Variant report

Variant	rs11941615
Chromosome Location	chr4:89950821-89950822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs72872103	1.00[AMR][1000 genomes]
rs72872106	1.00[AMR][1000 genomes]
rs72872111	1.00[AMR][1000 genomes]
rs72872114	1.00[AMR][1000 genomes]
rs72872122	1.00[AMR][1000 genomes]
rs72872139	1.00[AMR][1000 genomes]
rs72872161	1.00[AMR][1000 genomes]
rs72872187	1.00[AMR][1000 genomes]
rs72874108	1.00[AMR][1000 genomes]
rs72874112	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89903000-89957200	Weak transcription	HSMM	muscle
2	chr4:89926800-89951400	Weak transcription	Right Ventricle	heart
3	chr4:89933600-89951400	Weak transcription	NHLF	lung
4	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:89938200-89953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:89939600-89951200	Weak transcription	NHEK	skin
7	chr4:89940200-89957800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:89940400-89956600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:89940400-89956600	Weak transcription	NH-A	brain
10	chr4:89940400-89957800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:89940400-89957800	Weak transcription	Aorta	Aorta
12	chr4:89940400-89959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:89940400-89961000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:89940600-89954400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:89940600-89956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:89940600-89956000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:89940600-89957800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:89940600-89957800	Weak transcription	Ovary	ovary
19	chr4:89940800-89956800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:89941200-89956000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:89941200-89956200	Weak transcription	Fetal Lung	lung
22	chr4:89941800-89952200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:89941800-89952400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:89941800-89952600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:89941800-89957800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:89941800-89957800	Weak transcription	Fetal Stomach	stomach
27	chr4:89942000-89951200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:89944200-89951000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:89944200-89954000	Weak transcription	Small Intestine	intestine
30	chr4:89944200-89958000	Weak transcription	Fetal Heart	heart
31	chr4:89944200-89978000	Weak transcription	Pancreas	Pancrea
32	chr4:89944800-89955400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:89945600-89957400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:89945600-89963000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:89946200-89972800	Weak transcription	A549	lung
36	chr4:89948800-89954200	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:89949000-89957000	Weak transcription	K562	blood
38	chr4:89949200-89956000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:89949800-89953400	Weak transcription	Fetal Intestine Small	intestine
40	chr4:89949800-89956000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:89949800-89957400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:89950400-89951000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr4:89950600-89951000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr4:89950600-89951000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:89950600-89951200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr4:89950600-89951200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr4:89950800-89951200	Active TSS	Primary T cells from cord blood	blood
48	chr4:89950800-89954600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:89950800-89956800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:89950800-89957200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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