Variant report

Variant	rs59695002
Chromosome Location	chr12:122355041-122355042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:122354541-122355168	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr12:122354564-122355211	A549	lung:	n/a	n/a
3	SPI1	chr12:122354604-122355077	HL-60	blood:	n/a	n/a
4	RAD21	chr12:122354640-122355090	A549	lung:	n/a	n/a
5	RAD21	chr12:122354554-122355165	A549	lung:	n/a	n/a
6	SMC3	chr12:122354440-122355193	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr12:122354525-122355207	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr12:122354647-122355043	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
2	chr12:122353848..122356586-chr12:122614343..122616936,2	MCF-7	breast:
3	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
4	chr12:122343793..122346484-chr12:122354637..122356922,2	MCF-7	breast:
5	chr12:122353628..122357829-chr12:122368964..122373628,4	MCF-7	breast:
6	chr12:122241012..122243645-chr12:122353946..122355842,2	MCF-7	breast:

No data

Variant related genes	Relation type
WDR66	TF binding region
ENSG00000239082	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000255856	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1824949	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2004863	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2004864	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2076860	0.87[EUR][1000 genomes]
rs2596142	0.80[EUR][1000 genomes]
rs3741581	0.87[EUR][1000 genomes]
rs4522209	0.93[EUR][1000 genomes]
rs55778445	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57298119	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58025403	0.84[EUR][1000 genomes]
rs58026220	0.87[EUR][1000 genomes]
rs58158474	0.87[EUR][1000 genomes]
rs58516770	0.84[EUR][1000 genomes]
rs58642707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59116149	0.84[EUR][1000 genomes]
rs59178789	0.84[EUR][1000 genomes]
rs60620185	0.87[EUR][1000 genomes]
rs6486792	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6486793	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7138299	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7138556	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7294535	0.87[EUR][1000 genomes]
rs7294829	0.84[EUR][1000 genomes]
rs7303779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314352	0.87[EUR][1000 genomes]
rs7964151	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs830125	0.87[EUR][1000 genomes]
rs872781	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
2	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
3	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:122331600-122355600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:122332400-122355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:122332400-122355600	Strong transcription	Fetal Intestine Small	intestine
10	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:122332600-122355400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:122332600-122355600	Strong transcription	Fetal Intestine Large	intestine
13	chr12:122332800-122355400	Strong transcription	Liver	Liver
14	chr12:122332800-122355600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:122333000-122356000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:122336400-122356000	Strong transcription	Adipose Nuclei	Adipose
17	chr12:122338000-122356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:122341000-122356000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:122341400-122355800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:122341600-122356000	Weak transcription	Fetal Heart	heart
21	chr12:122341600-122356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:122341800-122355600	Weak transcription	Stomach Mucosa	stomach
23	chr12:122342200-122356000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:122344000-122355800	Strong transcription	Brain Germinal Matrix	brain
25	chr12:122344200-122355800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:122344400-122356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:122345400-122356000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:122345600-122355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:122345600-122355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:122346200-122355800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122346600-122356000	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:122347000-122355600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:122347000-122355800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:122347200-122355600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:122347200-122356000	Weak transcription	Psoas Muscle	Psoas
36	chr12:122347800-122356000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:122347800-122356000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:122348000-122355800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:122348800-122355200	Strong transcription	Brain Cingulate Gyrus	brain
40	chr12:122349200-122355600	Strong transcription	Lung	lung
41	chr12:122349400-122356000	Weak transcription	Fetal Kidney	kidney
42	chr12:122350000-122355800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:122350000-122356000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122350000-122356200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:122350200-122355600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:122350600-122355800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:122350600-122355800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:122350600-122356000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:122351400-122355800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:122351800-122355600	Strong transcription	Left Ventricle	heart

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