Variant report

Variant	rs530402688
Chromosome Location	chr4:95498568-95498569
allele	C/T
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	REST	chr4:95498412-95498611	SK-N-SH	brain:	n/a	chr4:95498562-95498572
2	MXI1	chr4:95498062-95498770	SK-N-SH	brain:	n/a	chr4:95498473-95498488 chr4:95498471-95498486

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95372974..95374639-chr4:95498211..95500101,2	K562	blood:
2	chr4:95498533..95501686-chr4:95504980..95507488,3	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000163110	Chromatin interaction

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	esv2492606	chr4:95498006-95499606	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3409183	chr4:95498279-95500302	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 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	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:95484000-95507400	Weak transcription	Hela-S3	cervix
3	chr4:95489000-95507400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:95489200-95506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:95489200-95507400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:95489200-95509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:95489400-95506200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:95489600-95508200	Weak transcription	GM12878-XiMat	blood
9	chr4:95489600-95522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:95492000-95502200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
13	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:95494000-95506200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:95495200-95506800	Weak transcription	Fetal Stomach	stomach
16	chr4:95496000-95501800	Weak transcription	Fetal Lung	lung
17	chr4:95496200-95498600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:95496800-95499800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:95497000-95498600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr4:95497000-95499800	Enhancers	Colon Smooth Muscle	Colon
21	chr4:95497200-95498800	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:95497200-95500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:95497200-95500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:95497200-95506400	Weak transcription	Left Ventricle	heart
25	chr4:95497200-95506800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:95497200-95506800	Weak transcription	Psoas Muscle	Psoas
27	chr4:95497200-95507400	Weak transcription	Primary T cells from cord blood	blood
28	chr4:95497200-95511000	Weak transcription	Ovary	ovary
29	chr4:95497200-95512600	Weak transcription	Aorta	Aorta
30	chr4:95497200-95512600	Weak transcription	Pancreas	Pancrea
31	chr4:95497200-95513800	Weak transcription	Right Ventricle	heart
32	chr4:95497200-95516200	Weak transcription	Right Atrium	heart
33	chr4:95497200-95520000	Weak transcription	Spleen	Spleen
34	chr4:95497200-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:95497200-95524600	Weak transcription	Gastric	stomach
36	chr4:95497200-95524600	Weak transcription	Lung	lung
37	chr4:95497200-95526000	Weak transcription	Brain Angular Gyrus	brain
38	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
40	chr4:95497400-95498800	Enhancers	HUVEC	blood vessel
41	chr4:95497400-95499400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:95497400-95499600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:95497400-95502400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:95497400-95505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:95497400-95505000	Weak transcription	Brain Substantia Nigra	brain
46	chr4:95497400-95506000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:95497400-95506800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr4:95497400-95506800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:95497400-95506800	Weak transcription	Adipose Nuclei	Adipose
50	chr4:95497400-95507600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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