Variant report

Variant	rs72924501
Chromosome Location	chr4:129196331-129196332
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr4:129196256-129196905	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr4:129196163-129197001	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:129195878..129197914-chr4:129199848..129202701,2	K562	blood:
2	chr4:129195768..129200142-chr4:129201201..129205010,4	K562	blood:
3	chr4:129191253..129196346-chr4:129207111..129210585,6	MCF-7	breast:
4	chr4:129147470..129151366-chr4:129195142..129198204,3	MCF-7	breast:

Variant related genes	Relation type
PGRMC2	TF binding region
ENSG00000164040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41298561	1.00[AFR][1000 genomes]
rs72926306	0.89[AFR][1000 genomes]

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	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129173800-129207400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129184600-129206200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:129187800-129206400	Weak transcription	Ovary	ovary
4	chr4:129187800-129206600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:129187800-129207200	Weak transcription	Aorta	Aorta
6	chr4:129188600-129205800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:129188800-129203600	Weak transcription	Stomach Mucosa	stomach
8	chr4:129188800-129206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:129189000-129200800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:129189000-129205600	Weak transcription	Fetal Lung	lung
11	chr4:129189400-129198800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:129189400-129206000	Weak transcription	Fetal Stomach	stomach
13	chr4:129189400-129207200	Weak transcription	Thymus	Thymus
14	chr4:129189600-129200800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:129189800-129205400	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:129190000-129197000	Weak transcription	Pancreas	Pancrea
17	chr4:129190000-129206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:129190200-129200400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:129190400-129201000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:129190600-129198000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:129190600-129205400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:129190600-129206200	Weak transcription	Psoas Muscle	Psoas
23	chr4:129190600-129206600	Weak transcription	Brain Anterior Caudate	brain
24	chr4:129191000-129206200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:129191200-129197600	Weak transcription	Small Intestine	intestine
26	chr4:129191400-129207800	Weak transcription	Esophagus	oesophagus
27	chr4:129191600-129200600	Weak transcription	Fetal Brain Female	brain
28	chr4:129191600-129206600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:129191600-129207400	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:129191800-129205400	Weak transcription	Fetal Brain Male	brain
31	chr4:129192200-129197000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:129192400-129200600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:129192400-129205800	Weak transcription	Fetal Kidney	kidney
34	chr4:129192400-129206200	Weak transcription	Brain Germinal Matrix	brain
35	chr4:129192600-129207800	Weak transcription	Lung	lung
36	chr4:129192800-129206200	Weak transcription	Primary B cells from cord blood	blood
37	chr4:129192800-129207200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:129193000-129196400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:129193000-129196600	Weak transcription	NHEK	skin
40	chr4:129193000-129196600	Weak transcription	NHLF	lung
41	chr4:129193000-129199200	Weak transcription	Right Ventricle	heart
42	chr4:129193000-129201800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:129193000-129203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:129193000-129204400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:129193000-129205400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:129193000-129206400	Weak transcription	Left Ventricle	heart
47	chr4:129193000-129207400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:129193200-129200800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:129193200-129202200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:129193400-129196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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