Variant report

Variant	rs73130040
Chromosome Location	chr12:63157790-63157791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63155609..63159608-chr12:63162125..63165442,4	K562	blood:
2	chr12:62995414..62998835-chr12:63156967..63159768,4	MCF-7	breast:
3	chr12:63154137..63156513-chr12:63157546..63160196,2	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12424995	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73130042	0.92[AMR][1000 genomes];0.98[EUR][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	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
2	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
3	esv3511857	chr12:63157765-63158076	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3511858	chr12:63157765-63158076	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:63145400-63160600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:63145800-63160600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:63145800-63160800	Weak transcription	Brain Substantia Nigra	brain
6	chr12:63145800-63163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:63149800-63158400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:63151000-63160600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:63152200-63160600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:63152400-63161200	Weak transcription	HUVEC	blood vessel
13	chr12:63153200-63158200	Enhancers	Fetal Intestine Large	intestine
14	chr12:63153400-63157800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:63153400-63159000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:63153600-63163600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:63153600-63164000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:63153800-63163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:63154000-63163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:63154200-63158800	Enhancers	NHDF-Ad	bronchial
22	chr12:63154600-63158800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr12:63154800-63160600	Weak transcription	HSMMtube	muscle
24	chr12:63155400-63158800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:63155400-63160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:63155400-63161200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:63155600-63157800	Enhancers	Right Atrium	heart
28	chr12:63155600-63157800	Genic enhancers	HepG2	liver
29	chr12:63156000-63160800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:63156000-63161000	Weak transcription	Gastric	stomach
31	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:63156200-63157800	Weak transcription	NHLF	lung
33	chr12:63156200-63158000	Weak transcription	Right Ventricle	heart
34	chr12:63156200-63158400	Weak transcription	Left Ventricle	heart
35	chr12:63156200-63161600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:63156400-63160400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:63156400-63163200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:63156600-63157800	Weak transcription	Osteobl	bone
39	chr12:63156600-63158200	Enhancers	Duodenum Mucosa	Duodenum
40	chr12:63156600-63158200	Enhancers	Fetal Intestine Small	intestine
41	chr12:63156800-63158000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr12:63157000-63158000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:63157200-63158000	Enhancers	Ovary	ovary
44	chr12:63157200-63158600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:63157200-63158600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:63157200-63160800	Weak transcription	Aorta	Aorta
47	chr12:63157400-63158600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:63157400-63160600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:63157400-63165400	Weak transcription	Pancreas	Pancrea
50	chr12:63157600-63158000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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