Variant report

Variant	rs542735420
Chromosome Location	chr7:150497473-150497474
allele	G/T
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	SUZ12	chr7:150497149-150497686	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
TMEM176A	TF binding region
TMEM176B	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:89 , 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	chr7:150496200-150497600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
9	chr7:150496200-150498800	Active TSS	Brain Anterior Caudate	brain
10	chr7:150496200-150499000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr7:150496200-150499600	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:150496400-150498800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
13	chr7:150496400-150498800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr7:150496400-150498800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:150496400-150499000	Bivalent/Poised TSS	Fetal Kidney	kidney
16	chr7:150496600-150498000	Bivalent/Poised TSS	Thymus	Thymus
17	chr7:150496600-150498400	Active TSS	Fetal Intestine Small	intestine
18	chr7:150496600-150498400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr7:150496600-150498600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:150496600-150498600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:150496600-150498600	Active TSS	Right Atrium	heart
22	chr7:150496600-150498600	Bivalent/Poised TSS	Small Intestine	intestine
23	chr7:150496600-150498800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:150496600-150498800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
25	chr7:150496600-150498800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr7:150496600-150498800	Active TSS	Gastric	stomach
27	chr7:150496600-150499000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr7:150496800-150497600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:150496800-150498400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr7:150496800-150498400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:150496800-150498400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr7:150496800-150498600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:150496800-150498800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:150496800-150499000	Active TSS	Ovary	ovary
35	chr7:150497000-150497800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr7:150497000-150497800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr7:150497000-150498000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:150497000-150498000	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr7:150497000-150498000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:150497000-150498000	Active TSS	Left Ventricle	heart
41	chr7:150497000-150498200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr7:150497000-150498200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
43	chr7:150497000-150498400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150497000-150498600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr7:150497000-150498600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:150497000-150498600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:150497000-150498600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr7:150497000-150498600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr7:150497000-150498800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:150497000-150498800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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