Variant report

Variant	rs12110088
Chromosome Location	chr5:114863212-114863213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114857751..114862120-chr5:114862571..114865082,5	K562	blood:
2	chr5:114862091..114864890-chr5:114879646..114881556,3	MCF-7	breast:
3	chr5:114860835..114862684-chr5:114863168..114864729,2	MCF-7	breast:
4	chr5:114862754..114866326-chr5:114878456..114881611,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12110084	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17137912	1.00[AFR][1000 genomes]
rs17137925	1.00[YRI][hapmap]
rs17137932	1.00[AFR][1000 genomes]
rs17137960	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17137963	1.00[AFR][1000 genomes]
rs17138022	1.00[YRI][hapmap]
rs17138041	1.00[YRI][hapmap]
rs58631560	1.00[AFR][1000 genomes]
rs59021008	1.00[AFR][1000 genomes]
rs61471519	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114854600-114870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:114855400-114863600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:114856800-114864200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:114856800-114871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114857600-114866400	Strong transcription	Dnd41	blood
6	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:114858200-114863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
10	chr5:114859000-114863400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:114859000-114863800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:114859200-114866200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:114859200-114867200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:114859400-114864400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:114859600-114863400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:114860000-114864800	Strong transcription	Fetal Intestine Large	intestine
17	chr5:114860600-114863400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr5:114860800-114864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:114860800-114874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
21	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
22	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
24	chr5:114861200-114863400	Weak transcription	Right Ventricle	heart
25	chr5:114861200-114864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:114861200-114864600	Weak transcription	Brain Germinal Matrix	brain
27	chr5:114861200-114865800	Weak transcription	Primary T cells from cord blood	blood
28	chr5:114861200-114871200	Weak transcription	Fetal Lung	lung
29	chr5:114861200-114871600	Weak transcription	HSMMtube	muscle
30	chr5:114861200-114872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:114861200-114874200	Weak transcription	Aorta	Aorta
32	chr5:114861200-114875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
34	chr5:114861400-114864000	Weak transcription	Lung	lung
35	chr5:114861400-114864800	Weak transcription	HSMM	muscle
36	chr5:114861400-114866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:114861400-114866200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:114861400-114866200	Weak transcription	Osteobl	bone
39	chr5:114861400-114867200	Weak transcription	K562	blood
40	chr5:114861400-114868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:114861400-114869400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:114861400-114871200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:114861400-114871200	Weak transcription	Fetal Kidney	kidney
44	chr5:114861400-114871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:114861400-114874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:114861400-114874600	Weak transcription	Thymus	Thymus
47	chr5:114861400-114875400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:114861600-114863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:114861600-114867800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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