Variant report

Variant	rs73412971
Chromosome Location	chr12:118747867-118747868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118746730..118750377-chr12:118808240..118815610,7	K562	blood:
2	chr12:118746730..118749165-chr12:118809879..118812657,2	K562	blood:

Variant related genes	Relation type
ENSG00000270482	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045542	1.00[ASN][1000 genomes]
rs17441179	1.00[ASN][1000 genomes]
rs2062525	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34789655	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35506792	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	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	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
4	chr12:118739200-118749400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:118740400-118748800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:118742000-118749600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:118745000-118748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:118745400-118749400	Weak transcription	Liver	Liver
9	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:118745600-118748200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:118745600-118750400	Weak transcription	A549	lung
12	chr12:118745600-118751800	Weak transcription	Primary B cells from cord blood	blood
13	chr12:118745800-118749600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:118745800-118749600	Weak transcription	HSMMtube	muscle
15	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:118746000-118748000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:118746000-118748200	Enhancers	NH-A	brain
19	chr12:118746000-118749400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:118746000-118750600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:118746200-118748000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:118746200-118749600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:118746400-118749600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:118746400-118749600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:118746400-118749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:118746400-118754800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:118746600-118748800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:118746600-118749400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:118746600-118749600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:118746600-118749600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:118746600-118749600	Weak transcription	NHDF-Ad	bronchial
35	chr12:118746600-118749600	Weak transcription	NHLF	lung
36	chr12:118746600-118749600	Weak transcription	Osteobl	bone
37	chr12:118746600-118750200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:118746600-118751400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:118746600-118752600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:118746600-118756000	Weak transcription	HUVEC	blood vessel
41	chr12:118746600-118766600	Weak transcription	HSMM	muscle
42	chr12:118746800-118748000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:118746800-118751800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:118747000-118749800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:118747000-118751600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:118747000-118754400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:118747000-118759200	Weak transcription	Lung	lung
48	chr12:118747400-118749600	Weak transcription	HMEC	breast
49	chr12:118747400-118751600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr12:118747600-118748000	Enhancers	K562	blood

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