Variant report

Variant	rs549850812
Chromosome Location	chr5:74635180-74635181
allele	G/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	chr5:74631514-74635189	H1-neurons	neurons:	n/a	chr5:74633899-74633919 chr5:74634974-74634983 chr5:74633899-74633919 chr5:74633905-74633919 chr5:74633939-74633948 chr5:74633163-74633173 chr5:74633899-74633919 chr5:74633900-74633918

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74634550..74639803-chr5:74643156..74647439,6	MCF-7	breast:

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000247372	TF binding region
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3420962	chr5:74634946-74635894	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74631800-74636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:74631800-74636400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:74632000-74635600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:74632000-74635600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:74632000-74635600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:74632000-74635800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:74632000-74635800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:74632000-74635800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:74632000-74635800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:74632000-74636000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:74632200-74635400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr5:74632200-74635400	Active TSS	NHLF	lung
15	chr5:74632200-74635600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:74632200-74635600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:74632200-74635800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:74632200-74638400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr5:74632400-74635400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:74632400-74635400	Active TSS	Fetal Brain Female	brain
21	chr5:74632400-74635400	Active TSS	GM12878-XiMat	blood
22	chr5:74632400-74636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:74633800-74638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:74633800-74645800	Weak transcription	Gastric	stomach
25	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
26	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
27	chr5:74634000-74637000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:74634000-74637200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:74634000-74638800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:74634000-74640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:74634000-74640400	Weak transcription	Left Ventricle	heart
32	chr5:74634200-74635200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:74634200-74635200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:74634200-74635200	Enhancers	Ovary	ovary
35	chr5:74634200-74635200	Flanking Active TSS	HUVEC	blood vessel
36	chr5:74634200-74635400	Weak transcription	Small Intestine	intestine
37	chr5:74634200-74635800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr5:74634200-74635800	Active TSS	HepG2	liver
39	chr5:74634200-74636000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr5:74634200-74636800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
41	chr5:74634200-74639200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:74634200-74641200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:74634200-74641400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:74634400-74635200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr5:74634400-74635200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:74634400-74635600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:74634400-74635600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:74634400-74635800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:74634400-74636800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:74634400-74636800	Enhancers	Stomach Mucosa	stomach

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