Variant report

Variant	rs3822128
Chromosome Location	chr4:142155214-142155215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142152209..142155959-chr4:142156950..142159501,4	K562	blood:
2	chr4:142147670..142151486-chr4:142153035..142157398,7	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10005504	0.82[JPT][hapmap]
rs10006088	1.00[JPT][hapmap]
rs10012469	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11100711	1.00[JPT][hapmap]
rs12644691	1.00[JPT][hapmap]
rs12648458	1.00[JPT][hapmap]
rs13136834	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs13142694	1.00[JPT][hapmap]
rs3775595	1.00[JPT][hapmap];0.81[TSI][hapmap]
rs6821087	1.00[JPT][hapmap]
rs6837873	1.00[JPT][hapmap]
rs6841849	1.00[JPT][hapmap]
rs6853022	1.00[JPT][hapmap]
rs9998091	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757959	chr4:142065661-142367951	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759287	chr4:142065661-142367951	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3822128	ZNF330	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142142600-142159400	Weak transcription	Spleen	Spleen
2	chr4:142143200-142157000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:142143400-142156400	Weak transcription	Stomach Mucosa	stomach
4	chr4:142143600-142156400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:142143600-142156400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:142143800-142156600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:142143800-142156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:142143800-142157000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr4:142143800-142158800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:142144000-142155400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:142144000-142156400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:142144000-142156800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:142144000-142156800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:142144000-142157000	Strong transcription	Fetal Thymus	thymus
15	chr4:142144000-142157200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr4:142144000-142158000	Strong transcription	HSMM	muscle
17	chr4:142144200-142156800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr4:142144200-142157000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:142144200-142157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:142144200-142157200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:142144200-142157200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:142144400-142155400	Strong transcription	K562	blood
23	chr4:142144400-142156200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:142144400-142156600	Strong transcription	Primary B cells from cord blood	blood
25	chr4:142144400-142157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:142144600-142156400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:142144600-142156800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr4:142144600-142156800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:142144600-142156800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr4:142144600-142156800	Strong transcription	Osteobl	bone
31	chr4:142144600-142157200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:142144800-142156800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr4:142144800-142157200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:142144800-142157600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr4:142144800-142157800	Strong transcription	Dnd41	blood
36	chr4:142144800-142158000	Strong transcription	Primary T cells from cord blood	blood
37	chr4:142145000-142156800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:142145000-142158000	Weak transcription	Small Intestine	intestine
39	chr4:142145200-142157000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:142145400-142156600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr4:142145400-142157000	Strong transcription	Liver	Liver
42	chr4:142145800-142156800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:142145800-142156800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:142146000-142156600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr4:142146000-142156800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:142146000-142157200	Strong transcription	Adipose Nuclei	Adipose
47	chr4:142146200-142155600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:142146200-142156000	Strong transcription	NHDF-Ad	bronchial
49	chr4:142146200-142157200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:142146400-142157000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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