Variant report

Variant	rs2389865
Chromosome Location	chr4:120514756-120514757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10027627	0.85[AFR][1000 genomes]
rs10028249	0.81[AFR][1000 genomes]
rs12331968	0.97[AFR][1000 genomes]
rs13119104	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs13122502	1.00[AFR][1000 genomes]
rs13125819	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs2257018	0.92[AFR][1000 genomes]
rs2389867	1.00[AFR][1000 genomes]
rs2389871	0.83[YRI][hapmap]
rs2389884	0.85[AFR][1000 genomes]
rs2622497	0.92[LWK][hapmap];0.93[MKK][hapmap]
rs2715018	0.92[AFR][1000 genomes]
rs2715020	0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs2715021	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2715022	1.00[AFR][1000 genomes]
rs2928991	0.80[YRI][hapmap];0.85[AFR][1000 genomes]
rs2953292	0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs4146266	0.92[LWK][hapmap];0.93[MKK][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs4264816	0.91[YRI][hapmap];1.00[AFR][1000 genomes]
rs4513554	1.00[AFR][1000 genomes]
rs4834786	0.89[AFR][1000 genomes]
rs4834787	0.81[AFR][1000 genomes]
rs6817738	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs6845402	0.91[YRI][hapmap]
rs7439678	0.85[AFR][1000 genomes]
rs7675276	0.86[AFR][1000 genomes]
rs7697823	1.00[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:48 , 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	chr4:120486800-120515800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:120486800-120516400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:120486800-120527600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:120492200-120540000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:120501800-120520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:120502000-120516200	Weak transcription	Fetal Intestine Large	intestine
9	chr4:120502200-120516400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:120502200-120527800	Weak transcription	Pancreas	Pancrea
11	chr4:120502400-120526400	Weak transcription	Fetal Stomach	stomach
12	chr4:120502600-120541000	Weak transcription	Left Ventricle	heart
13	chr4:120503000-120517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:120503200-120516400	Weak transcription	Ovary	ovary
15	chr4:120503200-120517800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:120504400-120516400	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:120504400-120520200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:120504600-120519800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:120505000-120519800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:120505200-120518400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:120505400-120516600	Weak transcription	Aorta	Aorta
22	chr4:120505600-120519800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:120506000-120515400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:120506000-120516000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:120506200-120525800	Weak transcription	Fetal Kidney	kidney
26	chr4:120509600-120520000	Weak transcription	Psoas Muscle	Psoas
27	chr4:120511000-120515800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:120511400-120520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:120511600-120519600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:120512200-120515600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:120512600-120516000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:120512600-120519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:120512600-120530400	Weak transcription	Colonic Mucosa	Colon
34	chr4:120512800-120516200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:120512800-120531600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:120513200-120518400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:120513600-120517200	Strong transcription	Osteobl	bone
38	chr4:120513800-120514800	Enhancers	Fetal Heart	heart
39	chr4:120513800-120514800	Genic enhancers	NHLF	lung
40	chr4:120513800-120515000	Enhancers	Colon Smooth Muscle	Colon
41	chr4:120513800-120516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:120514000-120514800	Enhancers	Fetal Lung	lung
43	chr4:120514000-120516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:120514200-120514800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:120514200-120517800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:120514200-120520000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:120514200-120528600	Weak transcription	Gastric	stomach
48	chr4:120514600-120516000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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