Variant report

Variant	rs73816271
Chromosome Location	chr4:56275220-56275221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:56275149-56275223	ProgFib	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56266974..56269917-chr4:56274406..56277195,2	MCF-7	breast:
2	chr4:56272858..56275843-chr4:56602241..56604494,2	K562	blood:
3	chr4:56274229..56276308-chr4:56282213..56284888,2	MCF-7	breast:
4	chr4:56212034..56214727-chr4:56273890..56277792,4	MCF-7	breast:
5	chr4:56269741..56272367-chr4:56273938..56276057,3	MCF-7	breast:
6	chr4:56211324..56213872-chr4:56274081..56277036,2	K562	blood:
7	chr4:56273385..56275386-chr4:56294557..56296512,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239040	TF binding region
ENSG00000134851	Chromatin interaction
ENSG00000128039	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1047343	1.00[AMR][1000 genomes]
rs10517345	1.00[AMR][1000 genomes]
rs1552522	1.00[AMR][1000 genomes]
rs17085783	1.00[AMR][1000 genomes]
rs17085803	1.00[AMR][1000 genomes]
rs17085857	1.00[AMR][1000 genomes]
rs17085864	1.00[AMR][1000 genomes]
rs17085882	1.00[AMR][1000 genomes]
rs17085885	1.00[AMR][1000 genomes]
rs2412650	1.00[AMR][1000 genomes]
rs34028624	1.00[AMR][1000 genomes]
rs34822003	1.00[AMR][1000 genomes]
rs58578647	1.00[AMR][1000 genomes]
rs73151822	1.00[AMR][1000 genomes]
rs73151893	1.00[AMR][1000 genomes]
rs73153621	1.00[AMR][1000 genomes]
rs73153661	1.00[AMR][1000 genomes]
rs73153688	1.00[AMR][1000 genomes]
rs73816274	1.00[AMR][1000 genomes]
rs7657206	1.00[AMR][1000 genomes]
rs7659053	1.00[AMR][1000 genomes]
rs7661096	1.00[AMR][1000 genomes]
rs7662129	1.00[AMR][1000 genomes]
rs7663749	1.00[AMR][1000 genomes]
rs7686016	1.00[AMR][1000 genomes]
rs7696080	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56264800-56282200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:56264800-56292200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:56265600-56275600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:56265600-56281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:56265600-56283800	Weak transcription	Fetal Brain Male	brain
6	chr4:56265600-56286000	Weak transcription	Colonic Mucosa	Colon
7	chr4:56265600-56289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:56265800-56281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:56266000-56283200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:56266200-56275600	Weak transcription	Right Ventricle	heart
12	chr4:56267400-56280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:56267400-56282800	Weak transcription	Small Intestine	intestine
14	chr4:56267400-56283200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:56267600-56275800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:56267600-56280800	Weak transcription	A549	lung
17	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:56270000-56281000	Weak transcription	Fetal Kidney	kidney
20	chr4:56270200-56281000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:56270200-56281600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:56270200-56282800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:56270400-56277400	Weak transcription	Hela-S3	cervix
24	chr4:56270400-56286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:56271200-56275400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:56271800-56277800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr4:56272400-56275600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:56272400-56275800	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:56272400-56276000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:56272400-56278000	Weak transcription	Esophagus	oesophagus
31	chr4:56272400-56281000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:56272600-56277800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:56272600-56282800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:56272800-56275600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:56273000-56275800	Weak transcription	Primary T cells from cord blood	blood
36	chr4:56273200-56275400	Genic enhancers	Brain Hippocampus Middle	brain
37	chr4:56273200-56275800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:56273200-56279600	Weak transcription	Fetal Brain Female	brain
39	chr4:56273400-56277600	Weak transcription	HMEC	breast
40	chr4:56273400-56277800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:56273400-56283200	Weak transcription	Brain Germinal Matrix	brain
42	chr4:56273600-56275600	Weak transcription	Gastric	stomach
43	chr4:56273600-56275600	Weak transcription	Right Atrium	heart
44	chr4:56273600-56276200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:56273600-56277600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:56273600-56277800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:56273600-56277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:56273600-56277800	Weak transcription	Fetal Intestine Small	intestine
49	chr4:56273600-56277800	Weak transcription	Fetal Stomach	stomach
50	chr4:56273600-56277800	Weak transcription	Lung	lung

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