Variant report

Variant	rs59485640
Chromosome Location	chr12:118856651-118856652
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118834411..118836226-chr12:118855640..118858351,2	K562	blood:
2	chr12:118573808..118576071-chr12:118855410..118857691,2	K562	blood:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56097381	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56818943	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57261188	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61388284	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
4	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:118836200-118856800	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:118847400-118857000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:118848800-118857400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr12:118850400-118860400	Weak transcription	Fetal Brain Male	brain
9	chr12:118851400-118857200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:118852200-118860200	Weak transcription	NHDF-Ad	bronchial
11	chr12:118852600-118864600	Weak transcription	HSMMtube	muscle
12	chr12:118852800-118857000	Weak transcription	K562	blood
13	chr12:118853200-118865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:118853400-118859800	Weak transcription	HepG2	liver
15	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:118854000-118857400	Weak transcription	Fetal Kidney	kidney
17	chr12:118854000-118857600	Weak transcription	Fetal Brain Female	brain
18	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:118854200-118857800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:118854200-118858000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:118854200-118860200	Weak transcription	NH-A	brain
22	chr12:118854200-118864600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:118854400-118860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:118854400-118867600	Weak transcription	Gastric	stomach
25	chr12:118854600-118859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:118854600-118864800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
28	chr12:118854600-118867600	Weak transcription	Ovary	ovary
29	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:118854800-118857200	Weak transcription	Spleen	Spleen
32	chr12:118854800-118857600	Weak transcription	Brain Germinal Matrix	brain
33	chr12:118854800-118858000	Weak transcription	Thymus	Thymus
34	chr12:118854800-118858000	Weak transcription	HSMM	muscle
35	chr12:118854800-118858400	Weak transcription	GM12878-XiMat	blood
36	chr12:118854800-118859600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:118854800-118860000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr12:118854800-118860400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:118854800-118861600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:118854800-118865400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:118854800-118865400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:118854800-118865600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
44	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:118855000-118857400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:118855000-118857600	Weak transcription	Fetal Intestine Small	intestine
48	chr12:118855000-118858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:118855000-118858200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:118855000-118858600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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