Variant report

Variant	rs59434555
Chromosome Location	chr4:78832659-78832660
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78825966..78828608-chr4:78831298..78833408,2	K562	blood:
2	chr4:78827108..78828915-chr4:78831908..78834450,2	K562	blood:
3	chr4:78782117..78784575-chr4:78830279..78833714,3	MCF-7	breast:
4	chr4:78807806..78810602-chr4:78831657..78833693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs57475713	1.00[AFR][1000 genomes]
rs59140464	1.00[AFR][1000 genomes]
rs59926102	1.00[AFR][1000 genomes]
rs60243365	1.00[AFR][1000 genomes]
rs72864981	1.00[AFR][1000 genomes]
rs72868204	1.00[AFR][1000 genomes]
rs72869523	1.00[AFR][1000 genomes]
rs72869526	1.00[AFR][1000 genomes]
rs72869551	1.00[AFR][1000 genomes]
rs72869567	1.00[AFR][1000 genomes]
rs72869576	1.00[AFR][1000 genomes]
rs72869581	1.00[AFR][1000 genomes]
rs72869595	1.00[AFR][1000 genomes]
rs72869597	1.00[AFR][1000 genomes]
rs72871103	1.00[AFR][1000 genomes]
rs72871112	1.00[AFR][1000 genomes]
rs72871117	1.00[AFR][1000 genomes]
rs72871118	1.00[AFR][1000 genomes]
rs72871124	1.00[AFR][1000 genomes]
rs72871133	1.00[AFR][1000 genomes]
rs72871136	1.00[AFR][1000 genomes]
rs72871138	1.00[AFR][1000 genomes]
rs72871155	1.00[AFR][1000 genomes]
rs72871157	1.00[AFR][1000 genomes]
rs72871162	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78784800-78842200	Weak transcription	HSMMtube	muscle
2	chr4:78784800-78859800	Weak transcription	Esophagus	oesophagus
3	chr4:78785000-78841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:78785000-78874400	Weak transcription	Right Ventricle	heart
5	chr4:78790600-78843400	Weak transcription	Small Intestine	intestine
6	chr4:78794000-78851200	Weak transcription	Spleen	Spleen
7	chr4:78794200-78851800	Weak transcription	Lung	lung
8	chr4:78795600-78833000	Weak transcription	Brain Germinal Matrix	brain
9	chr4:78802400-78858400	Weak transcription	Aorta	Aorta
10	chr4:78806000-78841400	Weak transcription	A549	lung
11	chr4:78806000-78881000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:78806600-78875600	Weak transcription	Colonic Mucosa	Colon
13	chr4:78808800-78852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:78809200-78836800	Weak transcription	Fetal Brain Female	brain
15	chr4:78809200-78837400	Weak transcription	Fetal Brain Male	brain
16	chr4:78809200-78847000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:78809400-78834400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:78809400-78841000	Weak transcription	Hela-S3	cervix
19	chr4:78809600-78851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:78809600-78851400	Weak transcription	Ovary	ovary
21	chr4:78809600-78865400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:78809600-78881200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:78810000-78851800	Weak transcription	Thymus	Thymus
24	chr4:78810400-78843400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:78814000-78841600	Weak transcription	Osteobl	bone
26	chr4:78814600-78843400	Weak transcription	Left Ventricle	heart
27	chr4:78814600-78874400	Weak transcription	Pancreas	Pancrea
28	chr4:78816400-78833200	Weak transcription	HUVEC	blood vessel
29	chr4:78816400-78866400	Weak transcription	Fetal Thymus	thymus
30	chr4:78816400-78876000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:78816600-78851400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:78816600-78875800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:78818600-78841600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:78818800-78841600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:78818800-78872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:78819200-78833000	Weak transcription	NHDF-Ad	bronchial
37	chr4:78819200-78841600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:78819200-78842000	Weak transcription	Placenta	Placenta
39	chr4:78819200-78846200	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:78819200-78852000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:78819400-78843000	Weak transcription	Fetal Lung	lung
42	chr4:78819600-78841600	Weak transcription	NH-A	brain
43	chr4:78819600-78851200	Weak transcription	Adipose Nuclei	Adipose
44	chr4:78820800-78851200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:78821000-78849000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:78821000-78866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:78821400-78873200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:78823400-78832800	Weak transcription	Dnd41	blood
49	chr4:78824800-78832800	Weak transcription	NHEK	skin
50	chr4:78826400-78833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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