Variant report

Variant	rs516804
Chromosome Location	chr4:128890344-128890345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128702833..128705552-chr4:128889924..128891544,2	K562	blood:
2	chr4:128886738..128888443-chr4:128888507..128891762,3	K562	blood:
3	chr4:128888993..128892528-chr4:128897283..128899605,3	K562	blood:
4	chr4:128885127..128890546-chr4:128980550..128983845,11	K562	blood:
5	chr4:128884948..128891801-chr4:128980633..128984811,17	K562	blood:

Variant related genes	Relation type
ENSG00000164070	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000164073	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10049564	1.00[CEU][hapmap]
rs13106597	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs13138837	1.00[LWK][hapmap]
rs17393302	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs17393479	1.00[JPT][hapmap]
rs2061442	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap]
rs2169270	1.00[ASW][hapmap]
rs413343	1.00[LWK][hapmap]
rs4417984	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers 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 target site	44 gene(s)	inside rSNPs	diseases
8	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
11	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
12	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
16	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
17	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
18	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887400-128890400	Weak transcription	Left Ventricle	heart
2	chr4:128887400-128894200	Weak transcription	Lung	lung
3	chr4:128887400-128905600	Weak transcription	Placenta	Placenta
4	chr4:128887400-128909400	Weak transcription	Ovary	ovary
5	chr4:128887400-128912200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:128887600-128890400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:128887600-128890400	Weak transcription	Right Atrium	heart
8	chr4:128887600-128892800	Weak transcription	Fetal Thymus	thymus
9	chr4:128887600-128893000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:128887600-128894200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:128887600-128894200	Weak transcription	Fetal Stomach	stomach
12	chr4:128887600-128894400	Weak transcription	Brain Germinal Matrix	brain
13	chr4:128887600-128896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:128887600-128897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:128887600-128904600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:128887600-128905600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:128887600-128907200	Weak transcription	HSMMtube	muscle
18	chr4:128887600-128910000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:128887600-128920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
24	chr4:128887800-128891800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:128887800-128891800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:128887800-128892800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:128887800-128893000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:128887800-128893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:128887800-128893200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:128887800-128893200	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:128887800-128894200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:128887800-128894200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:128887800-128894200	Weak transcription	Adipose Nuclei	Adipose
34	chr4:128887800-128894200	Weak transcription	Esophagus	oesophagus
35	chr4:128887800-128894200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:128887800-128894200	Weak transcription	Thymus	Thymus
37	chr4:128887800-128894400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:128887800-128894400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:128887800-128894400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:128887800-128894600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:128887800-128894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:128887800-128894600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:128887800-128894600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:128887800-128894800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:128887800-128895000	Weak transcription	Pancreas	Pancrea
46	chr4:128887800-128895400	Weak transcription	Spleen	Spleen
47	chr4:128887800-128899400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:128887800-128899800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:128887800-128905400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:128887800-128912800	Weak transcription	Fetal Brain Male	brain

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