Variant report

Variant	rs3812011
Chromosome Location	chr5:147762597-147762598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr5:147762498-147764277	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr5:147762108-147766732	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:147762560-147765195	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:147762182-147766645	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:147762581-147762725	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:147762474-147764496	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:147762503-147764584	GM12891	blood:	n/a	n/a
8	MXI1	chr5:147762302-147764575	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr5:147762536-147765992	GM12878	blood:	n/a	n/a
10	HCFC1	chr5:147762041-147764382	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:147754412..147757315-chr5:147760463..147763292,2	MCF-7	breast:
2	chr5:147754191..147756120-chr5:147761410..147763004,2	K562	blood:
3	chr5:147762466..147766033-chr5:147774810..147779515,8	K562	blood:
4	chr5:147692078..147693866-chr5:147761440..147764078,2	MCF-7	breast:
5	chr5:147752174..147758747-chr5:147760816..147763342,8	K562	blood:
6	chr5:147761605..147765923-chr5:147767275..147775967,11	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO38	TF binding region
ENSG00000145879	Chromatin interaction
ENSG00000145868	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10515614	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11957411	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs15463	0.88[EUR][1000 genomes]
rs17108157	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs17108171	0.88[AFR][1000 genomes]
rs17720107	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17776376	1.00[TSI][hapmap]
rs1833767	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862429	0.89[ASW][hapmap];0.90[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs2303056	1.00[CEU][hapmap]
rs3815731	1.00[CEU][hapmap]
rs4705254	1.00[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs4705255	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705258	0.85[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs58313354	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58341123	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58502205	0.88[EUR][1000 genomes]
rs58732488	0.83[EUR][1000 genomes]
rs59691479	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60746551	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147751400-147763000	Weak transcription	Esophagus	oesophagus
2	chr5:147752600-147762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:147752800-147762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:147752800-147762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:147755400-147762600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:147755600-147763000	Weak transcription	Lung	lung
7	chr5:147756000-147762600	Weak transcription	Right Ventricle	heart
8	chr5:147756600-147762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:147757000-147763200	Weak transcription	Gastric	stomach
10	chr5:147758800-147763000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:147759400-147762800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:147759600-147762600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:147761400-147762600	Enhancers	HepG2	liver
14	chr5:147761600-147762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:147761600-147762600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:147761600-147764600	Active TSS	Right Atrium	heart
17	chr5:147761800-147762800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:147762000-147762600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:147762000-147762600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:147762000-147762600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:147762000-147763000	Active TSS	Brain Germinal Matrix	brain
22	chr5:147762000-147763200	Flanking Active TSS	HUVEC	blood vessel
23	chr5:147762200-147762600	Enhancers	Primary B cells from cord blood	blood
24	chr5:147762200-147762600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:147762200-147762600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:147762200-147762600	Flanking Active TSS	HMEC	breast
27	chr5:147762200-147762800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:147762200-147762800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:147762200-147762800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:147762200-147762800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:147762200-147764000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:147762200-147764200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:147762200-147764200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:147762200-147764400	Active TSS	Aorta	Aorta
35	chr5:147762200-147764600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:147762200-147764800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:147762200-147765000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:147762400-147762600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:147762400-147762600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:147762400-147762600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:147762400-147762600	Enhancers	Primary B cells from peripheral blood	blood
42	chr5:147762400-147762600	Enhancers	Primary hematopoietic stem cells	blood
43	chr5:147762400-147762600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:147762400-147762600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:147762400-147762600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:147762400-147762600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:147762400-147762600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr5:147762400-147762600	Active TSS	Duodenum Mucosa	Duodenum
49	chr5:147762400-147762600	Active TSS	Fetal Brain Female	brain
50	chr5:147762400-147762600	Flanking Active TSS	Fetal Heart	heart

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