Variant report

Variant	rs1396192
Chromosome Location	chr4:175178750-175178751
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	chr4:175178384..175179890-chr4:175203575..175205632,2	K562	blood:

Variant related genes	Relation type
ENSG00000164118	Chromatin interaction
ENSG00000164117	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv881449	chr4:174984230-175225452	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv596234	chr4:175053051-175361437	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175147600-175195200	Weak transcription	Psoas Muscle	Psoas
2	chr4:175151400-175192800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:175151800-175181600	Weak transcription	Brain Angular Gyrus	brain
4	chr4:175153200-175184000	Weak transcription	Lung	lung
5	chr4:175153400-175191600	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:175154200-175204000	Weak transcription	Aorta	Aorta
7	chr4:175154200-175204200	Weak transcription	Esophagus	oesophagus
8	chr4:175154400-175186200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:175154400-175202400	Weak transcription	Gastric	stomach
10	chr4:175155400-175185000	Weak transcription	Spleen	Spleen
11	chr4:175155800-175186600	Weak transcription	Fetal Brain Female	brain
12	chr4:175156600-175181600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:175156800-175183400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:175157000-175179600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:175157000-175181400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:175157000-175184000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr4:175158800-175202000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:175159000-175180400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:175159000-175184000	Weak transcription	Ovary	ovary
20	chr4:175159000-175184200	Weak transcription	Fetal Lung	lung
21	chr4:175159800-175199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:175161000-175192400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:175162400-175180600	Weak transcription	Dnd41	blood
24	chr4:175167600-175178800	Weak transcription	Fetal Brain Male	brain
25	chr4:175169800-175203600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:175171800-175195200	Weak transcription	Pancreas	Pancrea
27	chr4:175173800-175185000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:175174000-175188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:175174200-175178800	Strong transcription	Primary B cells from cord blood	blood
30	chr4:175174400-175180400	Weak transcription	GM12878-XiMat	blood
31	chr4:175174600-175182000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:175174600-175184200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:175174800-175182200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr4:175174800-175186600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:175174800-175199800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:175174800-175203400	Weak transcription	Thymus	Thymus
37	chr4:175175000-175196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:175175000-175198600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:175175200-175181200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:175175200-175181600	Weak transcription	Fetal Intestine Small	intestine
41	chr4:175175200-175183400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:175176200-175178800	Enhancers	Hela-S3	cervix
43	chr4:175176200-175179400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr4:175176600-175181000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:175176800-175182000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:175177000-175178800	Genic enhancers	Adipose Nuclei	Adipose
47	chr4:175177000-175179000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr4:175177000-175179000	Enhancers	Colon Smooth Muscle	Colon
49	chr4:175177200-175180400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr4:175177200-175181200	Weak transcription	Brain Hippocampus Middle	brain

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