Variant report

Variant	rs6749952
Chromosome Location	chr2:20298455-20298456
allele	A/C
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20214958..20215898-chr2:20297637..20298521,4	K562	blood:
2	chr2:20100345..20103243-chr2:20296732..20299128,2	MCF-7	breast:
3	chr2:20154421..20157278-chr2:20295987..20298973,3	MCF-7	breast:
4	chr2:20157779..20158423-chr2:20297722..20298509,2	MCF-7	breast:
5	chr2:20154448..20157008-chr2:20296736..20298879,2	MCF-7	breast:
6	chr2:20296833..20299152-chr2:20423659..20425384,3	MCF-7	breast:
7	chr2:20210274..20217508-chr2:20292118..20299922,13	MCF-7	breast:
8	chr2:20250411..20253613-chr2:20297643..20299802,4	MCF-7	breast:
9	chr2:20269147..20275842-chr2:20291951..20298996,12	MCF-7	breast:
10	chr2:20155317..20156277-chr2:20297540..20298567,10	MCF-7	breast:
11	chr2:20154616..20156310-chr2:20297424..20298664,25	K562	blood:
12	chr2:20157736..20158369-chr2:20297628..20298583,2	K562	blood:
13	chr2:20280896..20282415-chr2:20296609..20299521,2	K562	blood:
14	chr2:20292117..20294039-chr2:20297489..20300259,2	MCF-7	breast:
15	chr2:20213367..20215755-chr2:20296083..20298973,4	MCF-7	breast:
16	chr2:20297655..20298611-chr2:20490488..20491367,2	MCF-7	breast:
17	chr2:20155231..20156341-chr2:20297460..20298639,28	MCF-7	breast:
18	chr2:20297994..20299796-chr2:20406757..20408699,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132031	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000068697	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10169811	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171384	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10195803	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10199614	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207632	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10208355	0.88[EUR][1000 genomes]
rs1028054	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1028055	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096639	0.84[EUR][1000 genomes]
rs11673841	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11677683	0.82[EUR][1000 genomes]
rs11679737	0.82[EUR][1000 genomes]
rs11682837	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11685443	0.82[EUR][1000 genomes]
rs11689490	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11690530	0.82[EUR][1000 genomes]
rs11692546	0.82[EUR][1000 genomes]
rs11900576	0.87[EUR][1000 genomes]
rs12998930	0.84[EUR][1000 genomes]
rs13005386	0.85[EUR][1000 genomes]
rs13391566	0.88[EUR][1000 genomes]
rs1554007	0.82[EUR][1000 genomes]
rs34694787	0.85[EUR][1000 genomes]
rs55971461	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112180	0.86[EUR][1000 genomes]
rs6531203	0.91[EUR][1000 genomes]
rs6531204	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6531205	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6531206	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531207	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708655	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6709349	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6719494	0.86[EUR][1000 genomes]
rs7556745	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558628	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561381	0.91[EUR][1000 genomes]
rs7572608	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582437	0.88[EUR][1000 genomes]
rs7583420	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609013	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878983	0.82[EUR][1000 genomes]
rs907864	0.84[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6749952	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20291000-20300000	Weak transcription	Right Atrium	heart
2	chr2:20292000-20300400	Weak transcription	HUVEC	blood vessel
3	chr2:20293600-20304200	Weak transcription	Stomach Mucosa	stomach
4	chr2:20294000-20304400	Weak transcription	Pancreas	Pancrea
5	chr2:20294400-20300200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:20298000-20299600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:20298000-20299600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:20298000-20299600	Weak transcription	Placenta	Placenta
9	chr2:20298000-20303000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:20298400-20299800	Weak transcription	HepG2	liver
11	chr2:20298400-20307800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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