Variant report

Variant	rs75371948
Chromosome Location	chr11:72336833-72336834
allele	A/G
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	chr11:72325202..72330805-chr11:72334238..72338443,6	K562	blood:
3	chr11:72334834..72339078-chr11:72340923..72346253,6	K562	blood:
4	chr11:72329305..72334052-chr11:72334284..72337478,5	K562	blood:
5	chr11:72335997..72337699-chr11:72363120..72365299,2	K562	blood:
6	chr11:72336037..72338838-chr11:72339942..72342746,4	K562	blood:

Variant related genes	Relation type
ENSG00000251919	Chromatin interaction
ENSG00000272036	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3441775	chr11:72333404-72337902	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	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:62 , 50 per page) page: 1 2

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	chr11:72335400-72337200	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:72335400-72337800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:72335400-72337800	Enhancers	Gastric	stomach
8	chr11:72335400-72338000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:72335400-72338000	Enhancers	Fetal Intestine Small	intestine
10	chr11:72335400-72338400	Enhancers	HUVEC	blood vessel
11	chr11:72335400-72340000	Enhancers	Fetal Brain Female	brain
12	chr11:72335400-72340200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:72335400-72341200	Enhancers	Brain Anterior Caudate	brain
14	chr11:72335400-72346600	Enhancers	Brain Angular Gyrus	brain
15	chr11:72335600-72337400	Enhancers	Pancreas	Pancrea
16	chr11:72335600-72338000	Enhancers	Stomach Mucosa	stomach
17	chr11:72335600-72338200	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:72335600-72338200	Enhancers	K562	blood
19	chr11:72335600-72338400	Enhancers	Fetal Lung	lung
20	chr11:72335600-72338800	Enhancers	Esophagus	oesophagus
21	chr11:72335600-72340800	Enhancers	Colon Smooth Muscle	Colon
22	chr11:72335600-72341000	Enhancers	Right Ventricle	heart
23	chr11:72335600-72341200	Enhancers	Brain Substantia Nigra	brain
24	chr11:72335600-72341200	Enhancers	Lung	lung
25	chr11:72335600-72344600	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:72335800-72337600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:72335800-72337800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:72335800-72338200	Enhancers	Fetal Intestine Large	intestine
30	chr11:72335800-72338200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr11:72335800-72338400	Enhancers	Colonic Mucosa	Colon
32	chr11:72335800-72342600	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
34	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
35	chr11:72336000-72337400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:72336000-72337600	Enhancers	Liver	Liver
37	chr11:72336000-72338000	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:72336000-72338000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr11:72336000-72338400	Enhancers	Fetal Stomach	stomach
40	chr11:72336000-72338400	Enhancers	Ovary	ovary
41	chr11:72336000-72345000	Enhancers	Fetal Muscle Leg	muscle
42	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:72336200-72337000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:72336200-72337200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:72336200-72337400	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr11:72336200-72337800	Enhancers	Fetal Heart	heart
47	chr11:72336200-72338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:72336200-72338800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:72336400-72337000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:72336400-72337400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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