Variant report

Variant	rs4918947
Chromosome Location	chr10:97293912-97293913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97292805..97294377-chr10:97295595..97297617,2	K562	blood:
2	chr10:97272650..97274953-chr10:97291349..97294026,2	K562	blood:
3	chr10:97293527..97296505-chr10:97299046..97301710,3	K562	blood:
4	chr10:97290800..97293543-chr10:97293667..97298455,5	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12240292	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12244553	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12247017	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12254671	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12772243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12776555	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28419260	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35793106	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4918944	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs749176	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97278000-97294000	Weak transcription	Esophagus	oesophagus
2	chr10:97280800-97301400	Enhancers	Fetal Heart	heart
3	chr10:97281600-97296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:97281800-97295000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr10:97282200-97304400	Weak transcription	Brain Germinal Matrix	brain
6	chr10:97283200-97296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:97286200-97294800	Weak transcription	Small Intestine	intestine
8	chr10:97286200-97296000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:97288800-97294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:97289000-97294800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:97289000-97295000	Enhancers	Right Ventricle	heart
12	chr10:97289200-97299200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:97289200-97309000	Enhancers	Left Ventricle	heart
14	chr10:97289400-97296200	Weak transcription	HSMMtube	muscle
15	chr10:97289400-97303800	Weak transcription	HSMM	muscle
16	chr10:97290000-97298600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:97290000-97301400	Enhancers	Rectal Smooth Muscle	rectum
18	chr10:97290400-97294200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:97290400-97298800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:97290600-97294200	Enhancers	Fetal Muscle Leg	muscle
21	chr10:97290600-97301800	Weak transcription	Ovary	ovary
22	chr10:97291000-97295600	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:97291200-97297200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr10:97291200-97301000	Weak transcription	Fetal Brain Female	brain
25	chr10:97291600-97295000	Enhancers	Gastric	stomach
26	chr10:97291800-97296600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:97291800-97308600	Enhancers	Colon Smooth Muscle	Colon
28	chr10:97292000-97295800	Weak transcription	Placenta	Placenta
29	chr10:97292000-97298400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr10:97292200-97299600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:97292400-97294200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:97292400-97294600	Weak transcription	Brain Anterior Caudate	brain
33	chr10:97292400-97295000	Weak transcription	Stomach Mucosa	stomach
34	chr10:97292400-97298600	Enhancers	K562	blood
35	chr10:97292600-97299800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:97292600-97299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:97292600-97300600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:97292800-97294200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr10:97292800-97294800	Weak transcription	Brain Substantia Nigra	brain
40	chr10:97293000-97294000	Weak transcription	Aorta	Aorta
41	chr10:97293000-97294000	Weak transcription	Spleen	Spleen
42	chr10:97293000-97294000	Enhancers	HUVEC	blood vessel
43	chr10:97293000-97297400	Weak transcription	Pancreas	Pancrea
44	chr10:97293000-97298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:97293000-97299600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr10:97293000-97299800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr10:97293000-97300400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr10:97293200-97294000	Enhancers	Fetal Lung	lung
49	chr10:97293200-97297400	Enhancers	Fetal Stomach	stomach
50	chr10:97293200-97302800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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