Variant report

Variant	rs73831563
Chromosome Location	chr3:48297746-48297747
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	POLR2A	chr3:48297677-48297753	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:48297521-48297830	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ZNF589	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11130161	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12633518	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34136919	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34146962	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34373799	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3731532	0.84[EUR][1000 genomes]
rs57994790	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58582477	0.90[EUR][1000 genomes]
rs60305502	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73831561	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73831566	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv3339173	chr3:48292529-48302277	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48283200-48309800	Weak transcription	Fetal Lung	lung
2	chr3:48283400-48300400	Weak transcription	Gastric	stomach
3	chr3:48283400-48310000	Weak transcription	NH-A	brain
4	chr3:48283400-48315200	Weak transcription	Ovary	ovary
5	chr3:48283600-48297800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:48283600-48300200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:48283600-48300800	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:48283600-48309600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:48283800-48307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:48283800-48309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:48283800-48310400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:48284200-48302800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:48285400-48303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:48285600-48308200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:48285600-48312400	Weak transcription	Psoas Muscle	Psoas
16	chr3:48285800-48300200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:48285800-48307600	Weak transcription	Pancreas	Pancrea
18	chr3:48285800-48310200	Weak transcription	Fetal Brain Male	brain
19	chr3:48285800-48311000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:48286400-48309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:48288400-48298200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:48288600-48312800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:48289200-48297800	Weak transcription	Primary B cells from cord blood	blood
24	chr3:48289200-48312000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:48289200-48312600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:48289600-48306800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr3:48289800-48307800	Weak transcription	Brain Anterior Caudate	brain
28	chr3:48290000-48301400	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:48290000-48309400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:48290200-48300200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:48290400-48298000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:48290400-48298400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:48290400-48300400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:48290400-48300400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:48290400-48308200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:48290600-48299000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:48290600-48299600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:48290600-48300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:48290600-48307600	Weak transcription	HSMMtube	muscle
40	chr3:48290800-48299000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:48291000-48308600	Weak transcription	HUVEC	blood vessel
42	chr3:48291200-48302800	Weak transcription	K562	blood
43	chr3:48291400-48299200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:48291400-48299600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:48291400-48302200	Weak transcription	NHDF-Ad	bronchial
46	chr3:48291400-48302800	Weak transcription	Adipose Nuclei	Adipose
47	chr3:48291400-48303000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:48291400-48307600	Weak transcription	Brain Substantia Nigra	brain
49	chr3:48291600-48298000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:48291600-48300400	Weak transcription	Rectal Mucosa Donor 29	rectum

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