Variant report

Variant	rs534691114
Chromosome Location	chr12:57861371-57861372
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57855142..57857395-chr12:57860962..57863336,2	K562	blood:
2	chr12:57855507..57859311-chr12:57860287..57863469,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111087	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57856200-57863200	Weak transcription	Gastric	stomach
2	chr12:57856600-57863200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:57856600-57865800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:57856800-57863000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:57856800-57863000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:57856800-57863800	Weak transcription	Fetal Kidney	kidney
7	chr12:57856800-57864400	Weak transcription	Liver	Liver
8	chr12:57856800-57864800	Strong transcription	Fetal Lung	lung
9	chr12:57856800-57865000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:57856800-57865600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:57856800-57866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:57857000-57861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:57857000-57861800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:57857000-57862800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:57857000-57862800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:57857000-57863000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:57857000-57863000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:57857000-57863000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:57857000-57863000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57857000-57863000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:57857000-57863200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:57857000-57864200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:57857000-57865800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:57857000-57868400	Weak transcription	Dnd41	blood
25	chr12:57857000-57869400	Weak transcription	Ovary	ovary
26	chr12:57857200-57862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:57857200-57866200	Strong transcription	Fetal Stomach	stomach
28	chr12:57857400-57865800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:57857800-57865400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:57858000-57861800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:57858000-57863000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:57858000-57863000	Strong transcription	Fetal Intestine Small	intestine
33	chr12:57858200-57861400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:57858600-57861400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr12:57858600-57864400	Weak transcription	Colonic Mucosa	Colon
36	chr12:57859400-57861800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:57859400-57865800	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:57859600-57870800	Weak transcription	A549	lung
39	chr12:57859800-57861600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:57859800-57861600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:57859800-57862800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:57859800-57864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:57860000-57862800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:57860000-57863000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:57860200-57863200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:57860600-57861400	Strong transcription	Primary B cells from cord blood	blood
47	chr12:57860600-57866200	Strong transcription	Primary T cells from cord blood	blood
48	chr12:57860800-57862000	Enhancers	GM12878-XiMat	blood
49	chr12:57861000-57861800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:57861000-57862200	Strong transcription	Thymus	Thymus

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