Variant report

Variant	rs537871944
Chromosome Location	chr2:178481344-178481345
allele	-/AAATAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178480859..178483355-chr2:178499342..178501117,2	K562	blood:
2	chr2:178406620..178408509-chr2:178480094..178481704,2	K562	blood:
3	chr2:178479040..178481545-chr2:178589525..178591056,2	K562	blood:
4	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:

Variant related genes	Relation type
ENSG00000196659	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv583689	chr2:178468008-178509820	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	esv1815823	chr2:178479149-178489902	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv961914	chr2:178481282-178483895	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178462800-178482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:178464200-178482600	Weak transcription	Psoas Muscle	Psoas
3	chr2:178464200-178482600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:178464600-178482400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:178468400-178482800	Weak transcription	Fetal Brain Male	brain
6	chr2:178471800-178482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:178476400-178482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:178476800-178482600	Weak transcription	HepG2	liver
9	chr2:178477400-178482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:178477600-178482600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:178477800-178482400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:178477800-178482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:178477800-178482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:178479600-178482600	Weak transcription	HSMM	muscle
15	chr2:178480000-178482600	Weak transcription	K562	blood
16	chr2:178480000-178482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:178480800-178481800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:178481000-178481400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:178481000-178481400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr2:178481000-178481400	Active TSS	Fetal Lung	lung
21	chr2:178481000-178481600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:178481000-178481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:178481000-178481600	ZNF genes & repeats	Fetal Kidney	kidney
24	chr2:178481200-178481400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:178481200-178482200	Weak transcription	Right Ventricle	heart
26	chr2:178481200-178482600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:178481200-178482600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:178481200-178482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:178481200-178482600	Weak transcription	Left Ventricle	heart
30	chr2:178481200-178482600	Weak transcription	Ovary	ovary
31	chr2:178481200-178482600	Weak transcription	Pancreas	Pancrea
32	chr2:178481200-178482600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:178481200-178482600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:178481200-178482800	Weak transcription	Gastric	stomach
35	chr2:178481200-178482800	Weak transcription	Right Atrium	heart
36	chr2:178481200-178482800	Weak transcription	GM12878-XiMat	blood

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