Variant report

Variant	rs11802718
Chromosome Location	chr1:61730173-61730174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61716395..61718600-chr1:61728378..61730770,2	K562	blood:
2	chr1:61728304..61732793-chr1:61733623..61738337,5	K562	blood:
3	chr1:61716395..61718600-chr1:61728241..61730770,3	K562	blood:
4	chr1:61718700..61721096-chr1:61729687..61732144,3	K562	blood:

Variant related genes	Relation type
ENSG00000237853	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs72911904	0.84[AFR][1000 genomes]
rs72911905	0.84[AFR][1000 genomes]
rs72911907	0.84[AFR][1000 genomes]
rs72911909	0.89[AFR][1000 genomes]
rs72929861	0.89[AFR][1000 genomes]
rs72929865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929875	1.00[AFR][1000 genomes]
rs72929877	1.00[AFR][1000 genomes]
rs72929880	1.00[AFR][1000 genomes]
rs9988512	0.89[AFR][1000 genomes]
rs9988610	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61719400-61737200	Weak transcription	Esophagus	oesophagus
2	chr1:61720800-61755800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:61721000-61732200	Weak transcription	Aorta	Aorta
4	chr1:61721000-61732800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:61721000-61754400	Weak transcription	Pancreas	Pancrea
6	chr1:61721800-61731000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:61721800-61732200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:61721800-61734400	Weak transcription	Small Intestine	intestine
9	chr1:61722800-61740600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:61725800-61750400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:61726000-61733400	Weak transcription	Brain Germinal Matrix	brain
12	chr1:61726000-61734000	Weak transcription	Left Ventricle	heart
13	chr1:61726000-61742800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:61726000-61743200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:61726200-61733800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:61726200-61734400	Weak transcription	Ovary	ovary
17	chr1:61727200-61737400	Enhancers	HepG2	liver
18	chr1:61727600-61732400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:61727600-61732600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:61727600-61733400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:61727600-61734400	Weak transcription	Fetal Stomach	stomach
22	chr1:61727800-61733400	Weak transcription	Liver	Liver
23	chr1:61727800-61734400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:61728000-61730600	Weak transcription	Fetal Brain Male	brain
25	chr1:61728000-61734200	Weak transcription	Fetal Lung	lung
26	chr1:61728000-61740600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:61728200-61733200	Weak transcription	Brain Anterior Caudate	brain
28	chr1:61728400-61733800	Weak transcription	Adipose Nuclei	Adipose
29	chr1:61728600-61733200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:61728600-61733400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:61728800-61731600	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:61729000-61730400	Weak transcription	Fetal Heart	heart
33	chr1:61729200-61732400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:61729200-61732600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:61729200-61733800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:61729200-61742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:61729400-61733400	Weak transcription	Fetal Brain Female	brain
38	chr1:61729400-61734400	Weak transcription	Right Atrium	heart
39	chr1:61729600-61733400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:61729600-61734400	Weak transcription	Psoas Muscle	Psoas
41	chr1:61729600-61754400	Weak transcription	Lung	lung
42	chr1:61730000-61730400	Active TSS	K562	blood

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