Variant report

Variant	rs563029730
Chromosome Location	chr12:11180466-11180467
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv8289	chr12:11144397-11222359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv898780	chr12:11144994-11251560	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3503763	chr12:11161162-11275828	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3503774	chr12:11161325-11275786	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1038709	chr12:11165117-11283834	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv8805	chr12:11166558-11222811	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3383115	chr12:11166848-11222150	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv1804289	chr12:11166879-11294110	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv7343	chr12:11167352-11223285	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv3389107	chr12:11167826-11228448	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	esv3347626	chr12:11167851-11223280	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv8917	chr12:11168232-11293747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	esv1804220	chr12:11168557-11243887	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1827548	chr12:11168557-11277324	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv3501349	chr12:11169700-11225559	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv3501348	chr12:11169763-11225525	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	esv3501350	chr12:11169763-11225525	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	esv3432938	chr12:11169783-11225495	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv12327	chr12:11170563-11192346	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	esv2760999	chr12:11170837-11276036	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	esv1810077	chr12:11170992-11252510	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	esv6198	chr12:11171179-11227144	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	esv6546	chr12:11172416-11228413	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
29	nsv973027	chr12:11173768-11184735	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
30	esv1835477	chr12:11174302-11298269	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	esv1821385	chr12:11175125-11251776	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv870021	chr12:11175220-11252325	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	esv3489126	chr12:11175760-11202498	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
34	esv3489127	chr12:11175760-11202498	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
35	esv3445798	chr12:11179972-11211033	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
3	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:11159400-11182000	Weak transcription	NHEK	skin
5	chr12:11165000-11180800	Weak transcription	HSMM	muscle
6	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:11167400-11201800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:11168800-11201000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:11168800-11205800	Weak transcription	Osteobl	bone
12	chr12:11169400-11180800	Weak transcription	Right Ventricle	heart
13	chr12:11169400-11182000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:11169400-11182400	Weak transcription	Spleen	Spleen
15	chr12:11169400-11201600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:11169400-11219400	Weak transcription	HUVEC	blood vessel
17	chr12:11169800-11198800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:11171000-11225600	Weak transcription	HSMMtube	muscle
19	chr12:11172000-11181400	Weak transcription	Psoas Muscle	Psoas
20	chr12:11174400-11200800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:11174600-11192000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:11175000-11204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:11175800-11182000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:11176400-11203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:11176400-11211200	Weak transcription	Aorta	Aorta
26	chr12:11177000-11200200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:11177400-11187000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:11177600-11181000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:11178200-11181200	Strong transcription	Primary B cells from cord blood	blood
30	chr12:11178200-11181200	Strong transcription	Liver	Liver
31	chr12:11178400-11201000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:11178400-11201000	Weak transcription	Brain Anterior Caudate	brain
33	chr12:11178400-11203400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:11178600-11181000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:11178600-11181200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:11178600-11181600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:11178600-11191400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:11178800-11181000	Strong transcription	Left Ventricle	heart
39	chr12:11178800-11181600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:11178800-11197400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:11179000-11180800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:11179000-11181200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:11179000-11181400	Weak transcription	NH-A	brain
44	chr12:11179000-11181600	Strong transcription	Fetal Thymus	thymus
45	chr12:11179000-11185600	Weak transcription	Ovary	ovary
46	chr12:11179000-11190000	Weak transcription	Fetal Brain Female	brain
47	chr12:11179000-11191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:11179000-11195200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:11179000-11198200	Weak transcription	Placenta	Placenta
50	chr12:11179000-11201000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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