Variant report

Variant	rs4252791
Chromosome Location	chr4:77993786-77993787
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77991930..77994376-chr4:78120322..78122333,2	K562	blood:
2	chr4:77967457..77969827-chr4:77991590..77994331,2	K562	blood:
3	chr4:77977197..77979192-chr4:77991457..77995421,4	K562	blood:
4	chr4:77992562..77994708-chr4:78066148..78068888,2	MCF-7	breast:
5	chr4:77979701..77986849-chr4:77990863..77998763,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17002342	1.00[AMR][1000 genomes]
rs17002354	1.00[AMR][1000 genomes]
rs4252749	1.00[AMR][1000 genomes]
rs4252775	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs4252812	1.00[AMR][1000 genomes]
rs4252859	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs4252934	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4252939	1.00[AMR][1000 genomes]
rs4252944	1.00[AMR][1000 genomes]
rs4252945	1.00[AMR][1000 genomes]
rs4476626	1.00[AMR][1000 genomes]
rs57303670	1.00[AMR][1000 genomes]
rs60458841	1.00[AMR][1000 genomes]
rs73826493	1.00[AMR][1000 genomes]
rs73826720	1.00[AMR][1000 genomes]
rs73826723	1.00[AMR][1000 genomes]
rs73829817	1.00[AMR][1000 genomes]
rs7690082	1.00[AMR][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	nsv879499	chr4:77990904-78003416	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:77957000-77994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:77969800-77994400	Weak transcription	Stomach Mucosa	stomach
3	chr4:77970400-77994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:77973800-77994400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:77974000-77994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:77975800-77995600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:77980000-77994800	Weak transcription	Colonic Mucosa	Colon
8	chr4:77981400-77994000	Weak transcription	Hela-S3	cervix
9	chr4:77983600-77994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:77983600-77994800	Weak transcription	Esophagus	oesophagus
11	chr4:77983600-77995400	Weak transcription	Gastric	stomach
12	chr4:77984400-77993800	Weak transcription	A549	lung
13	chr4:77984400-77993800	Weak transcription	HSMMtube	muscle
14	chr4:77985800-77994200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:77986000-77994600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:77986200-77994400	Weak transcription	Right Ventricle	heart
17	chr4:77987400-77993800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:77987400-77993800	Weak transcription	Fetal Lung	lung
19	chr4:77987400-77994000	Weak transcription	Fetal Kidney	kidney
20	chr4:77987400-77995400	Weak transcription	Lung	lung
21	chr4:77987600-77993800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:77987600-77993800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:77987600-77993800	Weak transcription	Osteobl	bone
24	chr4:77987600-77994000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:77987600-77994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:77987600-77994000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr4:77987600-77994400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:77987600-77994400	Weak transcription	Placenta	Placenta
29	chr4:77987600-77994600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:77988000-77994200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:77988200-77994600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:77988600-77994200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:77988800-77993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:77988800-77994000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:77988800-77994200	Weak transcription	HSMM	muscle
36	chr4:77988800-77994400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:77989400-77995400	Weak transcription	Pancreas	Pancrea
38	chr4:77990000-77993800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:77990200-77994800	Enhancers	Primary B cells from peripheral blood	blood
40	chr4:77990400-77994400	Weak transcription	Thymus	Thymus
41	chr4:77990600-77995800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:77990800-77994200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:77991200-77993800	Weak transcription	Brain Anterior Caudate	brain
44	chr4:77991400-77994000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:77991400-77994200	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr4:77991600-77994000	Enhancers	K562	blood
47	chr4:77991600-77994200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:77991800-77994400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:77991800-77995200	Enhancers	Liver	Liver
50	chr4:77992000-77993800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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