Variant report

Variant	rs57384151
Chromosome Location	chr3:52032661-52032662
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52031484..52033513-chr3:52037731..52040707,2	K562	blood:
2	chr3:52031889..52035644-chr3:52185003..52188385,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs178918	1.00[AMR][1000 genomes]
rs323869	1.00[AMR][1000 genomes]
rs323870	1.00[AMR][1000 genomes]
rs323872	1.00[AMR][1000 genomes]
rs323878	1.00[AMR][1000 genomes]
rs323880	1.00[AMR][1000 genomes]
rs323889	1.00[AMR][1000 genomes]
rs323891	1.00[AMR][1000 genomes]
rs323896	1.00[AMR][1000 genomes]
rs323900	1.00[AMR][1000 genomes]
rs368210	1.00[AMR][1000 genomes]
rs422304	1.00[AMR][1000 genomes]
rs56746340	1.00[AMR][1000 genomes]
rs6446141	1.00[AMR][1000 genomes]
rs72961930	1.00[AMR][1000 genomes]
rs72961999	1.00[AMR][1000 genomes]
rs72964016	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7426999	1.00[AMR][1000 genomes]
rs7636204	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9683234	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
11	nsv236961	chr3:52030637-52035392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52030000-52034200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:52030000-52034400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:52030000-52035600	Weak transcription	Esophagus	oesophagus
4	chr3:52030200-52035400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:52030200-52035400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:52030200-52038600	Weak transcription	Fetal Kidney	kidney
7	chr3:52030400-52033200	Enhancers	HepG2	liver
8	chr3:52030400-52034200	Weak transcription	Placenta	Placenta
9	chr3:52030400-52035400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr3:52030400-52035400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:52030400-52035400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:52030400-52035400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:52030400-52035400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:52030400-52035400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:52030400-52035400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:52030400-52035400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:52030400-52035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:52030400-52035400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:52030400-52035400	Weak transcription	Fetal Thymus	thymus
20	chr3:52030400-52035400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:52030400-52035600	Weak transcription	Primary B cells from cord blood	blood
22	chr3:52030400-52035600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr3:52030400-52035600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:52030400-52035600	Weak transcription	Fetal Intestine Small	intestine
25	chr3:52030400-52038200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:52030400-52039600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:52031600-52036000	Enhancers	K562	blood
28	chr3:52031800-52033000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:52031800-52033000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:52031800-52033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:52031800-52033000	Enhancers	HMEC	breast
32	chr3:52031800-52033000	Enhancers	NHEK	skin
33	chr3:52032000-52033000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:52032000-52033000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:52032200-52033000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:52032200-52035800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:52032400-52033000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:52032400-52035400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:52032400-52035400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:52032400-52035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:52032400-52035400	Weak transcription	Fetal Intestine Large	intestine
42	chr3:52032400-52035400	Weak transcription	Hela-S3	cervix
43	chr3:52032400-52035800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:52032400-52035800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:52032400-52035800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:52032400-52035800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:52032400-52035800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:52032400-52038600	Weak transcription	HUVEC	blood vessel
49	chr3:52032600-52035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:52032600-52035800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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