Variant report

Variant	rs200307176
Chromosome Location	chr12:66529905-66529906
allele	-/ATTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66524156..66526085-chr12:66529096..66530644,2	K562	blood:
2	chr12:66523605..66525489-chr12:66527409..66530193,2	MCF-7	breast:
3	chr12:66529650..66532056-chr12:66539532..66541211,2	MCF-7	breast:
4	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:

Variant related genes	Relation type
ENSG00000139233	Chromatin interaction
ENSG00000239335	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1009248	chr12:66525948-66530263	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2607781	chr12:66526818-66530397	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3488297	chr12:66527270-66530148	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3529632	chr12:66527309-66530299	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv8872	chr12:66527383-66530133	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2318656	chr12:66527471-66530119	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3488319	chr12:66527527-66529969	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3529631	chr12:66527543-66529986	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3529628	chr12:66527547-66529989	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3529630	chr12:66527569-66529909	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3488274	chr12:66527574-66529947	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3488286	chr12:66527577-66529916	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3529627	chr12:66527584-66529933	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv5264	chr12:66527591-66529969	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3529633	chr12:66527597-66529929	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv498795	chr12:66527635-66530378	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv2067896	chr12:66529905-66529909	Weak transcription Strong transcription	Chromatin interactive region	2 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	chr12:66525000-66531200	Weak transcription	Lung	lung
2	chr12:66525000-66533200	Weak transcription	Gastric	stomach
3	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
4	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
5	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
6	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
7	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
13	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:66525400-66530200	Weak transcription	Ovary	ovary
15	chr12:66525400-66533200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:66525400-66533200	Weak transcription	Spleen	Spleen
17	chr12:66525400-66533400	Weak transcription	Aorta	Aorta
18	chr12:66525400-66533400	Weak transcription	Fetal Brain Male	brain
19	chr12:66525400-66534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:66525600-66530000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:66525600-66530000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:66525600-66530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:66525600-66530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:66525600-66530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:66525600-66530000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:66525600-66530000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:66525600-66530000	Weak transcription	Brain Anterior Caudate	brain
29	chr12:66525600-66530000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:66525600-66530000	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:66525600-66530000	Weak transcription	Fetal Brain Female	brain
32	chr12:66525600-66530000	Weak transcription	Fetal Thymus	thymus
33	chr12:66525600-66530000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:66525600-66530000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:66525600-66531800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:66525600-66533200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:66525600-66533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:66525600-66533400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:66525600-66533600	Weak transcription	Right Ventricle	heart
40	chr12:66525600-66536000	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:66525600-66536400	Weak transcription	Stomach Mucosa	stomach
42	chr12:66525600-66549000	Weak transcription	Colonic Mucosa	Colon
43	chr12:66525600-66552400	Weak transcription	Brain Angular Gyrus	brain
44	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:66525800-66530000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:66525800-66532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:66525800-66533400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:66526000-66530000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:66526000-66533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:66526200-66530000	Weak transcription	Primary B cells from cord blood	blood

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