Variant report

Variant	rs9996365
Chromosome Location	chr4:148656530-148656531
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr4:148656183..148658281-chr4:148663299..148667161,4	MCF-7	breast:
7	chr4:148655157..148657016-chr4:148664536..148666375,2	MCF-7	breast:
8	chr4:148655373..148657177-chr4:148661205..148664133,2	K562	blood:
9	chr4:148649646..148651392-chr4:148654953..148657402,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction
ENSG00000252951	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10011891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	1.00[AMR][1000 genomes]
rs10034181	1.00[AMR][1000 genomes]
rs11931510	1.00[AMR][1000 genomes]
rs11932755	0.83[AMR][1000 genomes]
rs11932883	0.83[AMR][1000 genomes]
rs28416885	1.00[AMR][1000 genomes]
rs28579791	1.00[AMR][1000 genomes]
rs34001293	0.83[AMR][1000 genomes]
rs57632432	0.83[AMR][1000 genomes]
rs58012022	0.83[AMR][1000 genomes]
rs58285779	0.83[AMR][1000 genomes]
rs58965352	1.00[AMR][1000 genomes]
rs59938265	0.83[AMR][1000 genomes]
rs61312957	0.83[AMR][1000 genomes]
rs61355480	0.83[AMR][1000 genomes]
rs61363583	0.83[AMR][1000 genomes]
rs72945871	0.83[AMR][1000 genomes]
rs72945873	0.83[AMR][1000 genomes]
rs72945877	0.83[AMR][1000 genomes]
rs72945879	0.83[AMR][1000 genomes]
rs72945896	0.83[AMR][1000 genomes]
rs72947812	0.83[AMR][1000 genomes]
rs72947824	0.83[AMR][1000 genomes]
rs72947833	0.83[AMR][1000 genomes]
rs72947849	0.83[AMR][1000 genomes]
rs72947870	0.83[AMR][1000 genomes]
rs72947876	0.83[AMR][1000 genomes]
rs72947892	0.83[AMR][1000 genomes]
rs72949789	0.83[AMR][1000 genomes]
rs72949795	0.83[AMR][1000 genomes]
rs72949796	0.83[AMR][1000 genomes]
rs72949798	1.00[AMR][1000 genomes]
rs72951406	1.00[AMR][1000 genomes]
rs72951412	1.00[AMR][1000 genomes]
rs72951422	1.00[AMR][1000 genomes]
rs72951423	1.00[AMR][1000 genomes]
rs72953473	1.00[AMR][1000 genomes]
rs72953477	1.00[AMR][1000 genomes]
rs72953481	1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	1.00[AMR][1000 genomes]
rs72955506	1.00[AMR][1000 genomes]
rs9997304	0.95[AFR][1000 genomes];1.00[AMR][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148652400-148657400	Active TSS	Right Ventricle	heart
2	chr4:148652400-148657800	Active TSS	Aorta	Aorta
3	chr4:148654600-148658200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:148654800-148658000	Enhancers	Fetal Intestine Large	intestine
5	chr4:148654800-148658200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:148654800-148658200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr4:148654800-148658200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:148655000-148656800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:148655000-148657800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr4:148655200-148656600	Weak transcription	Thymus	Thymus
11	chr4:148655200-148658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:148655400-148656600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:148655400-148656600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:148655400-148656600	Active TSS	Ovary	ovary
15	chr4:148655400-148656600	Active TSS	Psoas Muscle	Psoas
16	chr4:148655400-148656800	Enhancers	NH-A	brain
17	chr4:148655400-148657000	Active TSS	Right Atrium	heart
18	chr4:148655400-148657200	Enhancers	Fetal Kidney	kidney
19	chr4:148655400-148657400	Active TSS	Esophagus	oesophagus
20	chr4:148655400-148658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:148655400-148658000	Enhancers	A549	lung
22	chr4:148655400-148662600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:148655400-148662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:148655600-148656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:148655600-148656600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:148655600-148656600	Enhancers	Fetal Lung	lung
27	chr4:148655600-148656600	Weak transcription	Gastric	stomach
28	chr4:148655600-148656600	Weak transcription	Stomach Mucosa	stomach
29	chr4:148655600-148656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:148655600-148656800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr4:148655600-148658200	Enhancers	HMEC	breast
32	chr4:148655600-148662600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:148655600-148662800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:148655600-148681600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:148655800-148656800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:148655800-148656800	Enhancers	NHEK	skin
37	chr4:148655800-148658000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:148655800-148658200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:148655800-148658200	Enhancers	Hela-S3	cervix
40	chr4:148655800-148660200	Weak transcription	Placenta	Placenta
41	chr4:148655800-148663400	Enhancers	Fetal Heart	heart
42	chr4:148655800-148665600	Weak transcription	Lung	lung
43	chr4:148656000-148656600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:148656000-148656600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:148656000-148656600	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:148656000-148656600	Enhancers	HSMM	muscle
47	chr4:148656000-148656600	Enhancers	Osteobl	bone
48	chr4:148656000-148656800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:148656000-148656800	Weak transcription	Left Ventricle	heart
50	chr4:148656000-148657000	Enhancers	Skeletal Muscle Female	skeletal muscle

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