Variant report

Variant	rs72913042
Chromosome Location	chr4:100816816-100816817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:100816403-100817197	A549	lung:	n/a	n/a
2	POLR2A	chr4:100815167-100817274	K562	blood:	n/a	n/a
3	POLR2A	chr4:100815415-100816926	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:100815312-100817046	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:100816357-100816828	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:100816719-100816938	GM12891	blood:	n/a	n/a
7	POLR2A	chr4:100814765-100817025	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
2	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
3	chr4:100815570..100818331-chr4:100848090..100849658,2	K562	blood:
4	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
5	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:

No data

Variant related genes	Relation type
LAMTOR3	TF binding region
ENSG00000164031	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57427258	1.00[AFR][1000 genomes]
rs6833047	1.00[AFR][1000 genomes]
rs72918771	1.00[AFR][1000 genomes]
rs72918775	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100815600-100840000	Weak transcription	Small Intestine	intestine
2	chr4:100816000-100823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:100816000-100829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:100816000-100839800	Weak transcription	Esophagus	oesophagus
5	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:100816000-100867000	Weak transcription	Lung	lung
7	chr4:100816200-100818600	Weak transcription	HSMM	muscle
8	chr4:100816200-100819000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:100816200-100819000	Weak transcription	GM12878-XiMat	blood
10	chr4:100816200-100819000	Weak transcription	NHEK	skin
11	chr4:100816200-100819400	Weak transcription	HMEC	breast
12	chr4:100816200-100819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:100816200-100820000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:100816200-100820000	Weak transcription	HUVEC	blood vessel
15	chr4:100816200-100820600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:100816200-100821200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:100816200-100821600	Weak transcription	NHDF-Ad	bronchial
18	chr4:100816200-100822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:100816200-100822000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:100816200-100822000	Weak transcription	Liver	Liver
21	chr4:100816200-100822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:100816200-100822000	Weak transcription	NH-A	brain
23	chr4:100816200-100822000	Weak transcription	Osteobl	bone
24	chr4:100816200-100822400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:100816200-100822800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:100816200-100822800	Weak transcription	Fetal Kidney	kidney
27	chr4:100816200-100823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:100816200-100823000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:100816200-100823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:100816200-100823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:100816200-100823200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:100816200-100823200	Weak transcription	Ovary	ovary
33	chr4:100816200-100823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:100816200-100823400	Weak transcription	Brain Anterior Caudate	brain
35	chr4:100816200-100823400	Weak transcription	HSMMtube	muscle
36	chr4:100816200-100823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:100816200-100823800	Weak transcription	Brain Angular Gyrus	brain
38	chr4:100816200-100827000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:100816200-100827200	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:100816200-100827400	Weak transcription	K562	blood
41	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
43	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
45	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
46	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
47	chr4:100816200-100851400	Weak transcription	A549	lung
48	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:100816200-100853600	Weak transcription	NHLF	lung
50	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion

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