Variant report

Variant	rs2483712
Chromosome Location	chr1:154325149-154325150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154321735..154323249-chr1:154324165..154326087,2	MCF-7	breast:
2	chr1:154325023..154326724-chr1:154450877..154451767,6	MCF-7	breast:
3	chr1:154296678..154299096-chr1:154324754..154327396,2	K562	blood:
4	chr1:154323094..154325358-chr1:154357953..154361791,3	K562	blood:
5	chr1:154314633..154318404-chr1:154324088..154325783,3	K562	blood:
6	chr1:154190008..154193329-chr1:154323255..154327327,4	K562	blood:
7	chr1:154296558..154298616-chr1:154325091..154326672,3	MCF-7	breast:
8	chr1:154320515..154323145-chr1:154323844..154326958,4	K562	blood:
9	chr1:154192255..154193961-chr1:154323093..154325348,2	MCF-7	breast:
10	chr1:154324756..154327782-chr1:154376990..154379231,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228013	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10908831	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11265604	0.90[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs11578607	0.82[EUR][1000 genomes]
rs11581043	0.82[EUR][1000 genomes]
rs1194584	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1194585	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194586	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194587	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194607	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1194608	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12029292	0.91[ASN][1000 genomes]
rs12033720	0.85[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12121085	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1685606	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1685634	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1685635	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1760794	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1760795	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1889312	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2633433	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28409746	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34870927	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4103781	0.82[EUR][1000 genomes]
rs72696290	0.89[ASN][1000 genomes]
rs7514026	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 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	chr1:154312200-154325200	Weak transcription	Fetal Kidney	kidney
2	chr1:154321800-154325400	Weak transcription	Aorta	Aorta
3	chr1:154323800-154325200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:154323800-154325800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:154324000-154325200	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr1:154324000-154325200	Flanking Active TSS	HepG2	liver
7	chr1:154324200-154326000	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:154324200-154326000	Weak transcription	A549	lung
9	chr1:154324200-154326200	Enhancers	Spleen	Spleen
10	chr1:154324400-154326200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:154324600-154325200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:154324600-154325200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:154324600-154325200	Enhancers	Esophagus	oesophagus
14	chr1:154324600-154325200	Enhancers	Lung	lung
15	chr1:154324600-154325200	Enhancers	Small Intestine	intestine
16	chr1:154324600-154325200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr1:154324600-154325600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr1:154324600-154325600	Flanking Active TSS	Fetal Brain Female	brain
19	chr1:154324600-154325800	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr1:154324600-154325800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:154324600-154325800	Flanking Active TSS	Stomach Mucosa	stomach
22	chr1:154324600-154326000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:154324600-154326000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr1:154324600-154326200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr1:154324600-154326200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr1:154324600-154326200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:154324600-154326200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:154324600-154326200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:154324600-154326200	Flanking Active TSS	K562	blood
30	chr1:154324800-154325200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:154324800-154325200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:154324800-154325200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:154324800-154325200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:154324800-154325200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr1:154324800-154325200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:154324800-154325200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:154324800-154325200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:154324800-154325200	Flanking Active TSS	Thymus	Thymus
39	chr1:154324800-154325400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:154324800-154325400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:154324800-154325400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:154324800-154325400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr1:154324800-154325400	Flanking Active TSS	Fetal Heart	heart
44	chr1:154324800-154325400	Flanking Active TSS	Right Ventricle	heart
45	chr1:154324800-154325400	Flanking Active TSS	HSMM	muscle
46	chr1:154324800-154325400	Flanking Active TSS	HSMMtube	muscle
47	chr1:154324800-154325600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr1:154324800-154325600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:154324800-154325600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
50	chr1:154324800-154325600	Bivalent Enhancer	Dnd41	blood

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