Variant report

Variant	rs11804851
Chromosome Location	chr1:212996540-212996541
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212995878..212997398-chr17:41463374..41466194,3	K562	blood:
2	chr1:212995878..212997398-chr17:41380725..41383268,2	MCF-7	breast:
3	chr1:212995878..212997378-chr3:73159932..73161528,3	MCF-7	breast:
4	chr1:212995878..212997398-chr3:73159960..73162072,6	K562	blood:
5	chr1:212964912..212966461-chr1:212995791..212998620,2	K562	blood:
6	chr1:212995898..212997398-chr11:62607619..62609127,2	K562	blood:
7	chr1:212995898..212997398-chr11:62607627..62609133,2	K562	blood:
8	chr1:212995878..212997398-chr3:73160015..73162089,7	MCF-7	breast:
9	chr1:212995878..212997398-chr17:41380306..41382306,2	K562	blood:
10	chr1:212995878..212997378-chr17:41380658..41383497,3	K562	blood:
11	chr1:212995878..212997398-chr3:73160094..73162072,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11799556	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807916	1.00[AMR][1000 genomes]
rs17019640	1.00[AMR][1000 genomes]
rs17019657	1.00[AMR][1000 genomes]
rs17019749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17019770	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28505349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300963	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55787749	1.00[AMR][1000 genomes]
rs55827218	1.00[AMR][1000 genomes]
rs56012560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60334006	1.00[AMR][1000 genomes]
rs6684313	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs6685348	1.00[AMR][1000 genomes]
rs6700258	1.00[AMR][1000 genomes]
rs74138622	1.00[AMR][1000 genomes]
rs74138623	1.00[AMR][1000 genomes]
rs74138629	1.00[AMR][1000 genomes]
rs74138630	1.00[AMR][1000 genomes]
rs74138631	1.00[AMR][1000 genomes]
rs74138632	1.00[AMR][1000 genomes]
rs74138633	1.00[AMR][1000 genomes]
rs74138636	1.00[AMR][1000 genomes]
rs74138700	1.00[AMR][1000 genomes]
rs74140507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74141106	1.00[AMR][1000 genomes]
rs7511916	1.00[AMR][1000 genomes]
rs7523527	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551472	1.00[AMR][1000 genomes]
rs7551969	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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
2	chr1:212975800-212997800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:212976200-212998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:212988400-212998800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:212988600-212998400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212990800-212998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:212991000-212998800	Weak transcription	Stomach Mucosa	stomach
10	chr1:212994000-212999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:212995200-212997000	Enhancers	HepG2	liver
12	chr1:212995600-212997200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:212996200-212997400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:212996400-212996800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:212996400-212998600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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