Variant report

Variant	rs7697823
Chromosome Location	chr4:120516343-120516344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10027627	0.85[AFR][1000 genomes]
rs10028249	0.81[AFR][1000 genomes]
rs12331968	0.97[AFR][1000 genomes]
rs13119104	0.85[AFR][1000 genomes]
rs13122502	1.00[AFR][1000 genomes]
rs13125819	0.85[AFR][1000 genomes]
rs2257018	0.92[AFR][1000 genomes]
rs2389865	1.00[AFR][1000 genomes]
rs2389867	1.00[AFR][1000 genomes]
rs2389884	0.85[AFR][1000 genomes]
rs2715018	0.92[AFR][1000 genomes]
rs2715020	1.00[AFR][1000 genomes]
rs2715021	0.95[AFR][1000 genomes]
rs2715022	1.00[AFR][1000 genomes]
rs2928991	0.85[AFR][1000 genomes]
rs2953292	1.00[AFR][1000 genomes]
rs4146266	0.85[AFR][1000 genomes]
rs4264816	1.00[AFR][1000 genomes]
rs4513554	1.00[AFR][1000 genomes]
rs4834786	0.89[AFR][1000 genomes]
rs4834787	0.81[AFR][1000 genomes]
rs6817738	0.85[AFR][1000 genomes]
rs7439678	0.85[AFR][1000 genomes]
rs7675276	0.86[AFR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120485800-120520000	Weak transcription	Small Intestine	intestine
2	chr4:120486600-120516600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:120486800-120516400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:120486800-120527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:120492200-120540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:120501800-120520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:120502200-120516400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:120502200-120527800	Weak transcription	Pancreas	Pancrea
9	chr4:120502400-120526400	Weak transcription	Fetal Stomach	stomach
10	chr4:120502600-120541000	Weak transcription	Left Ventricle	heart
11	chr4:120503000-120517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:120503200-120516400	Weak transcription	Ovary	ovary
13	chr4:120503200-120517800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:120504400-120516400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:120504400-120520200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:120504600-120519800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:120505000-120519800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:120505200-120518400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:120505400-120516600	Weak transcription	Aorta	Aorta
20	chr4:120505600-120519800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:120506200-120525800	Weak transcription	Fetal Kidney	kidney
22	chr4:120509600-120520000	Weak transcription	Psoas Muscle	Psoas
23	chr4:120511400-120520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:120511600-120519600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:120512600-120519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:120512600-120530400	Weak transcription	Colonic Mucosa	Colon
27	chr4:120512800-120531600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:120513200-120518400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:120513600-120517200	Strong transcription	Osteobl	bone
30	chr4:120514200-120517800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:120514200-120520000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:120514200-120528600	Weak transcription	Gastric	stomach
33	chr4:120514800-120518200	Strong transcription	NHLF	lung
34	chr4:120514800-120518400	Weak transcription	Fetal Heart	heart
35	chr4:120514800-120519400	Weak transcription	Fetal Lung	lung
36	chr4:120515000-120519800	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:120515400-120517000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:120515600-120517600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:120515800-120517200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:120515800-120517200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:120516000-120516400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:120516000-120517000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:120516000-120517400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:120516000-120518800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr4:120516000-120519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:120516000-120520200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:120516000-120520200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:120516200-120517000	Strong transcription	Fetal Intestine Large	intestine
49	chr4:120516200-120517000	Strong transcription	Stomach Smooth Muscle	stomach

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