Variant report

Variant	rs74088362
Chromosome Location	chr12:39749822-39749823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39747712..39750921-chr12:39754829..39757616,3	K562	blood:
2	chr12:39747731..39750258-chr12:39836308..39838380,2	K562	blood:
3	chr12:39748533..39750921-chr12:39755964..39757616,2	K562	blood:
4	chr12:39734809..39736531-chr12:39748406..39750857,2	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1913189	1.00[AMR][1000 genomes]
rs55756650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56114183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57847806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58046207	1.00[AMR][1000 genomes]
rs58297221	1.00[AMR][1000 genomes]
rs74086512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086540	1.00[AMR][1000 genomes]
rs74086548	1.00[AMR][1000 genomes]
rs74086549	1.00[AMR][1000 genomes]
rs74086569	1.00[AMR][1000 genomes]
rs74088332	1.00[AMR][1000 genomes]
rs74088333	1.00[AMR][1000 genomes]
rs74088334	1.00[AMR][1000 genomes]
rs74088335	1.00[AMR][1000 genomes]
rs74088336	1.00[AMR][1000 genomes]
rs74088338	1.00[AMR][1000 genomes]
rs74088343	1.00[AMR][1000 genomes]
rs74088344	1.00[AMR][1000 genomes]
rs74088350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088369	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv558590	chr12:39724344-39751273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
2	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
3	chr12:39699600-39760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:39718400-39756800	Weak transcription	HSMM	muscle
5	chr12:39721000-39770600	Weak transcription	Gastric	stomach
6	chr12:39721600-39752400	Weak transcription	Right Ventricle	heart
7	chr12:39722800-39767200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:39724400-39751800	Weak transcription	Fetal Heart	heart
9	chr12:39725000-39750000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:39725200-39753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:39726000-39753800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:39726400-39766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:39726600-39766600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:39726600-39766600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:39726600-39766800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:39726800-39762200	Weak transcription	Placenta	Placenta
17	chr12:39726800-39766600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:39727000-39750000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:39727000-39750000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:39727000-39751000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:39727000-39751800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:39727000-39753800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:39727000-39755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:39727000-39755600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:39727000-39758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:39727000-39758000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:39727000-39758200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:39727000-39760600	Weak transcription	Brain Angular Gyrus	brain
29	chr12:39727000-39761400	Weak transcription	Fetal Intestine Small	intestine
30	chr12:39727000-39762400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:39727000-39767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:39727000-39779200	Weak transcription	Aorta	Aorta
33	chr12:39728800-39750200	Weak transcription	Hela-S3	cervix
34	chr12:39733000-39750000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:39735200-39761400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:39735600-39750400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:39735600-39755800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:39735600-39766600	Weak transcription	HMEC	breast
39	chr12:39735600-39766600	Weak transcription	NHEK	skin
40	chr12:39737000-39752600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:39737400-39766600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:39740600-39750000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:39740600-39761200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:39742600-39761400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:39743000-39750200	Weak transcription	HepG2	liver
46	chr12:39743000-39766800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:39743200-39765800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:39745000-39762000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:39745000-39778600	Weak transcription	Pancreas	Pancrea
50	chr12:39747000-39750000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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