Variant report

Variant	rs55938082
Chromosome Location	chr4:129226706-129226707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129208314..129212395-chr4:129225432..129228405,4	MCF-7	breast:
2	chr4:129214305..129216523-chr4:129223305..129226883,3	K562	blood:
3	chr4:129220135..129221958-chr4:129226480..129228470,2	MCF-7	breast:
4	chr4:129219938..129223666-chr4:129224445..129227037,3	K562	blood:
5	chr4:129220720..129223666-chr4:129223934..129227037,4	K562	blood:
6	chr4:129220284..129223283-chr4:129225062..129228167,3	MCF-7	breast:
7	chr4:129224756..129227009-chr4:129233237..129236686,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12508205	0.83[AMR][1000 genomes]
rs12645655	0.83[AMR][1000 genomes]
rs17337491	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129210200-129228600	Weak transcription	Left Ventricle	heart
2	chr4:129210200-129230400	Weak transcription	Ovary	ovary
3	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
4	chr4:129210400-129227200	Weak transcription	Pancreas	Pancrea
5	chr4:129210400-129227800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:129210400-129231000	Weak transcription	HSMMtube	muscle
7	chr4:129210400-129231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:129210400-129235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
10	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:129210600-129231000	Weak transcription	Osteobl	bone
14	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:129210800-129227800	Weak transcription	Fetal Brain Male	brain
16	chr4:129210800-129230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:129210800-129233000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:129211000-129231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:129211000-129244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:129211200-129231200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:129211200-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:129211200-129248200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
25	chr4:129211400-129228200	Weak transcription	GM12878-XiMat	blood
26	chr4:129211400-129228600	Weak transcription	Small Intestine	intestine
27	chr4:129211400-129231200	Weak transcription	A549	lung
28	chr4:129216600-129231400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:129216800-129228400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:129216800-129228600	Weak transcription	Gastric	stomach
31	chr4:129218200-129228200	Weak transcription	Fetal Heart	heart
32	chr4:129218800-129230400	Weak transcription	Colonic Mucosa	Colon
33	chr4:129218800-129235200	Weak transcription	Placenta	Placenta
34	chr4:129219000-129231400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:129219800-129230800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:129220000-129228400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:129220200-129228400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:129220600-129227200	Weak transcription	Stomach Mucosa	stomach
39	chr4:129220800-129228400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:129221000-129231400	Weak transcription	Brain Anterior Caudate	brain
41	chr4:129221600-129229800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:129221600-129247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:129221800-129228400	Weak transcription	Liver	Liver
44	chr4:129222200-129230200	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
46	chr4:129222800-129228200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:129223200-129244000	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:129223400-129231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:129224000-129227800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:129224200-129231400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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