Variant report

Variant	rs73306276
Chromosome Location	chr12:32258857-32258858
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr12:32258796-32262329	K562	blood:	n/a	n/a
2	CTCF	chr12:32258687-32261345	A549	lung:	n/a	chr12:32259599-32259615 chr12:32259598-32259616 chr12:32259723-32259733 chr12:32259600-32259613 chr12:32259722-32259735
3	MXI1	chr12:32258712-32262487	SK-N-SH	brain:	n/a	chr12:32259312-32259321

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31880708..31883036-chr12:32258362..32261321,3	K562	blood:
2	chr12:32257278..32259683-chr12:32278967..32281640,2	MCF-7	breast:

Variant related genes	Relation type
BICD1	TF binding region
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55712297	1.00[AMR][1000 genomes]
rs58412043	1.00[AMR][1000 genomes]
rs73291273	1.00[AMR][1000 genomes]
rs73308371	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32230000-32259200	Weak transcription	Right Atrium	heart
2	chr12:32254000-32259000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:32255200-32259000	Weak transcription	NHDF-Ad	bronchial
4	chr12:32257600-32259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:32257800-32259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32257800-32259000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:32257800-32259000	Weak transcription	Right Ventricle	heart
8	chr12:32257800-32259200	Weak transcription	Left Ventricle	heart
9	chr12:32258200-32259000	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:32258400-32259000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:32258400-32259000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:32258400-32259200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:32258400-32259200	Enhancers	Fetal Heart	heart
14	chr12:32258400-32261600	Active TSS	Brain Germinal Matrix	brain
15	chr12:32258600-32259000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:32258600-32259000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr12:32258600-32259000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:32258600-32259000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:32258600-32259000	Bivalent Enhancer	HepG2	liver
20	chr12:32258600-32259200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:32258600-32259200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:32258600-32259400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:32258800-32259000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:32258800-32259000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:32258800-32259000	Active TSS	Primary B cells from cord blood	blood
26	chr12:32258800-32259000	Enhancers	Primary T cells from cord blood	blood
27	chr12:32258800-32259000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:32258800-32259000	Active TSS	Primary hematopoietic stem cells	blood
29	chr12:32258800-32259000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:32258800-32259000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:32258800-32259000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr12:32258800-32259000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:32258800-32259000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:32258800-32259000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:32258800-32259000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:32258800-32259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:32258800-32259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:32258800-32259000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:32258800-32259000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:32258800-32259000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:32258800-32259000	Enhancers	Adipose Nuclei	Adipose
42	chr12:32258800-32259000	Enhancers	Brain Substantia Nigra	brain
43	chr12:32258800-32259000	Enhancers	Colonic Mucosa	Colon
44	chr12:32258800-32259000	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:32258800-32259000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:32258800-32259000	Enhancers	Fetal Brain Male	brain
47	chr12:32258800-32259000	Enhancers	Fetal Intestine Small	intestine
48	chr12:32258800-32259000	Enhancers	Fetal Lung	lung
49	chr12:32258800-32259000	Enhancers	Fetal Stomach	stomach
50	chr12:32258800-32259000	Enhancers	Skeletal Muscle Female	skeletal muscle

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