Variant report

Variant	rs183972570
Chromosome Location	chr4:48428657-48428658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48173412..48176298-chr4:48428298..48430775,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:48387600-48431400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:48391600-48434000	Weak transcription	Fetal Heart	heart
4	chr4:48400000-48431000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:48406200-48433200	Weak transcription	NHEK	skin
6	chr4:48413200-48430000	Weak transcription	Aorta	Aorta
7	chr4:48413200-48431800	Weak transcription	Brain Substantia Nigra	brain
8	chr4:48413400-48431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:48421800-48429400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:48422600-48431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:48422600-48432000	Weak transcription	Psoas Muscle	Psoas
12	chr4:48422600-48433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:48422600-48433600	Weak transcription	Esophagus	oesophagus
14	chr4:48422600-48434400	Weak transcription	Brain Germinal Matrix	brain
15	chr4:48423200-48433200	Weak transcription	Gastric	stomach
16	chr4:48423400-48438200	Weak transcription	Fetal Intestine Small	intestine
17	chr4:48423600-48433200	Weak transcription	Pancreas	Pancrea
18	chr4:48424400-48430200	Weak transcription	Fetal Stomach	stomach
19	chr4:48424400-48432200	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:48424400-48432400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:48424600-48432000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:48424800-48430400	Weak transcription	Colonic Mucosa	Colon
23	chr4:48425000-48429000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:48425000-48431000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:48425000-48431600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:48425000-48431800	Weak transcription	GM12878-XiMat	blood
27	chr4:48425000-48433200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:48425200-48429200	Weak transcription	Fetal Brain Female	brain
29	chr4:48425200-48429200	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:48425200-48430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:48425200-48431000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:48425200-48432000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:48425200-48432600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:48425200-48433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:48425200-48433200	Weak transcription	HUVEC	blood vessel
36	chr4:48425200-48433800	Weak transcription	Stomach Mucosa	stomach
37	chr4:48425200-48441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:48425400-48429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:48425400-48431000	Weak transcription	Fetal Kidney	kidney
40	chr4:48425400-48433200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:48425400-48438400	Weak transcription	HSMMtube	muscle
42	chr4:48425600-48431800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:48425600-48432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr4:48425800-48429200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:48425800-48429200	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:48425800-48429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:48425800-48429400	Weak transcription	Osteobl	bone
48	chr4:48425800-48430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:48425800-48430800	Weak transcription	Ovary	ovary
50	chr4:48425800-48431000	Weak transcription	Brain Anterior Caudate	brain

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