Variant report

Variant	rs56386122
Chromosome Location	chr12:32498416-32498417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32492207..32495793-chr12:32495983..32500646,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1055875	1.00[AFR][1000 genomes]
rs191257	0.88[EUR][1000 genomes]
rs325433	0.91[EUR][1000 genomes]
rs325434	0.91[EUR][1000 genomes]
rs325435	0.88[EUR][1000 genomes]
rs34447944	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35919769	1.00[AFR][1000 genomes]
rs4385975	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55686847	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56141196	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56144247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56149636	1.00[AFR][1000 genomes]
rs56253344	1.00[AFR][1000 genomes]
rs73295804	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73295807	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73295812	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73295822	0.86[AMR][1000 genomes];0.95[EUR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32460400-32514600	Weak transcription	HMEC	breast
2	chr12:32475400-32500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32475800-32502200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:32475800-32512200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:32476400-32505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:32477200-32500800	Weak transcription	Hela-S3	cervix
9	chr12:32478800-32498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:32479200-32502200	Weak transcription	NHDF-Ad	bronchial
11	chr12:32479200-32504200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:32479400-32501200	Weak transcription	Fetal Brain Male	brain
13	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:32481400-32511800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:32481600-32501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:32484400-32515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:32485800-32520000	Weak transcription	Fetal Kidney	kidney
18	chr12:32486000-32510800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:32487200-32502400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:32489200-32498600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:32490800-32498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:32490800-32499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:32490800-32518600	Weak transcription	Fetal Intestine Small	intestine
24	chr12:32492000-32503800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:32492200-32498600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:32492200-32502600	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:32492200-32505200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:32492200-32514000	Weak transcription	Aorta	Aorta
29	chr12:32492200-32514200	Weak transcription	Lung	lung
30	chr12:32492200-32518600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:32492200-32518600	Weak transcription	Brain Germinal Matrix	brain
32	chr12:32492200-32522000	Weak transcription	Fetal Stomach	stomach
33	chr12:32492200-32523800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:32492200-32523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:32492200-32527400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
37	chr12:32492400-32514600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:32492400-32518600	Weak transcription	HSMMtube	muscle
39	chr12:32492400-32522000	Weak transcription	Fetal Brain Female	brain
40	chr12:32492400-32524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:32492400-32527200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:32492600-32501800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:32492600-32502600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:32492600-32523200	Weak transcription	Primary B cells from cord blood	blood
46	chr12:32493000-32512200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:32493000-32522000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:32493200-32521200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:32493800-32515000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:32493800-32516200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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