Variant report

Variant	rs9949863
Chromosome Location	chr18:12953516-12953517
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	chr18:12882295..12883903-chr18:12953395..12955724,2	K562	blood:
2	chr18:12951983..12953642-chr18:12983977..12986674,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12162175	1.00[ASN][1000 genomes]
rs28579212	0.82[AFR][1000 genomes]
rs3809911	1.00[ASN][1000 genomes]
rs73407750	0.85[AFR][1000 genomes]
rs9953795	0.85[AFR][1000 genomes]
rs9960379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9964794	1.00[ASN][1000 genomes]
rs9965936	0.85[AFR][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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12948800-12954400	Weak transcription	NHDF-Ad	bronchial
2	chr18:12948800-12957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:12948800-12958200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:12948800-12958200	Weak transcription	Left Ventricle	heart
5	chr18:12948800-12958400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:12948800-12958400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:12948800-12963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12948800-12963200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:12948800-12963200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr18:12948800-12963200	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:12948800-12963600	Weak transcription	Esophagus	oesophagus
12	chr18:12948800-12971000	Weak transcription	Ovary	ovary
13	chr18:12948800-12971600	Weak transcription	Pancreas	Pancrea
14	chr18:12948800-12976600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:12949000-12953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:12949000-12954600	Weak transcription	HSMMtube	muscle
18	chr18:12949000-12957400	Weak transcription	Fetal Lung	lung
19	chr18:12949000-12957400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr18:12949000-12957600	Weak transcription	Brain Angular Gyrus	brain
21	chr18:12949000-12957600	Weak transcription	Fetal Kidney	kidney
22	chr18:12949000-12963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr18:12949000-12963200	Weak transcription	NHLF	lung
24	chr18:12949000-12971600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:12949000-12975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:12949200-12954200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr18:12949200-12954800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:12949200-12957200	Weak transcription	Adipose Nuclei	Adipose
29	chr18:12949200-12957200	Weak transcription	Brain Germinal Matrix	brain
30	chr18:12949200-12957400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:12949200-12957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr18:12949200-12958200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr18:12949200-12958200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr18:12949200-12960800	Weak transcription	Fetal Heart	heart
35	chr18:12949200-12960800	Weak transcription	Stomach Mucosa	stomach
36	chr18:12949200-12961000	Weak transcription	Colonic Mucosa	Colon
37	chr18:12949200-12963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:12949200-12963600	Weak transcription	Small Intestine	intestine
39	chr18:12949200-12971600	Weak transcription	Brain Substantia Nigra	brain
40	chr18:12949200-12972000	Weak transcription	Right Ventricle	heart
41	chr18:12949200-12989400	Weak transcription	Psoas Muscle	Psoas
42	chr18:12949400-12954000	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:12949400-12955400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:12949400-12957400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:12949400-12957600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:12949400-12957600	Weak transcription	A549	lung
47	chr18:12949400-12963200	Weak transcription	HMEC	breast
48	chr18:12949400-12963400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:12949600-12953800	Weak transcription	NHEK	skin
50	chr18:12949800-12956200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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