Variant report

Variant	rs4077984
Chromosome Location	chr12:122066357-122066358
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122014421..122021664-chr12:122061311..122067896,12	MCF-7	breast:
2	chr12:121985360..121988174-chr12:122064004..122066912,3	K562	blood:
3	chr12:121974674..121977649-chr12:122063134..122066400,4	MCF-7	breast:
4	chr12:121975167..121976771-chr12:122063978..122066637,2	K562	blood:
5	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
6	chr12:122064758..122066822-chr12:122089158..122090995,2	K562	blood:
7	chr12:122046689..122049381-chr12:122065131..122067793,3	K562	blood:
8	chr12:121985158..121989788-chr12:122063533..122067478,5	K562	blood:
9	chr12:122063686..122066969-chr12:122326410..122329127,3	K562	blood:
10	chr12:122062970..122066467-chr12:122109966..122112755,3	MCF-7	breast:
11	chr12:122065145..122067836-chr12:122450179..122451724,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000256742	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000139714	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11065581	1.00[CHD][hapmap]
rs11834237	1.00[EUR][1000 genomes]
rs11835830	1.00[EUR][1000 genomes]
rs12578883	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12579058	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579896	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580910	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4511320	1.00[CHD][hapmap]
rs55642824	1.00[EUR][1000 genomes]
rs59918170	1.00[EUR][1000 genomes]
rs61324565	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134768	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7135040	1.00[EUR][1000 genomes]
rs7299610	1.00[EUR][1000 genomes]
rs7309634	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122063200-122066400	Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr12:122063800-122066800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:122064000-122066400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:122064000-122066400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:122064000-122066800	Active TSS	Small Intestine	intestine
6	chr12:122064200-122066600	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr12:122064200-122067200	Active TSS	GM12878-XiMat	blood
8	chr12:122064600-122066800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:122064800-122066400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr12:122064800-122066600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:122064800-122066600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:122064800-122066800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:122065000-122068400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:122065200-122066400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122065200-122066400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr12:122065200-122066400	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr12:122065200-122066400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr12:122065200-122066400	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr12:122065200-122066600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:122065200-122066600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:122065200-122066800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:122065200-122066800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr12:122065200-122066800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr12:122065200-122066800	Flanking Active TSS	K562	blood
25	chr12:122065200-122067000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:122065200-122067800	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr12:122065200-122068000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:122065400-122066400	Flanking Active TSS	NH-A	brain
29	chr12:122065400-122066600	Flanking Active TSS	Fetal Stomach	stomach
30	chr12:122065400-122066600	Flanking Active TSS	Dnd41	blood
31	chr12:122065400-122066600	Flanking Active TSS	HUVEC	blood vessel
32	chr12:122065400-122066800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:122065400-122066800	Flanking Active TSS	Fetal Lung	lung
34	chr12:122065400-122066800	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:122065400-122067200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
37	chr12:122065600-122066400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:122065600-122066400	Flanking Active TSS	Osteobl	bone
39	chr12:122065600-122066800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:122065600-122066800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:122065600-122066800	Enhancers	Fetal Heart	heart
42	chr12:122065600-122066800	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr12:122065600-122066800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:122065600-122066800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr12:122065600-122068600	Weak transcription	Ovary	ovary
46	chr12:122065600-122069600	Enhancers	Spleen	Spleen
47	chr12:122065600-122071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:122065800-122066400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr12:122065800-122066400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:122065800-122066400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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