Variant report

Variant	rs61935704
Chromosome Location	chr12:57887767-57887768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57885427..57888291-chr12:57914860..57916782,2	MCF-7	breast:
2	chr12:57879869..57888452-chr12:57905809..57918310,36	K562	blood:
3	chr12:57879207..57888227-chr12:57906247..57918451,36	K562	blood:

Variant related genes	Relation type
ENSG00000166986	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000264046	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs474058	1.00[AMR][1000 genomes]
rs527226	1.00[AMR][1000 genomes]
rs532993	1.00[AMR][1000 genomes]
rs537161	1.00[AMR][1000 genomes]
rs569092	1.00[AMR][1000 genomes]
rs775247	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
14	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic 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	126 gene(s)	inside rSNPs	diseases
16	esv3364469	chr12:57886335-57888783	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
17	nsv899120	chr12:57886609-57921188	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57882800-57905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:57883000-57910600	Weak transcription	Right Atrium	heart
3	chr12:57883200-57890000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:57883200-57893600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:57883200-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:57883200-57900600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:57883200-57900800	Strong transcription	Thymus	Thymus
8	chr12:57883200-57902400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:57883200-57911200	Strong transcription	Fetal Intestine Small	intestine
10	chr12:57883400-57888200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:57883400-57888200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:57883400-57888200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:57883400-57888200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:57883400-57888200	Strong transcription	Fetal Thymus	thymus
15	chr12:57883400-57891200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:57883400-57900600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:57883400-57900600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:57883400-57900600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:57883400-57900600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:57883400-57900600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:57883400-57900600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:57883400-57900800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:57883400-57903000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:57883600-57888200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:57883600-57888200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:57883800-57888200	Strong transcription	Primary T cells from cord blood	blood
27	chr12:57883800-57888200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:57883800-57888200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:57883800-57899800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:57884000-57900600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:57884000-57900600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:57884000-57902400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:57884000-57903200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:57884400-57888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:57884400-57894000	Weak transcription	Psoas Muscle	Psoas
36	chr12:57884400-57900800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:57885400-57890800	Weak transcription	Fetal Brain Male	brain
38	chr12:57885600-57891200	Weak transcription	Aorta	Aorta
39	chr12:57885600-57891200	Weak transcription	Fetal Kidney	kidney
40	chr12:57885600-57891800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:57885600-57893800	Weak transcription	Small Intestine	intestine
42	chr12:57885600-57911200	Weak transcription	Fetal Heart	heart
43	chr12:57885800-57890600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:57885800-57891800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr12:57885800-57893600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:57886200-57890600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:57886600-57888000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr12:57886800-57888800	Weak transcription	Spleen	Spleen
49	chr12:57886800-57889800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:57886800-57890400	Weak transcription	Gastric	stomach

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