Variant report

Variant	rs72704339
Chromosome Location	chr9:8871438-8871439
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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7023424	0.89[AMR][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	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	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
5	esv3326942	chr9:8865090-8872652	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3483609	chr9:8865135-8872711	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3483610	chr9:8865149-8872716	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8863400-8872000	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:8868200-8872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:8868400-8871800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:8868400-8872200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8868600-8871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:8869000-8873800	Enhancers	Brain Cingulate Gyrus	brain
7	chr9:8869400-8876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:8869800-8872600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr9:8869800-8874000	Enhancers	Brain Angular Gyrus	brain
10	chr9:8870000-8871800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:8870000-8871800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:8870000-8874400	Weak transcription	Left Ventricle	heart
13	chr9:8870800-8872200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:8870800-8872400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:8870800-8873000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:8870800-8874000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:8871000-8871600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:8871000-8872200	Weak transcription	Right Atrium	heart
19	chr9:8871000-8876000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:8871000-8879800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:8871200-8872000	Enhancers	Brain Hippocampus Middle	brain
22	chr9:8871200-8874400	Weak transcription	Right Ventricle	heart
23	chr9:8871200-8875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:8871400-8871600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:8871400-8871600	Weak transcription	Aorta	Aorta
26	chr9:8871400-8871600	Enhancers	Liver	Liver
27	chr9:8871400-8872000	Flanking Active TSS	Fetal Heart	heart
28	chr9:8871400-8873000	Enhancers	Brain Anterior Caudate	brain
29	chr9:8871400-8873400	Enhancers	Brain Substantia Nigra	brain
30	chr9:8871400-8883000	Weak transcription	Fetal Intestine Small	intestine

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