Variant report

Variant	rs12567934
Chromosome Location	chr1:227850056-227850057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227849383..227851144-chr1:227857842..227859420,2	K562	blood:
2	chr1:227770918..227773838-chr1:227849267..227851586,2	K562	blood:
3	chr1:227842682..227845099-chr1:227847635..227850326,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12564929	1.00[EUR][1000 genomes]
rs12565099	1.00[EUR][1000 genomes]
rs12565109	1.00[EUR][1000 genomes]
rs12565618	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565653	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12566390	1.00[EUR][1000 genomes]
rs12566716	1.00[EUR][1000 genomes]
rs12567084	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12567160	1.00[EUR][1000 genomes]
rs12568707	1.00[EUR][1000 genomes]
rs1323021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847912	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847929	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847948	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847987	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848160	1.00[EUR][1000 genomes]
rs16859962	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16860227	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17492440	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17492447	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2101862	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2313220	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34984248	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35703429	1.00[EUR][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59461077	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6665512	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090936	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090937	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090938	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090948	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090952	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090954	0.81[ASN][1000 genomes]
rs73090985	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090986	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090987	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73090994	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73091000	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73092607	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73092610	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7554851	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7554870	0.81[ASN][1000 genomes]
rs996226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr1:227829400-227859800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:227831800-227850200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr1:227831800-227851600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:227831800-227854600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr1:227831800-227864000	ZNF genes & repeats	Liver	Liver
8	chr1:227832000-227850200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr1:227832000-227854400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr1:227832200-227850600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:227832400-227850400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr1:227835000-227852200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:227835000-227852600	ZNF genes & repeats	Fetal Brain Female	brain
14	chr1:227836400-227852200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr1:227838600-227854400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:227841200-227852000	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr1:227841200-227852600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr1:227841200-227852800	ZNF genes & repeats	Brain Anterior Caudate	brain
19	chr1:227841600-227852600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
20	chr1:227843200-227851200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:227844600-227850800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:227846000-227851600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr1:227846800-227850400	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr1:227847000-227850200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr1:227847000-227850200	ZNF genes & repeats	Dnd41	blood
26	chr1:227847200-227852600	ZNF genes & repeats	Fetal Lung	lung
27	chr1:227847600-227852000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:227848400-227850600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:227848400-227850600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:227848400-227851400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
31	chr1:227848400-227852000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr1:227848600-227850400	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr1:227848600-227851400	ZNF genes & repeats	Left Ventricle	heart
34	chr1:227848600-227851400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr1:227848600-227852400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
36	chr1:227848600-227852400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr1:227848600-227853200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr1:227848800-227850200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr1:227848800-227851000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:227848800-227852600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr1:227848800-227853400	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr1:227849000-227850400	ZNF genes & repeats	Right Ventricle	heart
43	chr1:227849000-227850600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:227849000-227850800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr1:227849000-227851000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr1:227849000-227852400	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr1:227849000-227853000	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr1:227849200-227850800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
49	chr1:227849200-227851600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
50	chr1:227849400-227852600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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