Variant report

Variant	rs12322636
Chromosome Location	chr12:57858088-57858089
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57858065-57858230	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr12:57857419-57858089	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57856465..57858334-chr12:57867233..57870220,2	MCF-7	breast:
2	chr12:57849885..57859254-chr12:57908711..57915821,16	K562	blood:
3	chr12:57852034..57858739-chr12:57911478..57917144,8	MCF-7	breast:
4	chr12:57856862..57858591-chr12:57918787..57921199,2	MCF-7	breast:
5	chr12:57850154..57858218-chr12:57910899..57919538,20	K562	blood:
6	chr12:57855242..57858206-chr12:57882251..57883801,2	K562	blood:

No data

Variant related genes	Relation type
GLI1	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175197	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10083191	1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[AMR][1000 genomes]
rs11172213	1.00[AMR][1000 genomes]
rs12296737	1.00[AMR][1000 genomes]
rs12310527	1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12314262	1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	1.00[AMR][1000 genomes]
rs12317318	1.00[AMR][1000 genomes]
rs12317897	1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	1.00[AMR][1000 genomes]
rs12322158	1.00[AMR][1000 genomes]
rs12322514	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs9971718	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv8974	chr12:57852779-57865881	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57856200-57863200	Weak transcription	Gastric	stomach
2	chr12:57856600-57858200	Enhancers	HSMMtube	muscle
3	chr12:57856600-57858600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:57856600-57858800	Enhancers	GM12878-XiMat	blood
5	chr12:57856600-57859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:57856600-57860600	Weak transcription	Primary T cells from cord blood	blood
7	chr12:57856600-57863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:57856600-57865800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:57856800-57861000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:57856800-57861000	Weak transcription	Thymus	Thymus
11	chr12:57856800-57861000	Weak transcription	Spleen	Spleen
12	chr12:57856800-57863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:57856800-57863000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:57856800-57863800	Weak transcription	Fetal Kidney	kidney
15	chr12:57856800-57864400	Weak transcription	Liver	Liver
16	chr12:57856800-57864800	Strong transcription	Fetal Lung	lung
17	chr12:57856800-57865000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:57856800-57865600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:57856800-57866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:57857000-57859400	Weak transcription	K562	blood
21	chr12:57857000-57861000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:57857000-57861200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:57857000-57861200	Weak transcription	Fetal Thymus	thymus
24	chr12:57857000-57861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:57857000-57861800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:57857000-57862800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:57857000-57862800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:57857000-57863000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:57857000-57863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:57857000-57863000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:57857000-57863000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:57857000-57863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:57857000-57863200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:57857000-57864200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:57857000-57865800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:57857000-57868400	Weak transcription	Dnd41	blood
37	chr12:57857000-57869400	Weak transcription	Ovary	ovary
38	chr12:57857200-57858400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:57857200-57859400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:57857200-57860600	Weak transcription	Primary B cells from cord blood	blood
41	chr12:57857200-57862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:57857200-57866200	Strong transcription	Fetal Stomach	stomach
43	chr12:57857400-57858200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr12:57857400-57858200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr12:57857400-57859600	Strong transcription	A549	lung
46	chr12:57857400-57865800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:57857800-57865400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:57858000-57858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:57858000-57861800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:57858000-57863000	Weak transcription	Duodenum Mucosa	Duodenum

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