Variant report

Variant	rs12002381
Chromosome Location	chr9:8870553-8870554
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	chr9:8868603..8871582-chr9:8873717..8875264,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12001014	1.00[ASN][1000 genomes]
rs2117099	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs55764273	1.00[ASN][1000 genomes]
rs56027406	1.00[ASN][1000 genomes]
rs57986047	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58013521	1.00[ASN][1000 genomes]
rs58658598	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58887696	1.00[ASN][1000 genomes]
rs60125771	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018889	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs73640958	1.00[ASN][1000 genomes]
rs7857477	1.00[ASN][1000 genomes]
rs7866882	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892236	chr9:8745520-8870553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3326942	chr9:8865090-8872652	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3483609	chr9:8865135-8872711	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3483610	chr9:8865149-8872716	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv522121	chr9:8865925-8870553	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8858800-8871400	Enhancers	Fetal Heart	heart
2	chr9:8859400-8870800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:8863400-8872000	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:8864600-8870800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:8864800-8870800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:8864800-8870800	Enhancers	Brain Anterior Caudate	brain
7	chr9:8865800-8870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:8866200-8870800	Enhancers	Brain Substantia Nigra	brain
9	chr9:8867600-8870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:8867600-8870800	Enhancers	Brain Hippocampus Middle	brain
11	chr9:8867800-8870800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:8868000-8870800	Weak transcription	Brain Germinal Matrix	brain
13	chr9:8868200-8872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:8868400-8871800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:8868400-8872200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:8868600-8871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:8869000-8873800	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:8869200-8870600	Weak transcription	Osteobl	bone
19	chr9:8869400-8870600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:8869400-8870800	Enhancers	Aorta	Aorta
21	chr9:8869400-8876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:8869600-8871200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:8869800-8870800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:8869800-8871000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:8869800-8872600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr9:8869800-8874000	Enhancers	Brain Angular Gyrus	brain
27	chr9:8870000-8870800	Weak transcription	Small Intestine	intestine
28	chr9:8870000-8871800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:8870000-8871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:8870000-8874400	Weak transcription	Left Ventricle	heart
31	chr9:8870200-8870600	Enhancers	Liver	Liver
32	chr9:8870200-8870800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:8870400-8870600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr9:8870400-8870800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:8870400-8871200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:8870400-8871400	Enhancers	Fetal Intestine Large	intestine
37	chr9:8870400-8871400	Enhancers	Fetal Intestine Small	intestine

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