Variant report

Variant	rs12296719
Chromosome Location	chr12:32123796-32123797
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	chr12:32118280..32119789-chr12:32123453..32125787,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10128999	1.00[AMR][1000 genomes]
rs11051702	1.00[AMR][1000 genomes]
rs12302346	1.00[AMR][1000 genomes]
rs12304382	1.00[AMR][1000 genomes]
rs12306735	1.00[AMR][1000 genomes]
rs12319843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320740	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	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv1040680	chr12:32079034-32124694	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32126200	Weak transcription	HSMM	muscle
2	chr12:32114000-32150800	Weak transcription	NHLF	lung
3	chr12:32114200-32124800	Weak transcription	HSMMtube	muscle
4	chr12:32114400-32124200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:32114400-32132200	Weak transcription	NH-A	brain
6	chr12:32114800-32134000	Weak transcription	HMEC	breast
7	chr12:32115000-32123800	Weak transcription	Osteobl	bone
8	chr12:32115000-32126200	Weak transcription	NHEK	skin
9	chr12:32115400-32124800	Weak transcription	Stomach Mucosa	stomach
10	chr12:32115600-32124800	Weak transcription	HepG2	liver
11	chr12:32115800-32124800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:32116000-32141800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
14	chr12:32118200-32124400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:32120000-32124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32120000-32126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:32120000-32126200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:32120000-32130200	ZNF genes & repeats	Dnd41	blood
19	chr12:32120200-32124000	Weak transcription	Esophagus	oesophagus
20	chr12:32120200-32124000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:32120200-32124800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:32120200-32124800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:32120200-32132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:32120200-32132200	Weak transcription	Right Ventricle	heart
25	chr12:32120400-32124200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:32120400-32124800	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:32120400-32124800	Weak transcription	Fetal Heart	heart
28	chr12:32120600-32125200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:32120600-32141600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:32120800-32123800	Weak transcription	Left Ventricle	heart
31	chr12:32120800-32124800	Weak transcription	Gastric	stomach
32	chr12:32120800-32124800	Weak transcription	Pancreas	Pancrea
33	chr12:32120800-32125000	Weak transcription	Psoas Muscle	Psoas
34	chr12:32120800-32126600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:32120800-32140400	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr12:32121000-32125000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:32121000-32125000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:32121000-32126200	Weak transcription	Brain Substantia Nigra	brain
39	chr12:32121200-32132000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:32121200-32139000	ZNF genes & repeats	Fetal Brain Female	brain
41	chr12:32121400-32124200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:32121600-32123800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:32121600-32124600	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:32121600-32124600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr12:32121800-32124200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:32121800-32124800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:32121800-32124800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:32121800-32124800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr12:32121800-32124800	Strong transcription	Fetal Lung	lung
50	chr12:32121800-32125200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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