Variant report

Variant	rs72632836
Chromosome Location	chr1:227945366-227945367
allele	C/T
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	chr1:227926788..227928510-chr1:227944634..227947567,2	MCF-7	breast:
2	chr1:227944474..227946516-chr1:228127525..228129421,2	K562	blood:
3	chr1:227945049..227947627-chr1:228289344..228291070,2	MCF-7	breast:
4	chr1:227929538..227931796-chr1:227944402..227947337,2	MCF-7	breast:
5	chr1:227921390..227925129-chr1:227944675..227947317,3	MCF-7	breast:
6	chr1:227943509..227946452-chr1:227956014..227958936,2	K562	blood:
7	chr1:227914203..227917411-chr1:227943928..227946882,3	MCF-7	breast:
8	chr1:227945350..227947545-chr1:228134619..228136982,2	MCF-7	breast:
9	chr1:227917727..227921370-chr1:227944241..227947517,4	MCF-7	breast:
10	chr1:227920395..227923971-chr1:227944832..227949362,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081692	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000143816	Chromatin interaction
ENSG00000264483	Chromatin interaction
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12064596	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093611	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236358	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273938	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57892813	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61521615	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674275	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688900	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6695545	0.82[AMR][1000 genomes]
rs66969031	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67502955	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72632835	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:227924200-227946800	Weak transcription	HUVEC	blood vessel
2	chr1:227924200-227955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:227930200-227945600	Weak transcription	NH-A	brain
4	chr1:227932800-227947200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:227933000-227946400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:227934000-227948800	Strong transcription	Primary T cells from cord blood	blood
7	chr1:227934200-227945400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:227934400-227950000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:227934800-227950200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:227934800-227950400	Strong transcription	Fetal Intestine Small	intestine
11	chr1:227935000-227949600	Strong transcription	Dnd41	blood
12	chr1:227935200-227949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:227936400-227946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:227936400-227946600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:227937200-227949600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:227937400-227946000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:227937600-227946000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:227938000-227950200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:227938400-227946800	Weak transcription	HMEC	breast
20	chr1:227938600-227946800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:227938600-227950400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:227939000-227945400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:227939200-227946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:227939200-227946600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:227939200-227946800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:227939200-227947000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:227939400-227945600	Weak transcription	Liver	Liver
28	chr1:227939400-227945800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:227939400-227946200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:227939400-227946800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:227939400-227946800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:227939600-227945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:227940000-227945800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:227940400-227950000	Strong transcription	HepG2	liver
35	chr1:227940800-227949800	Strong transcription	Thymus	Thymus
36	chr1:227941400-227946000	Weak transcription	Fetal Brain Female	brain
37	chr1:227941600-227947000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:227941800-227945800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:227941800-227946800	Weak transcription	Fetal Brain Male	brain
40	chr1:227942000-227950000	Weak transcription	Small Intestine	intestine
41	chr1:227942200-227946000	Weak transcription	NHLF	lung
42	chr1:227942200-227946200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:227942200-227946600	Weak transcription	Osteobl	bone
44	chr1:227942200-227946800	Weak transcription	Colonic Mucosa	Colon
45	chr1:227942200-227947000	Weak transcription	Pancreas	Pancrea
46	chr1:227942200-227948600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:227942400-227945600	Weak transcription	Brain Angular Gyrus	brain
48	chr1:227942400-227945600	Weak transcription	Brain Substantia Nigra	brain
49	chr1:227942400-227945800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:227942400-227946000	Weak transcription	Brain Hippocampus Middle	brain

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