Variant report

Variant	rs12099061
Chromosome Location	chr11:72338427-72338428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72324405..72326702-chr11:72335643..72338443,2	K562	blood:
2	chr11:72321761..72324145-chr11:72337508..72339149,2	K562	blood:
3	chr11:72332869..72335160-chr11:72338112..72340780,2	K562	blood:
4	chr11:72325202..72330805-chr11:72334238..72338443,6	K562	blood:
5	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
6	chr11:72338376..72339958-chr11:72347160..72349591,2	K562	blood:
7	chr11:72336037..72338838-chr11:72339942..72342746,4	K562	blood:

Variant related genes	Relation type
ENSG00000272036	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1513779	1.00[AFR][1000 genomes]
rs7924891	1.00[AFR][1000 genomes]
rs7926573	1.00[AFR][1000 genomes]
rs7935955	1.00[AFR][1000 genomes]
rs7941968	1.00[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	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72331400-72341200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:72334200-72341600	Enhancers	Right Atrium	heart
3	chr11:72334400-72338800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
5	chr11:72335400-72340000	Enhancers	Fetal Brain Female	brain
6	chr11:72335400-72340200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr11:72335400-72341200	Enhancers	Brain Anterior Caudate	brain
8	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
9	chr11:72335600-72338800	Enhancers	Esophagus	oesophagus
10	chr11:72335600-72340800	Enhancers	Colon Smooth Muscle	Colon
11	chr11:72335600-72341000	Enhancers	Right Ventricle	heart
12	chr11:72335600-72341200	Enhancers	Brain Substantia Nigra	brain
13	chr11:72335600-72341200	Enhancers	Lung	lung
14	chr11:72335600-72344600	Enhancers	Rectal Smooth Muscle	rectum
15	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr11:72335800-72342600	Enhancers	Fetal Muscle Trunk	muscle
17	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
18	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
19	chr11:72336000-72345000	Enhancers	Fetal Muscle Leg	muscle
20	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:72336200-72338800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr11:72336400-72339600	Enhancers	Spleen	Spleen
23	chr11:72336400-72343200	Enhancers	Brain Germinal Matrix	brain
24	chr11:72336800-72339200	Enhancers	Adipose Nuclei	Adipose
25	chr11:72337200-72339200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:72337400-72338800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:72337400-72339000	Enhancers	Psoas Muscle	Psoas
28	chr11:72337400-72342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:72337400-72342800	Weak transcription	Pancreas	Pancrea
30	chr11:72337600-72342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:72337600-72343000	Weak transcription	Liver	Liver
32	chr11:72337800-72339000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:72337800-72340200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:72337800-72342400	Weak transcription	Fetal Heart	heart
35	chr11:72337800-72348200	Weak transcription	Gastric	stomach
36	chr11:72338000-72338600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:72338000-72338600	Enhancers	Stomach Smooth Muscle	stomach
38	chr11:72338000-72338800	Weak transcription	Stomach Mucosa	stomach
39	chr11:72338000-72339800	Weak transcription	Fetal Intestine Small	intestine
40	chr11:72338000-72340200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:72338200-72339000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr11:72338200-72341200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:72338200-72342400	Weak transcription	K562	blood
44	chr11:72338200-72342600	Weak transcription	Fetal Intestine Large	intestine
45	chr11:72338400-72339200	Genic enhancers	Fetal Stomach	stomach
46	chr11:72338400-72340000	Weak transcription	Placenta	Placenta
47	chr11:72338400-72342200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:72338400-72342600	Weak transcription	Colonic Mucosa	Colon
49	chr11:72338400-72342600	Weak transcription	HUVEC	blood vessel
50	chr11:72338400-72348200	Weak transcription	Ovary	ovary

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