Variant report

Variant	rs2887997
Chromosome Location	chr12:56206211-56206212
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56202256..56204749-chr12:56204948..56206519,2	K562	blood:
2	chr12:56206113..56207643-chr12:56339999..56341988,2	K562	blood:
3	chr12:56203945..56206681-chr12:56374371..56376076,2	MCF-7	breast:
4	chr12:56204184..56207939-chr12:56208091..56213011,15	K562	blood:
5	chr12:56131540..56134200-chr12:56203491..56206395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237493	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000123353	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1466512	1.00[AMR][1000 genomes]
rs1681085	1.00[AMR][1000 genomes]
rs1725358	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1871999	1.00[AMR][1000 genomes]
rs2449476	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2462938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694008	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2694015	1.00[AMR][1000 genomes]
rs4759012	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4759202	1.00[AMR][1000 genomes]
rs55884432	1.00[AMR][1000 genomes]
rs6581083	1.00[AMR][1000 genomes]
rs7294345	1.00[AMR][1000 genomes]
rs7310325	1.00[AMR][1000 genomes]
rs772250	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772251	1.00[YRI][hapmap]
rs772252	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772256	1.00[AMR][1000 genomes]
rs772257	1.00[AMR][1000 genomes]
rs772259	1.00[AMR][1000 genomes]
rs772260	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs772261	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7956337	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963379	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs812230	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56144600-56208800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:56149400-56209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56152800-56209000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:56160400-56209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:56163200-56209400	Strong transcription	Fetal Thymus	thymus
6	chr12:56178800-56209200	Weak transcription	Stomach Mucosa	stomach
7	chr12:56183400-56210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:56184800-56207800	Weak transcription	Fetal Heart	heart
9	chr12:56185000-56209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56187400-56208400	Weak transcription	Psoas Muscle	Psoas
11	chr12:56189600-56207600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:56189800-56208000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:56189800-56208800	Weak transcription	Fetal Brain Male	brain
14	chr12:56189800-56209600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:56193200-56206400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:56193200-56207800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:56193200-56209200	Weak transcription	Colonic Mucosa	Colon
18	chr12:56195000-56209000	Weak transcription	HSMMtube	muscle
19	chr12:56195600-56209200	Weak transcription	Spleen	Spleen
20	chr12:56195600-56210600	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:56195800-56209200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:56195800-56209600	Weak transcription	Fetal Kidney	kidney
23	chr12:56195800-56210200	Weak transcription	Aorta	Aorta
24	chr12:56196000-56207800	Weak transcription	NHDF-Ad	bronchial
25	chr12:56196200-56206400	Weak transcription	NH-A	brain
26	chr12:56197200-56208800	Weak transcription	Brain Germinal Matrix	brain
27	chr12:56197600-56209000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:56198000-56208800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:56198000-56209200	Weak transcription	HMEC	breast
30	chr12:56198000-56209400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:56200600-56209400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:56201200-56206600	Weak transcription	GM12878-XiMat	blood
33	chr12:56201600-56207600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:56201800-56208800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:56202000-56209600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:56202400-56206400	Weak transcription	Hela-S3	cervix
37	chr12:56202400-56207800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:56202800-56207000	Weak transcription	Placenta	Placenta
39	chr12:56203000-56209200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:56203000-56209400	Weak transcription	Small Intestine	intestine
41	chr12:56203200-56208800	Weak transcription	Ovary	ovary
42	chr12:56203200-56209200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:56203400-56207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:56203400-56207400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:56203400-56207400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:56203400-56207600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:56203400-56207800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:56203400-56207800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:56203400-56208200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:56203400-56208800	Weak transcription	Left Ventricle	heart

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