Variant report

Variant	rs12320756
Chromosome Location	chr12:56203505-56203506
allele	C/T
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	chr12:56194831..56201406-chr12:56201561..56204912,5	K562	blood:
3	chr12:56131540..56134200-chr12:56203491..56206395,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10082864	0.98[ASN][1000 genomes]
rs10083186	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10161417	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171667	0.97[EUR][1000 genomes]
rs11171670	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11171671	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11171677	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171681	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11834264	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12304296	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304507	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17117974	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2291267	0.94[ASN][1000 genomes]
rs3759101	0.98[ASN][1000 genomes]
rs7297523	0.97[EUR][1000 genomes]
rs7299222	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971247	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7972345	1.00[ASN][1000 genomes]
rs868051	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:123 , 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	chr12:56169800-56204200	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:56170200-56204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:56175200-56204200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:56178800-56209200	Weak transcription	Stomach Mucosa	stomach
10	chr12:56183400-56210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56184800-56207800	Weak transcription	Fetal Heart	heart
12	chr12:56185000-56209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:56187400-56208400	Weak transcription	Psoas Muscle	Psoas
14	chr12:56189600-56207600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:56189800-56208000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:56189800-56208800	Weak transcription	Fetal Brain Male	brain
17	chr12:56189800-56209600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:56193200-56206400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:56193200-56207800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:56193200-56209200	Weak transcription	Colonic Mucosa	Colon
21	chr12:56195000-56209000	Weak transcription	HSMMtube	muscle
22	chr12:56195400-56205000	Weak transcription	NHLF	lung
23	chr12:56195600-56206200	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:56195600-56209200	Weak transcription	Spleen	Spleen
25	chr12:56195600-56210600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:56195800-56209200	Weak transcription	Brain Anterior Caudate	brain
27	chr12:56195800-56209600	Weak transcription	Fetal Kidney	kidney
28	chr12:56195800-56210200	Weak transcription	Aorta	Aorta
29	chr12:56196000-56205600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:56196000-56207800	Weak transcription	NHDF-Ad	bronchial
31	chr12:56196200-56206400	Weak transcription	NH-A	brain
32	chr12:56197200-56208800	Weak transcription	Brain Germinal Matrix	brain
33	chr12:56197600-56205600	Weak transcription	HSMM	muscle
34	chr12:56197600-56209000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:56198000-56208800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:56198000-56209200	Weak transcription	HMEC	breast
37	chr12:56198000-56209400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:56198400-56205400	Strong transcription	Fetal Intestine Small	intestine
39	chr12:56198600-56205800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:56198800-56204800	Weak transcription	A549	lung
41	chr12:56199000-56205400	Strong transcription	Fetal Stomach	stomach
42	chr12:56199400-56205200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:56199800-56205600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:56200400-56203600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:56200600-56205400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:56200600-56205800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:56200600-56209400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:56200800-56203600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr12:56200800-56203600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:56200800-56203800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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