Variant report

Variant	rs5030547
Chromosome Location	chr4:110619807-110619808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:110619704-110619888	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr4:110619723-110619838	MCF10A-Er-Src	breast:	n/a	chr4:110619752-110619760

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:110619077..110621790-chr4:110741632..110744275,3	K562	blood:
2	chr4:110614201..110615730-chr4:110619732..110621357,2	K562	blood:
3	chr4:110619153..110620852-chr4:110735626..110738010,2	MCF-7	breast:
4	chr4:110354439..110356440-chr4:110619131..110621286,2	K562	blood:
5	chr4:110617659..110620407-chr4:110623274..110624827,2	MCF-7	breast:
6	chr4:110609534..110611463-chr4:110619713..110622437,2	K562	blood:
7	chr4:110618563..110622220-chr4:110622548..110625878,6	K562	blood:
8	chr4:110611670..110613762-chr4:110619125..110621842,2	K562	blood:

No data

Variant related genes	Relation type
CASP6	TF binding region
ENSG00000273447	Chromatin interaction
ENSG00000247950	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000138802	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10016907	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136260	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13141708	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13144085	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800613	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2346841	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28462209	1.00[ASN][1000 genomes]
rs3181344	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3181345	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34682042	1.00[ASN][1000 genomes]
rs5030516	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030552	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72674848	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv595142	chr4:110609481-110656730	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110572600-110623200	Weak transcription	Esophagus	oesophagus
2	chr4:110589600-110623200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:110598800-110622800	Weak transcription	NHEK	skin
4	chr4:110600800-110622600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:110601800-110622800	Weak transcription	Right Atrium	heart
6	chr4:110602600-110620000	Weak transcription	Small Intestine	intestine
7	chr4:110605000-110622800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:110605600-110622800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:110605800-110622800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:110606400-110622800	Weak transcription	Hela-S3	cervix
11	chr4:110607200-110622800	Weak transcription	Fetal Brain Male	brain
12	chr4:110607800-110623200	Weak transcription	Brain Angular Gyrus	brain
13	chr4:110609000-110622800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:110609600-110623000	Weak transcription	A549	lung
15	chr4:110609800-110623200	Weak transcription	Psoas Muscle	Psoas
16	chr4:110611000-110623200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:110611200-110621600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:110611200-110623800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:110611600-110622600	Weak transcription	Fetal Heart	heart
20	chr4:110611600-110623200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:110612200-110622800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:110612200-110623000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:110612400-110622800	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:110613000-110623200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:110613200-110622400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:110613600-110620000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:110613600-110622800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:110613800-110622800	Weak transcription	NHDF-Ad	bronchial
29	chr4:110614200-110622600	Weak transcription	Brain Germinal Matrix	brain
30	chr4:110614200-110622800	Weak transcription	Right Ventricle	heart
31	chr4:110614200-110622800	Weak transcription	HMEC	breast
32	chr4:110614200-110623000	Weak transcription	NHLF	lung
33	chr4:110614200-110623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:110614400-110622800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:110614400-110622800	Weak transcription	Primary B cells from cord blood	blood
36	chr4:110614400-110622800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:110614400-110622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:110614400-110622800	Weak transcription	Ovary	ovary
39	chr4:110614400-110622800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:110614400-110623000	Weak transcription	NH-A	brain
41	chr4:110614600-110622600	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:110614600-110622800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:110615400-110622800	Weak transcription	Placenta	Placenta
44	chr4:110615400-110623200	Weak transcription	Aorta	Aorta
45	chr4:110615600-110622600	Weak transcription	Spleen	Spleen
46	chr4:110615600-110623000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:110615800-110620400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr4:110615800-110621600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:110615800-110622600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:110615800-110622600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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