Variant report

Variant	rs553431636
Chromosome Location	chr4:56266527-56266528
allele	-/TAAT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56266067..56267699-chr4:56271922..56273908,2	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
4	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
5	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:
6	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251111	Chromatin interaction
ENSG00000128039	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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3513387	chr4:56265445-56270643	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3513386	chr4:56265495-56269293	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3513388	chr4:56265495-56269293	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv20248	chr4:56266121-56267944	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3388357	chr4:56266378-56266534	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56264200-56267400	Enhancers	Small Intestine	intestine
2	chr4:56264200-56269800	Weak transcription	Spleen	Spleen
3	chr4:56264200-56270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:56264200-56273000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:56264600-56266800	Weak transcription	Placenta	Placenta
6	chr4:56264600-56270000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:56264800-56269800	Weak transcription	Fetal Kidney	kidney
8	chr4:56264800-56282200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:56264800-56292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:56265000-56266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:56265000-56267000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:56265000-56273200	Weak transcription	Gastric	stomach
13	chr4:56265400-56273400	Weak transcription	Aorta	Aorta
14	chr4:56265600-56266800	Strong transcription	Fetal Intestine Small	intestine
15	chr4:56265600-56266800	Strong transcription	Fetal Stomach	stomach
16	chr4:56265600-56267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:56265600-56267000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:56265600-56267200	Weak transcription	HepG2	liver
19	chr4:56265600-56268200	Strong transcription	HSMM	muscle
20	chr4:56265600-56269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:56265600-56269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:56265600-56269200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:56265600-56269200	Weak transcription	HSMMtube	muscle
24	chr4:56265600-56269800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:56265600-56269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:56265600-56269800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:56265600-56269800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:56265600-56269800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr4:56265600-56270200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:56265600-56270200	Weak transcription	Lung	lung
31	chr4:56265600-56270200	Weak transcription	Thymus	Thymus
32	chr4:56265600-56271400	Weak transcription	Psoas Muscle	Psoas
33	chr4:56265600-56271800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:56265600-56272000	Weak transcription	Esophagus	oesophagus
35	chr4:56265600-56272200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:56265600-56273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:56265600-56273800	Weak transcription	Stomach Mucosa	stomach
38	chr4:56265600-56275600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:56265600-56281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:56265600-56283800	Weak transcription	Fetal Brain Male	brain
41	chr4:56265600-56286000	Weak transcription	Colonic Mucosa	Colon
42	chr4:56265600-56289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:56265800-56266600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:56265800-56266800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:56265800-56267000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:56265800-56267000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:56265800-56267000	Weak transcription	Adipose Nuclei	Adipose
49	chr4:56265800-56267000	Weak transcription	Liver	Liver
50	chr4:56265800-56267000	Weak transcription	Duodenum Mucosa	Duodenum

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