Variant report

Variant	rs73082765
Chromosome Location	chr3:52015236-52015237
allele	C/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	POLR2A	chr3:52014343-52015865	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52014600..52016673-chr3:52222522..52224702,2	K562	blood:

Variant related genes	Relation type
ACY1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41292350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73082754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv876785	chr3:51994881-52022779	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52009800-52016400	Weak transcription	Small Intestine	intestine
2	chr3:52010000-52016400	Weak transcription	Left Ventricle	heart
3	chr3:52010000-52016400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:52010000-52016400	Weak transcription	Psoas Muscle	Psoas
5	chr3:52010000-52016400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:52010000-52016400	Weak transcription	HSMMtube	muscle
7	chr3:52010000-52016400	Weak transcription	NHDF-Ad	bronchial
8	chr3:52010200-52016000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:52010200-52016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:52010200-52016200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:52010200-52016200	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:52010200-52016200	Weak transcription	GM12878-XiMat	blood
13	chr3:52010200-52016400	Weak transcription	HSMM	muscle
14	chr3:52010200-52016400	Weak transcription	NH-A	brain
15	chr3:52010200-52016600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:52010400-52016000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:52010400-52016200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:52010400-52016200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:52010400-52016200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:52010400-52016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:52010400-52016400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:52010400-52016400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:52010400-52016400	Weak transcription	Brain Anterior Caudate	brain
24	chr3:52010400-52016400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:52010600-52016400	Weak transcription	Fetal Brain Male	brain
26	chr3:52011000-52016200	Weak transcription	Brain Germinal Matrix	brain
27	chr3:52011400-52016200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:52011600-52015400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:52011800-52015400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:52011800-52015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:52011800-52016200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:52011800-52016400	Weak transcription	Fetal Thymus	thymus
33	chr3:52012000-52016000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:52012000-52016200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:52012000-52016200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:52012200-52016200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:52012400-52016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:52012400-52016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:52012600-52016200	Weak transcription	HMEC	breast
40	chr3:52012600-52016400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:52012600-52016400	Weak transcription	NHEK	skin
42	chr3:52013200-52016400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:52014200-52015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:52014200-52015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr3:52014200-52015400	Strong transcription	Brain Substantia Nigra	brain
46	chr3:52014200-52015400	Strong transcription	Fetal Brain Female	brain
47	chr3:52014200-52015400	Genic enhancers	Fetal Intestine Large	intestine
48	chr3:52014200-52016200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:52014200-52016400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:52014400-52015400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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