhancers	Primary T cells from cord blood	blood
13	chr7:8014200-8028600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:8015000-8045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:8015200-8031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:8015800-8023200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:8016600-8019600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:8016600-8019600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:8016600-8023800	Weak transcription	Small Intestine	intestine
20	chr7:8016600-8026800	Weak transcription	Thymus	Thymus
21	chr7:8016600-8027200	Weak transcription	Fetal Thymus	thymus
22	chr7:8017000-8020400	Enhancers	Fetal Heart	heart
23	chr7:8017000-8020800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr7:8017200-8020000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:8017400-8020400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr7:8017600-8018600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:8017600-8018800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:8017600-8019600	Enhancers	Liver	Liver
29	chr7:8017600-8019600	Weak transcription	Left Ventricle	heart
30	chr7:8017600-8024600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:8017800-8018600	Weak transcription	K562	blood
32	chr7:8017800-8018800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:8017800-8018800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:8017800-8019200	Weak transcription	Brain Germinal Matrix	brain
35	chr7:8017800-8019400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:8017800-8021000	Weak transcription	Fetal Stomach	stomach
37	chr7:8017800-8021200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr7:8017800-8023800	Weak transcription	Aorta	Aorta
39	chr7:8017800-8029000	Weak transcription	Hela-S3	cervix
40	chr7:8017800-8029600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:8017800-8029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:8018000-8018800	Weak transcription	Osteobl	bone
43	chr7:8018000-8020000	Weak transcription	Dnd41	blood
44	chr7:8018000-8029000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:8018200-8018600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:8018400-8019000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:8018400-8019000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:8018400-8019000	Enhancers	Rectal Smooth Muscle	rectum
49	chr7:8018400-8019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:8018400-8019600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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