Variant report

Variant	rs4835440
Chromosome Location	chr4:148540537-148540538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148538536..148540743-chr4:148603744..148605353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1005871	0.85[ASN][1000 genomes]
rs10519911	0.86[ASN][1000 genomes]
rs17675572	0.83[ASN][1000 genomes]
rs2036498	0.81[ASN][1000 genomes]
rs2036500	0.96[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2036501	0.81[ASN][1000 genomes]
rs2357926	0.82[ASN][1000 genomes]
rs2654937	0.86[ASN][1000 genomes]
rs2654938	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2654940	0.98[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2654941	0.81[ASN][1000 genomes]
rs2654948	0.81[ASN][1000 genomes]
rs2718447	0.86[ASN][1000 genomes]
rs2718448	0.84[ASN][1000 genomes]
rs2718449	0.82[ASN][1000 genomes]
rs2718453	0.81[ASN][1000 genomes]
rs2718454	0.81[ASN][1000 genomes]
rs2718455	0.81[ASN][1000 genomes]
rs2718457	0.80[ASN][1000 genomes]
rs2718458	0.83[ASN][1000 genomes]
rs4835439	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57690385	0.81[ASN][1000 genomes]
rs60862021	0.80[ASN][1000 genomes]
rs6841745	0.81[ASN][1000 genomes]
rs6845224	0.85[ASN][1000 genomes]
rs6845592	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6846220	0.85[ASN][1000 genomes]
rs884761	0.82[ASN][1000 genomes]
rs9998065	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
4	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
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148539400-148541000	Weak transcription	Gastric	stomach
2	chr4:148539400-148541000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:148539400-148541000	Weak transcription	Spleen	Spleen
4	chr4:148539400-148541200	Weak transcription	Stomach Mucosa	stomach
5	chr4:148539400-148543200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:148539400-148543600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:148539400-148543800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:148539400-148547000	Weak transcription	Lung	lung
9	chr4:148539400-148547200	Weak transcription	Esophagus	oesophagus
10	chr4:148539400-148548200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:148539600-148540600	Weak transcription	Placenta	Placenta
13	chr4:148539600-148540800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:148539600-148540800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:148539600-148540800	Weak transcription	Small Intestine	intestine
16	chr4:148539600-148540800	Weak transcription	HSMM	muscle
17	chr4:148539600-148541000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:148539600-148541000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:148539600-148541000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:148539600-148541000	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:148539600-148541000	Weak transcription	Ovary	ovary
22	chr4:148539600-148541000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr4:148539600-148541000	Weak transcription	NHDF-Ad	bronchial
24	chr4:148539600-148541200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:148539600-148541600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:148539600-148542000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:148539600-148542400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr4:148539600-148542800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:148539600-148543000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:148539600-148544000	Weak transcription	Fetal Stomach	stomach
31	chr4:148539600-148546800	Weak transcription	Colonic Mucosa	Colon
32	chr4:148539600-148547000	Weak transcription	Aorta	Aorta
33	chr4:148539600-148547800	Weak transcription	HSMMtube	muscle
34	chr4:148539600-148554200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:148539800-148540800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:148539800-148540800	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:148539800-148540800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:148539800-148540800	Weak transcription	Fetal Heart	heart
39	chr4:148539800-148541000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr4:148539800-148541000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:148539800-148541000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:148539800-148541000	Weak transcription	Brain Substantia Nigra	brain
43	chr4:148539800-148541000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:148539800-148541000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:148539800-148541000	Weak transcription	Psoas Muscle	Psoas
46	chr4:148539800-148541000	Weak transcription	Right Ventricle	heart
47	chr4:148539800-148541000	Weak transcription	A549	lung
48	chr4:148539800-148541000	Weak transcription	NHEK	skin
49	chr4:148539800-148541400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr4:148539800-148541600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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