Variant report

Variant	rs2736278
Chromosome Location	chr8:11219781-11219782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11212238..11213947-chr8:11218852..11221758,2	MCF-7	breast:
2	chr8:11219674..11222977-chr8:11226282..11228003,4	MCF-7	breast:
3	chr8:11218476..11220050-chr8:11220905..11223351,2	K562	blood:

Variant related genes	Relation type
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1047950	0.86[AMR][1000 genomes]
rs11250130	0.85[EUR][1000 genomes]
rs11777746	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11781637	0.85[EUR][1000 genomes]
rs11782430	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547100	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12550129	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13260727	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13268126	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274106	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1435274	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1435275	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1435277	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1865521	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2043508	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2246606	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249804	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250028	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2263511	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2263512	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2409756	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2437152	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572371	0.80[EUR][1000 genomes]
rs2572379	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572380	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572382	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2572385	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2572386	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572387	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2572389	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2572394	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572395	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572399	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572400	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572404	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2572440	0.83[AMR][1000 genomes]
rs2572450	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736264	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2736265	0.81[AMR][1000 genomes]
rs2736270	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2736273	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2736280	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2736285	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736288	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736290	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736292	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2736293	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736294	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736295	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736296	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736297	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736298	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736300	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736302	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2736303	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2736304	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2898272	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34389419	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34482136	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34964435	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009431	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35418978	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4363158	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448232	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4631424	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841524	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55758514	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222425	0.91[ASN][1000 genomes]
rs57629785	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601582	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6601584	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601585	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6980481	0.82[ASN][1000 genomes]
rs7816606	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7821302	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7821459	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7828263	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7834572	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7839307	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs920044	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS 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	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2736278	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2736278	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11206200-11225000	Weak transcription	Psoas Muscle	Psoas
2	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain
3	chr8:11207200-11223600	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:11208000-11222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11210000-11224000	Weak transcription	Brain Angular Gyrus	brain
6	chr8:11212800-11223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:11214600-11221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:11216000-11227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:11216800-11222200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:11218000-11224000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:11218000-11237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11218200-11220200	Enhancers	Stomach Mucosa	stomach
13	chr8:11218200-11220800	Weak transcription	K562	blood
14	chr8:11218200-11221400	Weak transcription	Gastric	stomach
15	chr8:11218800-11219800	Enhancers	Fetal Intestine Small	intestine
16	chr8:11218800-11220200	Enhancers	Fetal Intestine Large	intestine
17	chr8:11219000-11219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:11219000-11219800	Enhancers	NHEK	skin
19	chr8:11219000-11220200	Flanking Active TSS	A549	lung
20	chr8:11219200-11219800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:11219200-11220000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:11219400-11220200	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:11219400-11221600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:11219600-11219800	Genic enhancers	Pancreas	Pancrea
25	chr8:11219600-11220200	Enhancers	HepG2	liver
26	chr8:11219600-11222800	Weak transcription	HMEC	breast

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