Variant report

Variant	rs72929179
Chromosome Location	chr3:48736261-48736262
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	POLR2A	chr3:48736187-48736469	GM12892	blood:	n/a	n/a
2	POLR2A	chr3:48736167-48736450	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:48736158-48736680	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:48735966-48736432	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:48736074-48736612	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:48736115-48736588	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48725665..48728051-chr3:48734995..48736912,2	MCF-7	breast:
2	chr3:48735352..48738114-chr3:48738712..48740970,2	K562	blood:

Variant related genes	Relation type
IP6K2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4077496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4858830	1.00[ASN][1000 genomes]
rs57334731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6442129	1.00[ASN][1000 genomes]
rs6806356	1.00[ASN][1000 genomes]
rs72929201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7610519	1.00[ASN][1000 genomes]
rs9882443	1.00[ASN][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	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 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	chr3:48724600-48738000	Strong transcription	Thymus	Thymus
2	chr3:48724600-48738400	Strong transcription	Primary hematopoietic stem cells	blood
3	chr3:48724600-48740400	Strong transcription	Primary B cells from cord blood	blood
4	chr3:48724600-48746600	Strong transcription	Fetal Thymus	thymus
5	chr3:48724600-48749000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:48724800-48737600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:48724800-48738400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:48725000-48738600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:48725000-48738600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:48725000-48740400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:48725000-48740800	Strong transcription	Dnd41	blood
12	chr3:48725200-48738600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr3:48725200-48746200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:48732400-48736400	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr3:48732800-48744800	Weak transcription	Small Intestine	intestine
16	chr3:48732800-48745400	Weak transcription	Psoas Muscle	Psoas
17	chr3:48733000-48736400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:48733000-48740200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:48733000-48744800	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:48733000-48745400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:48733000-48753400	Weak transcription	Aorta	Aorta
22	chr3:48733200-48736800	Weak transcription	Colonic Mucosa	Colon
23	chr3:48733200-48737600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr3:48733200-48738600	Strong transcription	Fetal Lung	lung
25	chr3:48733200-48738800	Strong transcription	Fetal Muscle Leg	muscle
26	chr3:48733200-48740800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:48733200-48744000	Weak transcription	Esophagus	oesophagus
28	chr3:48733200-48746000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:48733200-48746000	Strong transcription	Fetal Intestine Small	intestine
30	chr3:48733200-48746200	Weak transcription	Right Ventricle	heart
31	chr3:48733600-48739200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:48734000-48737400	Strong transcription	HSMMtube	muscle
33	chr3:48734000-48737600	Strong transcription	NH-A	brain
34	chr3:48734000-48737800	Strong transcription	HSMM	muscle
35	chr3:48734000-48738000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:48734000-48738600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr3:48734000-48746400	Weak transcription	Fetal Brain Male	brain
38	chr3:48734200-48736400	Weak transcription	Right Atrium	heart
39	chr3:48734200-48740200	Weak transcription	Fetal Heart	heart
40	chr3:48734200-48745400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:48734400-48736400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:48734400-48736400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:48734400-48736600	Weak transcription	Ovary	ovary
44	chr3:48734400-48737000	Weak transcription	HMEC	breast
45	chr3:48734400-48737800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:48734400-48737800	Weak transcription	Brain Angular Gyrus	brain
47	chr3:48734400-48739800	Weak transcription	A549	lung
48	chr3:48734400-48740200	Weak transcription	NHDF-Ad	bronchial
49	chr3:48734400-48740800	Strong transcription	Fetal Intestine Large	intestine
50	chr3:48734400-48741600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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