Variant report

Variant	rs61695444
Chromosome Location	chr12:56725448-56725449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56692026..56695172-chr12:56724921..56728621,5	MCF-7	breast:
2	chr12:56719398..56723461-chr12:56725214..56730868,13	MCF-7	breast:
3	chr12:56707486..56713546-chr12:56723426..56730112,22	MCF-7	breast:
4	chr12:56707850..56716783-chr12:56721562..56730442,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257303	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000257727	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11834038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835054	1.00[AMR][1000 genomes]
rs1508211	1.00[AMR][1000 genomes]
rs2066812	1.00[AMR][1000 genomes]
rs2271195	1.00[AMR][1000 genomes]
rs35807059	1.00[AMR][1000 genomes]
rs55771348	1.00[AMR][1000 genomes]
rs56983027	1.00[AMR][1000 genomes]
rs60419159	1.00[AMR][1000 genomes]
rs61186183	1.00[AMR][1000 genomes]
rs73338396	1.00[AMR][1000 genomes]
rs73338402	1.00[AMR][1000 genomes]
rs74091499	1.00[AMR][1000 genomes]
rs74092004	1.00[AMR][1000 genomes]
rs74092007	1.00[AMR][1000 genomes]
rs74092015	1.00[AMR][1000 genomes]
rs74094517	1.00[AMR][1000 genomes]
rs74094520	1.00[AMR][1000 genomes]
rs74094521	1.00[AMR][1000 genomes]
rs74094522	1.00[AMR][1000 genomes]
rs74094539	1.00[AMR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56710600-56726800	Weak transcription	NH-A	brain
2	chr12:56710800-56726400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:56710800-56726600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:56711400-56726600	Weak transcription	Fetal Brain Male	brain
5	chr12:56713400-56726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:56716600-56726800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:56717600-56726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:56718800-56726600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:56718800-56726600	Weak transcription	NHDF-Ad	bronchial
10	chr12:56719200-56726600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:56719200-56726800	Weak transcription	Small Intestine	intestine
12	chr12:56719600-56726600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:56719800-56726400	Weak transcription	Right Atrium	heart
14	chr12:56719800-56726600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:56720000-56726600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:56720200-56726400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:56720600-56726600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:56720600-56726600	Weak transcription	HSMM	muscle
19	chr12:56720800-56726600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:56720800-56726600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:56720800-56726600	Weak transcription	Psoas Muscle	Psoas
22	chr12:56721000-56726400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:56721000-56726600	Weak transcription	A549	lung
24	chr12:56721000-56726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:56721200-56726600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:56721200-56726600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:56721400-56726200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:56721400-56726400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:56721400-56726600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:56721400-56726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:56721400-56726600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:56721400-56726600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:56721800-56726200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:56721800-56726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:56721800-56726400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:56722000-56726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:56722000-56726400	Weak transcription	Fetal Heart	heart
38	chr12:56722000-56726400	Weak transcription	GM12878-XiMat	blood
39	chr12:56722000-56726600	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:56722000-56726600	Weak transcription	HSMMtube	muscle
41	chr12:56722200-56726400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:56722200-56726400	Weak transcription	Esophagus	oesophagus
43	chr12:56722200-56726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:56722200-56726600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:56722200-56726600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:56722200-56726600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:56722200-56726600	Weak transcription	Fetal Kidney	kidney
48	chr12:56722200-56726600	Weak transcription	Gastric	stomach
49	chr12:56722200-56726600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:56722200-56726600	Weak transcription	Right Ventricle	heart

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