Variant report

Variant	rs12797791
Chromosome Location	chr11:72341377-72341378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72339617..72343114-chr11:72344003..72346053,4	K562	blood:
2	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
3	chr11:72340095..72342278-chr11:72348258..72351014,2	MCF-7	breast:
4	chr11:72321045..72323854-chr11:72340699..72343138,2	K562	blood:
5	chr11:72336037..72338838-chr11:72339942..72342746,4	K562	blood:
6	chr11:72340350..72342002-chr11:72346952..72349223,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10793036	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs11235551	0.86[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs11235556	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235557	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235558	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11235559	0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1135029	0.83[JPT][hapmap]
rs12146545	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12276767	0.89[ASN][1000 genomes]
rs12362256	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12363065	0.93[CHB][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12576058	0.93[CHB][hapmap]
rs12797368	0.86[CHB][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12804316	0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1391888	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1467135	0.83[JPT][hapmap]
rs163694	0.93[CHB][hapmap]
rs1872126	0.93[CHB][hapmap]
rs189332	0.93[CHB][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1980089	0.83[JPT][hapmap]
rs1980090	0.83[JPT][hapmap]
rs2035467	0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037030	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306609	0.85[CHB][hapmap]
rs341049	0.84[JPT][hapmap]
rs341051	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341053	0.93[CHB][hapmap]
rs341060	0.83[ASN][1000 genomes]
rs341061	0.92[CHB][hapmap];0.83[ASN][1000 genomes]
rs341062	0.82[ASN][1000 genomes]
rs341086	0.83[JPT][hapmap]
rs342322	0.84[ASN][1000 genomes]
rs3758934	0.81[EUR][1000 genomes]
rs3758935	0.81[EUR][1000 genomes]
rs3758936	0.81[EUR][1000 genomes]
rs3781913	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs3781916	0.93[CHB][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3781939	0.83[JPT][hapmap]
rs3825009	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs401801	0.86[ASN][1000 genomes]
rs455611	0.99[ASN][1000 genomes]
rs456405	0.84[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs458275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458575	0.85[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4943939	0.84[JPT][hapmap]
rs56133505	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895572	0.89[ASN][1000 genomes]
rs7105428	0.86[ASN][1000 genomes]
rs7119321	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900613	0.85[CHB][hapmap]
rs90409	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs907853	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907854	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907856	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907857	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs907858	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932074	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs932075	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72334200-72341600	Enhancers	Right Atrium	heart
2	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
3	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
4	chr11:72335600-72344600	Enhancers	Rectal Smooth Muscle	rectum
5	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:72335800-72342600	Enhancers	Fetal Muscle Trunk	muscle
7	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
8	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
9	chr11:72336000-72345000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:72336400-72343200	Enhancers	Brain Germinal Matrix	brain
12	chr11:72337400-72342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:72337400-72342800	Weak transcription	Pancreas	Pancrea
14	chr11:72337600-72342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:72337600-72343000	Weak transcription	Liver	Liver
16	chr11:72337800-72342400	Weak transcription	Fetal Heart	heart
17	chr11:72337800-72348200	Weak transcription	Gastric	stomach
18	chr11:72338200-72342400	Weak transcription	K562	blood
19	chr11:72338200-72342600	Weak transcription	Fetal Intestine Large	intestine
20	chr11:72338400-72342200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:72338400-72342600	Weak transcription	Colonic Mucosa	Colon
22	chr11:72338400-72342600	Weak transcription	HUVEC	blood vessel
23	chr11:72338400-72348200	Weak transcription	Ovary	ovary
24	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:72339200-72341400	Enhancers	Fetal Stomach	stomach
26	chr11:72339600-72342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:72339600-72345000	Genic enhancers	Spleen	Spleen
28	chr11:72339800-72345800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:72340200-72341400	Enhancers	HSMM	muscle
30	chr11:72340200-72344600	Enhancers	Psoas Muscle	Psoas
31	chr11:72340200-72345000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
34	chr11:72340600-72341400	Flanking Active TSS	HSMMtube	muscle
35	chr11:72340800-72341400	Genic enhancers	Adipose Nuclei	Adipose
36	chr11:72340800-72341400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr11:72341000-72341400	Genic enhancers	Right Ventricle	heart
38	chr11:72341000-72343400	Weak transcription	Fetal Intestine Small	intestine
39	chr11:72341200-72341400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr11:72341200-72341400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:72341200-72341600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:72341200-72341600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:72341200-72341600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:72341200-72342400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:72341200-72343400	Enhancers	Colon Smooth Muscle	Colon

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