Variant report

Variant	rs12578516
Chromosome Location	chr12:57863388-57863389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57861880..57866210-chr12:57903608..57907475,3	K562	blood:
2	chr12:57851014..57853081-chr12:57861682..57863559,2	K562	blood:
3	chr12:57858695..57861784-chr12:57862109..57867144,5	K562	blood:
4	chr12:57863342..57866223-chr12:57872034..57874836,2	MCF-7	breast:
5	chr12:57855507..57859311-chr12:57860287..57863469,4	MCF-7	breast:
6	chr12:57863008..57865663-chr12:57869026..57873424,5	K562	blood:

Variant related genes	Relation type
ENSG00000111087	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000123329	Chromatin interaction
ENSG00000252865	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs774895	1.00[CHB][hapmap]
rs7974137	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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
14	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv559035	chr12:57860972-57870648	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57856600-57865800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:57856800-57863800	Weak transcription	Fetal Kidney	kidney
3	chr12:57856800-57864400	Weak transcription	Liver	Liver
4	chr12:57856800-57864800	Strong transcription	Fetal Lung	lung
5	chr12:57856800-57865000	Weak transcription	Brain Substantia Nigra	brain
6	chr12:57856800-57865600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:57856800-57866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:57857000-57864200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:57857000-57865800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:57857000-57868400	Weak transcription	Dnd41	blood
11	chr12:57857000-57869400	Weak transcription	Ovary	ovary
12	chr12:57857200-57866200	Strong transcription	Fetal Stomach	stomach
13	chr12:57857400-57865800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:57857800-57865400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:57858600-57864400	Weak transcription	Colonic Mucosa	Colon
16	chr12:57859400-57865800	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:57859600-57870800	Weak transcription	A549	lung
18	chr12:57859800-57864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:57860600-57866200	Strong transcription	Primary T cells from cord blood	blood
20	chr12:57861000-57863800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:57861000-57864000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:57861000-57864000	Strong transcription	Spleen	Spleen
23	chr12:57861000-57864200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:57861000-57868000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:57861200-57868600	Strong transcription	Fetal Thymus	thymus
26	chr12:57861400-57868400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:57861400-57868600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:57861800-57863600	Strong transcription	Primary B cells from cord blood	blood
29	chr12:57861800-57865600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:57861800-57869600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:57862000-57863600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:57862600-57868200	Strong transcription	Thymus	Thymus
33	chr12:57862800-57863600	Strong transcription	GM12878-XiMat	blood
34	chr12:57862800-57863600	Enhancers	K562	blood
35	chr12:57862800-57864000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:57862800-57864200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:57862800-57865000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:57862800-57868400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:57862800-57869400	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:57862800-57870400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
41	chr12:57863000-57863400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:57863000-57864200	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr12:57863000-57864400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr12:57863000-57864400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:57863000-57864600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:57863000-57864800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:57863000-57865000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr12:57863000-57865200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:57863000-57865400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:57863000-57865600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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