Variant report

Variant	rs722457
Chromosome Location	chr12:8204489-8204490
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8202748..8205548-chr12:8227936..8230640,2	K562	blood:
2	chr12:8197273..8200175-chr12:8203103..8204631,2	K562	blood:
3	chr12:8185836..8188406-chr12:8203595..8205648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065970	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10744118	1.00[CHB][hapmap]
rs11057146	1.00[CHB][hapmap]
rs17728579	1.00[CHB][hapmap]
rs4242904	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8191600-8205600	Strong transcription	Fetal Intestine Small	intestine
2	chr12:8191800-8208400	Strong transcription	Dnd41	blood
3	chr12:8192000-8208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:8192000-8208200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:8192000-8208600	Strong transcription	Fetal Stomach	stomach
6	chr12:8192000-8211000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:8192200-8207600	Strong transcription	Placenta	Placenta
8	chr12:8192200-8207800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr12:8192200-8208000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:8192200-8208000	Strong transcription	Fetal Lung	lung
11	chr12:8192200-8208200	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:8192200-8208200	Strong transcription	Fetal Intestine Large	intestine
13	chr12:8192200-8208400	Strong transcription	Liver	Liver
14	chr12:8192200-8208600	Strong transcription	Primary T cells from cord blood	blood
15	chr12:8192400-8205000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:8192400-8205200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:8192400-8206200	Strong transcription	Brain Angular Gyrus	brain
18	chr12:8192400-8206800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:8192400-8207600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:8192400-8208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:8192400-8208000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:8192400-8208000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:8192400-8208200	Strong transcription	Fetal Thymus	thymus
24	chr12:8192400-8208400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:8192400-8208400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:8192400-8208400	Strong transcription	Brain Hippocampus Middle	brain
27	chr12:8192400-8208400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr12:8192400-8208400	Strong transcription	Osteobl	bone
29	chr12:8192400-8208600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:8192400-8209200	Strong transcription	Adipose Nuclei	Adipose
31	chr12:8192400-8211000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:8192600-8208200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:8192600-8208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:8192600-8208400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:8192600-8208400	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:8192600-8208400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:8192600-8208600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:8192600-8212400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:8192800-8208400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:8192800-8208400	Strong transcription	Left Ventricle	heart
41	chr12:8192800-8208400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:8193000-8206000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:8193200-8208400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:8193400-8208400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:8196400-8205200	Weak transcription	Fetal Brain Male	brain
46	chr12:8197600-8205400	Weak transcription	Hela-S3	cervix
47	chr12:8198400-8208400	Strong transcription	A549	lung
48	chr12:8198800-8208400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:8199000-8208000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:8199000-8208000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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