Variant report

Variant	rs4496566
Chromosome Location	chr4:148656075-148656076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:148652844..148654562-chr4:148655409..148657775,3	MCF-7	breast:
2	chr4:148654907..148656449-chr4:148656457..148658051,2	MCF-7	breast:
3	chr4:148655649..148657627-chr4:148748335..148749948,2	MCF-7	breast:
4	chr4:148655205..148657346-chr4:148658350..148660032,2	MCF-7	breast:
5	chr4:148655598..148657433-chr4:148661220..148663896,2	MCF-7	breast:
6	chr4:148655157..148657016-chr4:148664536..148666375,2	MCF-7	breast:
7	chr4:148655373..148657177-chr4:148661205..148664133,2	K562	blood:
8	chr4:148649646..148651392-chr4:148654953..148657402,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17023732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706053	0.89[AMR][1000 genomes]
rs59081829	0.89[AMR][1000 genomes]
rs6849336	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677034	1.00[EUR][1000 genomes]
rs7684897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs905607	1.00[EUR][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148651600-148656200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr4:148652200-148656400	Active TSS	Stomach Smooth Muscle	stomach
3	chr4:148652400-148657400	Active TSS	Right Ventricle	heart
4	chr4:148652400-148657800	Active TSS	Aorta	Aorta
5	chr4:148654600-148658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:148654800-148656400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr4:148654800-148658000	Enhancers	Fetal Intestine Large	intestine
8	chr4:148654800-148658200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:148654800-148658200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr4:148654800-148658200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:148655000-148656800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:148655000-148657800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:148655200-148656200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:148655200-148656600	Weak transcription	Thymus	Thymus
15	chr4:148655200-148658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:148655400-148656200	Enhancers	Fetal Stomach	stomach
17	chr4:148655400-148656200	Weak transcription	Small Intestine	intestine
18	chr4:148655400-148656600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:148655400-148656600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:148655400-148656600	Active TSS	Ovary	ovary
21	chr4:148655400-148656600	Active TSS	Psoas Muscle	Psoas
22	chr4:148655400-148656800	Enhancers	NH-A	brain
23	chr4:148655400-148657000	Active TSS	Right Atrium	heart
24	chr4:148655400-148657200	Enhancers	Fetal Kidney	kidney
25	chr4:148655400-148657400	Active TSS	Esophagus	oesophagus
26	chr4:148655400-148658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:148655400-148658000	Enhancers	A549	lung
28	chr4:148655400-148662600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:148655400-148662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:148655600-148656200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr4:148655600-148656200	Active TSS	GM12878-XiMat	blood
32	chr4:148655600-148656400	Enhancers	HUVEC	blood vessel
33	chr4:148655600-148656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:148655600-148656600	Enhancers	Duodenum Mucosa	Duodenum
35	chr4:148655600-148656600	Enhancers	Fetal Lung	lung
36	chr4:148655600-148656600	Weak transcription	Gastric	stomach
37	chr4:148655600-148656600	Weak transcription	Stomach Mucosa	stomach
38	chr4:148655600-148656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:148655600-148656800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr4:148655600-148658200	Enhancers	HMEC	breast
41	chr4:148655600-148662600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:148655600-148662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr4:148655800-148656200	Enhancers	Fetal Muscle Leg	muscle
45	chr4:148655800-148656200	Active TSS	NHLF	lung
46	chr4:148655800-148656400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:148655800-148656400	Enhancers	NHDF-Ad	bronchial
48	chr4:148655800-148656800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:148655800-148656800	Enhancers	NHEK	skin
50	chr4:148655800-148658000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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