Variant report

Variant	rs4704209
Chromosome Location	chr5:74634473-74634474
allele	A/G
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	RFX5	chr5:74631731-74634553	SK-N-SH	brain:	n/a	chr5:74632911-74632926 chr5:74632911-74632926 chr5:74631973-74631981
2	POLR2A	chr5:74634061-74634584	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:74631825-74635078	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:74631956-74634841	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:74633868-74634575	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr5:74631714-74635061	SK-N-SH	brain:	n/a	chr5:74632912-74632927
7	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
8	MXI1	chr5:74634434-74634569	GM12878	blood:	n/a	n/a
9	CEBPB	chr5:74634058-74634502	K562	blood:	n/a	chr5:74634187-74634200
10	POLR2A	chr5:74632147-74634508	PBDE	blood:	n/a	n/a
11	POLR2A	chr5:74632115-74635023	K562	blood:	n/a	n/a
12	POLR2A	chr5:74631833-74635019	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:74630261-74635036	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000247372	TF binding region
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12656938	0.85[EUR][1000 genomes]
rs12659331	0.85[EUR][1000 genomes]
rs17244806	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3761739	0.84[ASN][1000 genomes]
rs4432861	0.80[EUR][1000 genomes]
rs4703669	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4704215	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4704218	0.85[EUR][1000 genomes]
rs57904342	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60872847	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7717396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7726771	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7732958	1.00[CEU][hapmap]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74631800-74634800	Active TSS	NHDF-Ad	bronchial
2	chr5:74631800-74636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:74631800-74636400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:74632000-74634600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:74632000-74634800	Active TSS	HSMM	muscle
7	chr5:74632000-74635000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:74632000-74635600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:74632000-74635600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:74632000-74635600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:74632000-74635800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:74632000-74635800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:74632000-74635800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:74632000-74635800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:74632000-74636000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:74632200-74634600	Active TSS	Fetal Intestine Large	intestine
18	chr5:74632200-74634600	Active TSS	Stomach Smooth Muscle	stomach
19	chr5:74632200-74634800	Active TSS	HSMMtube	muscle
20	chr5:74632200-74635000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr5:74632200-74635400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:74632200-74635400	Active TSS	NHLF	lung
23	chr5:74632200-74635600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:74632200-74635600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:74632200-74635800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:74632200-74638400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr5:74632400-74635400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:74632400-74635400	Active TSS	Fetal Brain Female	brain
29	chr5:74632400-74635400	Active TSS	GM12878-XiMat	blood
30	chr5:74632400-74636600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:74633400-74634800	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr5:74633400-74634800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:74633400-74635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:74633600-74634600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr5:74633600-74634800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr5:74633600-74635000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:74633800-74634600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr5:74633800-74634600	Flanking Active TSS	Fetal Lung	lung
39	chr5:74633800-74634600	Flanking Active TSS	Osteobl	bone
40	chr5:74633800-74634800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:74633800-74634800	Flanking Active TSS	Liver	Liver
42	chr5:74633800-74635000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:74633800-74638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:74633800-74645800	Weak transcription	Gastric	stomach
45	chr5:74633800-74645800	Weak transcription	Spleen	Spleen
46	chr5:74633800-74650400	Weak transcription	Pancreas	Pancrea
47	chr5:74634000-74634600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr5:74634000-74634600	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr5:74634000-74634600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr5:74634000-74634600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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