Variant report

Variant	rs12606246
Chromosome Location	chr18:9731357-9731358
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9684743..9687685-chr18:9730508..9732228,2	K562	blood:
2	chr18:9710094..9711758-chr18:9728271..9731556,3	K562	blood:
3	chr18:9729977..9732363-chr18:9736076..9738705,2	MCF-7	breast:
4	chr18:9729801..9734726-chr18:9735904..9739407,5	K562	blood:
5	chr18:9723813..9726677-chr18:9730594..9733052,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12605525	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28639965	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28681253	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62078925	0.97[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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3393081	chr18:9731352-9734450	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
2	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
3	chr18:9712800-9732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:9713600-9732200	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9716800-9732400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:9717200-9732000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:9718200-9732000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr18:9718200-9732600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9719000-9732000	Weak transcription	HSMMtube	muscle
10	chr18:9719800-9733600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9719800-9734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
13	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9720600-9732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr18:9720600-9733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:9720600-9734200	Weak transcription	HUVEC	blood vessel
17	chr18:9720800-9737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:9721200-9737200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:9721800-9737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:9722400-9733400	Weak transcription	Right Ventricle	heart
22	chr18:9722400-9734400	Weak transcription	Colonic Mucosa	Colon
23	chr18:9723400-9732200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:9723800-9734200	Weak transcription	Fetal Lung	lung
25	chr18:9724000-9732000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr18:9724000-9737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:9725000-9732000	Weak transcription	Ovary	ovary
28	chr18:9725000-9732200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr18:9725000-9737600	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:9725600-9732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:9725600-9733600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr18:9726200-9734200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:9726400-9732000	Weak transcription	Lung	lung
34	chr18:9726400-9732200	Weak transcription	Aorta	Aorta
35	chr18:9726400-9732200	Weak transcription	Spleen	Spleen
36	chr18:9726600-9732000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:9726600-9732000	Weak transcription	Brain Substantia Nigra	brain
38	chr18:9726600-9732000	Weak transcription	Colon Smooth Muscle	Colon
39	chr18:9726600-9732400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:9727200-9732200	Weak transcription	Fetal Muscle Leg	muscle
41	chr18:9727200-9732200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr18:9727200-9733600	Weak transcription	Esophagus	oesophagus
43	chr18:9728800-9732000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:9729600-9731600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:9730000-9731600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr18:9730400-9732200	Enhancers	NHDF-Ad	bronchial
47	chr18:9730600-9731400	Enhancers	A549	lung
48	chr18:9730600-9731400	Enhancers	NHLF	lung
49	chr18:9730600-9731800	Enhancers	Hela-S3	cervix
50	chr18:9730600-9732000	Enhancers	Primary neutrophils fromperipheralblood	blood

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