Variant report

Variant	rs3792654
Chromosome Location	chr4:144296249-144296250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:144295923-144296300	T-47D	breast:	n/a	n/a
2	POLR2A	chr4:144296167-144296313	ProgFib	skin:	n/a	n/a
3	CTCF	chr4:144296095-144297354	SK-N-SH	brain:	n/a	chr4:144296581-144296591 chr4:144296578-144296596 chr4:144296573-144296594 chr4:144296584-144296593 chr4:144296579-144296595

No.	Distal block	Cell Line	Cell type
1	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:
2	chr4:144257935..144259880-chr4:144296110..144298167,2	MCF-7	breast:
3	chr4:144290996..144292995-chr4:144295055..144297084,2	MCF-7	breast:
4	chr4:144279254..144282177-chr4:144295139..144296728,2	MCF-7	breast:

Variant related genes	Relation type
GAB1	TF binding region
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs300906	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018566	chr4:144284927-144298930	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
2	nsv1021714	chr4:144288438-144299191	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv1033347	chr4:144288438-144299563	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
3	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
5	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:144284000-144296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:144284000-144296600	Weak transcription	Fetal Thymus	thymus
8	chr4:144284400-144299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:144286000-144298200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:144288200-144296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:144291000-144299800	Weak transcription	Pancreas	Pancrea
12	chr4:144291400-144296600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:144291400-144296600	Weak transcription	Fetal Lung	lung
14	chr4:144291600-144296600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:144291600-144296600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:144291600-144296600	Weak transcription	Right Atrium	heart
17	chr4:144291600-144296800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:144291600-144299400	Weak transcription	Fetal Intestine Large	intestine
19	chr4:144291800-144302200	Weak transcription	Esophagus	oesophagus
20	chr4:144293200-144296600	Enhancers	Colon Smooth Muscle	Colon
21	chr4:144293200-144298000	Enhancers	Fetal Heart	heart
22	chr4:144293200-144299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:144293200-144299800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:144293200-144302400	Enhancers	Brain Substantia Nigra	brain
25	chr4:144293400-144298200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:144293600-144296600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:144293600-144302000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:144293800-144296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:144293800-144296600	Weak transcription	HMEC	breast
30	chr4:144294000-144302200	Weak transcription	Spleen	Spleen
31	chr4:144294000-144302400	Weak transcription	Gastric	stomach
32	chr4:144294200-144296600	Weak transcription	GM12878-XiMat	blood
33	chr4:144294400-144296600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:144294400-144297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:144294800-144297200	Enhancers	Ovary	ovary
36	chr4:144295000-144302800	Enhancers	Brain Cingulate Gyrus	brain
37	chr4:144295200-144297400	Enhancers	K562	blood
38	chr4:144295200-144298200	Enhancers	Primary B cells from cord blood	blood
39	chr4:144295200-144301000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:144295200-144302400	Enhancers	Brain Anterior Caudate	brain
41	chr4:144295400-144297200	Enhancers	Fetal Brain Female	brain
42	chr4:144295400-144299600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr4:144295400-144300000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:144295400-144300200	Enhancers	Fetal Brain Male	brain
45	chr4:144295400-144301000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr4:144295400-144302000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:144295600-144296600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:144295600-144297000	Weak transcription	Brain Germinal Matrix	brain
49	chr4:144295600-144297000	Enhancers	Duodenum Mucosa	Duodenum
50	chr4:144295600-144297200	Enhancers	Fetal Stomach	stomach

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