Variant report

Variant	rs11730336
Chromosome Location	chr4:15654549-15654550
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	chr4:15650281..15653257-chr4:15654255..15656394,2	K562	blood:
2	chr4:15652688..15657004-chr4:15659488..15663550,8	K562	blood:
3	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
4	chr4:15644617..15647033-chr4:15653636..15655308,2	K562	blood:
5	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
6	chr4:15652202..15654659-chr4:15668639..15670937,2	MCF-7	breast:
7	chr4:15479691..15482462-chr4:15651754..15655275,3	MCF-7	breast:
8	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction
ENSG00000048342	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001565	0.86[ASN][1000 genomes]
rs10516289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723554	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735063	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12643475	0.86[ASN][1000 genomes]
rs12650632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532698	0.86[ASN][1000 genomes]
rs34910084	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4301112	0.92[ASN][1000 genomes]
rs56089642	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62290586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290591	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290593	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62290595	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239201	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9942212	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3464809	chr4:15646178-15656952	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3464811	chr4:15646243-15656896	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3464810	chr4:15646249-15656868	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3464812	chr4:15646332-15656829	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
3	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:15628000-15655600	Weak transcription	Lung	lung
5	chr4:15635600-15655600	Weak transcription	Esophagus	oesophagus
6	chr4:15635800-15654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:15638800-15655000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:15642000-15655200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:15642000-15656200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:15643600-15654800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:15643600-15655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:15647200-15655000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:15647600-15655000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:15649000-15655000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr4:15649200-15654600	Enhancers	Colon Smooth Muscle	Colon
16	chr4:15649200-15655000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr4:15649200-15655000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr4:15649200-15655200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:15649400-15655000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:15649600-15654600	Enhancers	Brain Hippocampus Middle	brain
21	chr4:15649600-15654800	Enhancers	Adipose Nuclei	Adipose
22	chr4:15649600-15654800	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:15650000-15655200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr4:15650200-15655000	Enhancers	Brain Cingulate Gyrus	brain
25	chr4:15650800-15655000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:15651000-15655000	Weak transcription	Right Ventricle	heart
27	chr4:15651400-15654800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:15651400-15655000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:15651400-15655000	Enhancers	Fetal Heart	heart
30	chr4:15651400-15655000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:15651600-15655200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:15651600-15655800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:15651800-15655000	Weak transcription	Fetal Thymus	thymus
34	chr4:15651800-15656200	Weak transcription	Spleen	Spleen
35	chr4:15652000-15655000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr4:15652200-15654600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:15652200-15655400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:15652600-15654600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr4:15652600-15654800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr4:15652600-15655000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:15652600-15655000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:15652800-15654600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:15652800-15654600	Enhancers	Brain Angular Gyrus	brain
44	chr4:15652800-15654800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:15652800-15654800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:15652800-15655000	Enhancers	Fetal Intestine Small	intestine
47	chr4:15652800-15655200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:15652800-15656400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:15653000-15654600	Flanking Active TSS	NHEK	skin
50	chr4:15653000-15654800	Enhancers	Fetal Intestine Large	intestine

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