Variant report

Variant	rs1144030
Chromosome Location	chr12:122332494-122332495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:122332420-122332570	HVMF	connective:	n/a	n/a
2	RAD21	chr12:122332426-122333027	HCT-116	colon:	n/a	n/a
3	CTCF	chr12:122332106-122333162	A549	lung:	n/a	n/a
4	RAD21	chr12:122332465-122332960	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:122332380-122332530	HMEC	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122331642..122333879-chr12:122334386..122336333,3	MCF-7	breast:
2	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
3	chr12:122331116..122333896-chr12:122352806..122354784,2	MCF-7	breast:
4	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
5	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
6	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
7	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
8	chr12:122214009..122214701-chr12:122332315..122333181,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD9	TF binding region
ENSG00000139718	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1154517	0.83[AMR][1000 genomes]
rs1154519	0.83[AMR][1000 genomes]
rs1168658	0.84[YRI][hapmap]
rs1168662	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1177573	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1627963	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1667581	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1678958	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1678968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1720033	0.84[YRI][hapmap]
rs1720037	0.89[YRI][hapmap]
rs1720069	0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2620342	0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2707064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs483416	0.84[YRI][hapmap]
rs830128	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
2	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:122328200-122332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:122328200-122332800	Weak transcription	Fetal Lung	lung
9	chr12:122328200-122333000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:122328200-122333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:122328200-122335800	Weak transcription	Psoas Muscle	Psoas
12	chr12:122328200-122339200	Weak transcription	Right Atrium	heart
13	chr12:122328200-122340000	Weak transcription	Fetal Heart	heart
14	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
15	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
16	chr12:122328600-122332800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:122328600-122332800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:122328600-122333400	Weak transcription	Ovary	ovary
19	chr12:122328800-122332600	Weak transcription	Colonic Mucosa	Colon
20	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:122329800-122332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:122329800-122344600	Strong transcription	Primary T cells from cord blood	blood
24	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122330200-122333000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:122330200-122334400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:122330600-122332600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:122330600-122332600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:122330600-122333200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:122330600-122333200	Genic enhancers	Fetal Thymus	thymus
32	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:122330800-122332600	Enhancers	Liver	Liver
34	chr12:122330800-122332600	Enhancers	Thymus	Thymus
35	chr12:122330800-122332800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:122330800-122332800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:122330800-122332800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:122330800-122332800	Genic enhancers	NHEK	skin
39	chr12:122330800-122333000	Enhancers	HepG2	liver
40	chr12:122331000-122332600	Enhancers	Pancreas	Pancrea
41	chr12:122331000-122332800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:122331000-122332800	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr12:122331000-122332800	Genic enhancers	Gastric	stomach
44	chr12:122331000-122332800	Enhancers	Stomach Mucosa	stomach
45	chr12:122331000-122332800	Genic enhancers	NHLF	lung
46	chr12:122331000-122333000	Genic enhancers	Brain Cingulate Gyrus	brain
47	chr12:122331000-122333800	Strong transcription	Right Ventricle	heart
48	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:122331200-122332800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:122331200-122332800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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