Variant report

Variant	rs547579093
Chromosome Location	chr7:150496969-150496970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr7:150496901-150497108	H1-hESC	embryonic stem cell:	n/a	chr7:150496941-150496961 chr7:150496947-150496956

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150490163..150495069-chr7:150496481..150500897,6	K562	blood:

Variant related genes	Relation type
TMEM176B	TF binding region
TMEM176A	TF binding region
ENSG00000106565	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv3422811	chr7:150496544-150499392	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150494600-150498800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:150495000-150498000	Active TSS	Duodenum Mucosa	Duodenum
3	chr7:150495000-150499200	Active TSS	Liver	Liver
4	chr7:150495800-150497600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
5	chr7:150495800-150499400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr7:150496000-150498000	Bivalent/Poised TSS	Fetal Stomach	stomach
7	chr7:150496000-150498000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
8	chr7:150496200-150497000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:150496200-150497000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:150496200-150497200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
11	chr7:150496200-150497200	Active TSS	Colonic Mucosa	Colon
12	chr7:150496200-150497400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr7:150496200-150497600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr7:150496200-150498800	Active TSS	Brain Anterior Caudate	brain
15	chr7:150496200-150499000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:150496200-150499600	Active TSS	Rectal Smooth Muscle	rectum
17	chr7:150496400-150497000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr7:150496400-150497000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr7:150496400-150497400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr7:150496400-150497400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
21	chr7:150496400-150498800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
22	chr7:150496400-150498800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr7:150496400-150498800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:150496400-150499000	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr7:150496600-150497000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:150496600-150497000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:150496600-150497000	Bivalent/Poised TSS	Esophagus	oesophagus
28	chr7:150496600-150497000	Enhancers	Lung	lung
29	chr7:150496600-150497000	Active TSS	Right Ventricle	heart
30	chr7:150496600-150497200	Bivalent/Poised TSS	Placenta	Placenta
31	chr7:150496600-150497200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:150496600-150497400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr7:150496600-150497400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr7:150496600-150498000	Bivalent/Poised TSS	Thymus	Thymus
35	chr7:150496600-150498400	Active TSS	Fetal Intestine Small	intestine
36	chr7:150496600-150498400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:150496600-150498600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:150496600-150498600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:150496600-150498600	Active TSS	Right Atrium	heart
40	chr7:150496600-150498600	Bivalent/Poised TSS	Small Intestine	intestine
41	chr7:150496600-150498800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:150496600-150498800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
43	chr7:150496600-150498800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
44	chr7:150496600-150498800	Active TSS	Gastric	stomach
45	chr7:150496600-150499000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr7:150496800-150497000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:150496800-150497000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:150496800-150497000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr7:150496800-150497000	Flanking Active TSS	Left Ventricle	heart
50	chr7:150496800-150497000	Active TSS	Pancreas	Pancrea

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