Variant report

Variant	rs12636108
Chromosome Location	chr3:56833766-56833767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:56715789..56718047-chr3:56832707..56834723,2	K562	blood:
2	chr3:56741202..56741763-chr3:56833220..56833834,2	MCF-7	breast:
3	chr3:56715514..56718317-chr3:56833414..56836251,4	MCF-7	breast:
4	chr3:56736462..56736971-chr3:56833448..56834355,2	MCF-7	breast:
5	chr3:56823666..56826610-chr3:56831227..56833916,2	K562	blood:
6	chr3:56736568..56737216-chr3:56833111..56833995,3	MCF-7	breast:
7	chr3:56736663..56737335-chr3:56833565..56834496,2	K562	blood:

Variant related genes	Relation type
ENSG00000163946	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13434307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057321	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17057326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803697	0.81[ASN][1000 genomes]
rs9832249	0.81[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	nsv876818	chr3:56805376-56924711	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56819200-56834400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:56820600-56834600	Weak transcription	NHDF-Ad	bronchial
3	chr3:56827400-56834400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:56830600-56834200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:56831600-56834400	Active TSS	Fetal Kidney	kidney
6	chr3:56832000-56833800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:56832000-56835000	Flanking Active TSS	Dnd41	blood
8	chr3:56832000-56835800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:56832200-56833800	Active TSS	Brain Hippocampus Middle	brain
10	chr3:56832200-56834200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:56832200-56834200	Active TSS	Brain Angular Gyrus	brain
12	chr3:56832200-56834400	Active TSS	Brain Anterior Caudate	brain
13	chr3:56832200-56834600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr3:56832200-56835400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr3:56832200-56835400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr3:56832400-56833800	Active TSS	Brain Cingulate Gyrus	brain
17	chr3:56832400-56834200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:56832400-56834400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr3:56832400-56835000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:56832400-56836200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:56832400-56836200	Active TSS	Primary T cells fromperipheralblood	blood
22	chr3:56832400-56836200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:56832400-56836600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr3:56832600-56834600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:56832800-56833800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:56832800-56834200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr3:56832800-56834600	Active TSS	Right Atrium	heart
28	chr3:56832800-56836400	Active TSS	Thymus	Thymus
29	chr3:56832800-56836600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:56833000-56834400	Enhancers	Fetal Heart	heart
31	chr3:56833000-56834600	Active TSS	HepG2	liver
32	chr3:56833000-56835600	Flanking Active TSS	HUVEC	blood vessel
33	chr3:56833000-56836400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr3:56833000-56836400	Active TSS	HMEC	breast
35	chr3:56833200-56833800	Flanking Active TSS	Fetal Thymus	thymus
36	chr3:56833200-56834000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr3:56833200-56834000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:56833200-56834000	Enhancers	Hela-S3	cervix
39	chr3:56833200-56834200	Enhancers	Colonic Mucosa	Colon
40	chr3:56833200-56834600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:56833200-56834600	Enhancers	Placenta	Placenta
42	chr3:56833200-56834600	Active TSS	Stomach Smooth Muscle	stomach
43	chr3:56833200-56834800	Enhancers	Fetal Lung	lung
44	chr3:56833200-56835000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr3:56833200-56835400	Flanking Active TSS	NHEK	skin
46	chr3:56833200-56836000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:56833400-56833800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:56833400-56833800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr3:56833400-56833800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
50	chr3:56833400-56833800	Active TSS	Primary T killer memory cells from peripheral blood	blood

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