Variant report

Variant	rs628891
Chromosome Location	chr18:8381073-8381074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs586931	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs607017	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs630525	0.84[CHB][hapmap]
rs656068	0.84[CEU][hapmap];0.84[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs678682	0.92[CEU][hapmap];0.80[AMR][1000 genomes]
rs8082894	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
2	chr18:8367800-8381400	Weak transcription	Brain Substantia Nigra	brain
3	chr18:8367800-8382000	Weak transcription	Brain Germinal Matrix	brain
4	chr18:8367800-8382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:8367800-8398600	Weak transcription	NHLF	lung
7	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:8369000-8388000	Weak transcription	Fetal Heart	heart
10	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:8373400-8394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:8374000-8381400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:8374000-8384400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr18:8375200-8381200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:8375400-8381800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr18:8376000-8389600	Weak transcription	Fetal Kidney	kidney
19	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:8376400-8382200	Weak transcription	Fetal Brain Male	brain
21	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:8377400-8394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:8377600-8386800	Weak transcription	NHDF-Ad	bronchial
24	chr18:8377800-8382800	Strong transcription	Left Ventricle	heart
25	chr18:8378600-8398600	Weak transcription	Hela-S3	cervix
26	chr18:8378800-8381600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:8378800-8384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:8378800-8396600	Weak transcription	HMEC	breast
29	chr18:8378800-8397000	Weak transcription	NHEK	skin
30	chr18:8379000-8411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:8379200-8384600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr18:8379200-8384800	Weak transcription	Placenta	Placenta
33	chr18:8379200-8396000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr18:8379200-8396800	Weak transcription	Primary T cells from cord blood	blood
35	chr18:8379400-8382000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:8379400-8385400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:8379400-8387000	Weak transcription	Fetal Intestine Small	intestine
38	chr18:8379400-8387800	Weak transcription	Fetal Brain Female	brain
39	chr18:8379400-8394200	Strong transcription	Adipose Nuclei	Adipose
40	chr18:8379600-8381600	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:8379600-8384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:8379600-8407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:8379800-8381600	Weak transcription	Brain Anterior Caudate	brain
44	chr18:8379800-8410800	Weak transcription	Psoas Muscle	Psoas
45	chr18:8380000-8383800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr18:8380000-8394200	Weak transcription	Colon Smooth Muscle	Colon
47	chr18:8380200-8382000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr18:8380200-8382400	Enhancers	HSMM	muscle
49	chr18:8380200-8383000	Enhancers	HSMMtube	muscle
50	chr18:8380400-8382000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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