Variant report

Variant	rs56297932
Chromosome Location	chr18:12338883-12338884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12329605..12332394-chr18:12338535..12341169,2	K562	blood:
2	chr18:12336416..12339580-chr18:12362136..12364689,3	K562	blood:
3	chr18:12326926..12330027-chr18:12336658..12338929,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55798820	1.00[ASN][1000 genomes]
rs55857671	1.00[ASN][1000 genomes]
rs56152190	1.00[ASN][1000 genomes]
rs56371539	1.00[ASN][1000 genomes]
rs56792052	1.00[ASN][1000 genomes]
rs61470666	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
2	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
3	chr18:12323400-12342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr18:12324800-12339400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr18:12326000-12343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr18:12333200-12339600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:12333200-12362200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr18:12333200-12370800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr18:12333200-12371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr18:12333400-12339000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr18:12333400-12339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr18:12333400-12339000	Strong transcription	Colonic Mucosa	Colon
14	chr18:12333400-12339200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr18:12333400-12339600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr18:12333400-12339600	Strong transcription	Thymus	Thymus
17	chr18:12333400-12340800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr18:12333400-12366600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:12333400-12370200	Strong transcription	Fetal Thymus	thymus
20	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
21	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
22	chr18:12333600-12339000	Strong transcription	Dnd41	blood
23	chr18:12333600-12339200	Strong transcription	Brain Germinal Matrix	brain
24	chr18:12333600-12356800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr18:12333600-12358200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:12333600-12361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:12333600-12362600	Strong transcription	Adipose Nuclei	Adipose
28	chr18:12333600-12364000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr18:12333600-12366400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr18:12333600-12369600	Strong transcription	Placenta	Placenta
31	chr18:12333600-12369800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:12333800-12339000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr18:12333800-12348600	Strong transcription	Brain Hippocampus Middle	brain
34	chr18:12333800-12353200	Strong transcription	Fetal Brain Female	brain
35	chr18:12333800-12357000	Strong transcription	Brain Anterior Caudate	brain
36	chr18:12333800-12360200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr18:12333800-12369400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr18:12334000-12369400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr18:12334400-12339000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:12334400-12339200	Strong transcription	Lung	lung
41	chr18:12335000-12341600	Weak transcription	Gastric	stomach
42	chr18:12335600-12339200	Strong transcription	Aorta	Aorta
43	chr18:12335600-12362600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr18:12335800-12339200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr18:12335800-12339200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr18:12336000-12339200	Strong transcription	Right Ventricle	heart
47	chr18:12336200-12340200	Weak transcription	Brain Angular Gyrus	brain
48	chr18:12336200-12341600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr18:12336800-12348400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:12337000-12339000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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