Variant report

Variant	rs73314544
Chromosome Location	chr12:63156196-63156197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63153929..63156518-chr12:63158042..63160004,2	K562	blood:
2	chr12:63154137..63156513-chr12:63157546..63160196,2	MCF-7	breast:
3	chr12:63155609..63159608-chr12:63162125..63165442,4	K562	blood:
4	chr12:62997413..63000389-chr12:63154055..63157053,2	MCF-7	breast:
5	chr12:62995291..62997610-chr12:63154157..63156822,2	K562	blood:

Variant related genes	Relation type
ENSG00000257354	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58490000	1.00[AMR][1000 genomes]
rs59100965	1.00[AMR][1000 genomes]
rs61036791	1.00[AMR][1000 genomes]
rs74098815	1.00[AMR][1000 genomes]
rs74098819	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802580	chr12:63139188-63157591	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv559157	chr12:63142592-63163019	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:63149800-63158400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:63151000-63160600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:63152200-63160600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:63152400-63161200	Weak transcription	HUVEC	blood vessel
14	chr12:63153200-63158200	Enhancers	Fetal Intestine Large	intestine
15	chr12:63153400-63157800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:63153400-63159000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:63153600-63156200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:63153600-63163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:63153600-63164000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:63153800-63163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:63154000-63156600	Enhancers	Osteobl	bone
23	chr12:63154000-63157200	Enhancers	Colonic Mucosa	Colon
24	chr12:63154000-63157600	Enhancers	Stomach Mucosa	stomach
25	chr12:63154000-63163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:63154200-63157600	Enhancers	Adipose Nuclei	Adipose
27	chr12:63154200-63158800	Enhancers	NHDF-Ad	bronchial
28	chr12:63154400-63156200	Enhancers	Liver	Liver
29	chr12:63154400-63157200	Weak transcription	Ovary	ovary
30	chr12:63154600-63156200	Enhancers	Fetal Muscle Leg	muscle
31	chr12:63154600-63156200	Enhancers	NHLF	lung
32	chr12:63154600-63158800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:63154800-63156800	Weak transcription	Fetal Kidney	kidney
34	chr12:63154800-63157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:63154800-63160600	Weak transcription	HSMMtube	muscle
36	chr12:63155000-63157000	Weak transcription	Small Intestine	intestine
37	chr12:63155000-63157600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:63155200-63156200	Enhancers	HSMM	muscle
39	chr12:63155200-63156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:63155200-63157000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:63155400-63156200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:63155400-63156200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:63155400-63156400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:63155400-63158800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:63155400-63160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:63155400-63161200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:63155600-63156200	Enhancers	Left Ventricle	heart
48	chr12:63155600-63156200	Enhancers	Psoas Muscle	Psoas
49	chr12:63155600-63156200	Enhancers	Right Ventricle	heart
50	chr12:63155600-63156400	Enhancers	Fetal Muscle Trunk	muscle

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