Variant report

Variant	rs56178989
Chromosome Location	chr12:121161723-121161724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121148319..121151196-chr12:121161623..121163655,2	K562	blood:
2	chr12:121146305..121152610-chr12:121160959..121168394,8	MCF-7	breast:
3	chr12:121159870..121162504-chr12:121416031..121417915,2	K562	blood:

Variant related genes	Relation type
ENSG00000135100	Chromatin interaction
ENSG00000241388	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55645249	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56183824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56231343	1.00[AFR][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56401401	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58235352	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73214885	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73217009	1.00[ASN][1000 genomes]
rs73217017	1.00[ASN][1000 genomes]
rs73222694	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222699	1.00[ASN][1000 genomes]
rs73222778	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222786	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73222794	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222795	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73224303	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224309	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224313	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224318	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224321	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	1.00[ASN][1000 genomes]
rs73224324	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73225003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225012	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227029	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227038	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:121151200-121161800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:121151200-121162000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:121151200-121162200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:121151200-121162200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:121151200-121162200	Strong transcription	Brain Anterior Caudate	brain
15	chr12:121151200-121162200	Strong transcription	Fetal Thymus	thymus
16	chr12:121151200-121162400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
19	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:121151800-121162200	Strong transcription	Left Ventricle	heart
22	chr12:121151800-121162400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:121151800-121162600	Strong transcription	Fetal Lung	lung
24	chr12:121151800-121162600	Strong transcription	Placenta	Placenta
25	chr12:121152200-121162000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:121152200-121162200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:121155000-121162600	Weak transcription	Fetal Heart	heart
28	chr12:121157200-121162800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:121157600-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:121158200-121162600	Weak transcription	Fetal Brain Male	brain
31	chr12:121158200-121163000	Weak transcription	Stomach Mucosa	stomach
32	chr12:121158400-121162600	Strong transcription	A549	lung
33	chr12:121158400-121163200	Weak transcription	Psoas Muscle	Psoas
34	chr12:121158400-121163600	Weak transcription	Small Intestine	intestine
35	chr12:121158600-121162200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:121158600-121163000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:121158800-121161800	Strong transcription	NH-A	brain
38	chr12:121159000-121161800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr12:121159000-121162400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:121159000-121162800	Strong transcription	HSMM	muscle
41	chr12:121159000-121162800	Strong transcription	NHEK	skin
42	chr12:121159200-121162400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:121159200-121162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:121159200-121162600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:121159200-121162600	Strong transcription	NHDF-Ad	bronchial
46	chr12:121159200-121162800	Strong transcription	Osteobl	bone
47	chr12:121159400-121161800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:121159400-121162600	Strong transcription	Fetal Intestine Large	intestine
49	chr12:121159400-121162600	Strong transcription	Fetal Intestine Small	intestine
50	chr12:121159600-121162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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